英文論文
2021
Reyes M, Kagami M, Kawashima S, Pallotta J, Schnabel D, Fukami M, Jüppner
H. A Novel GNAS Duplication Associated with loss-of-methylation restricted
to exon A/B causes pseudohypoparathyroidism type Ib (PHP1B). J Bone Miner
Res. 2021;36(3):546-52.
Fuke T, Nakamura A, Inoue T, Kawashima S, Hara KI, Matsubara K, Sano S,
Yamazawa K, Fukami M, Ogata T, Kagami M. Role of imprinting disorders in
short children born SGA and Silver-Russell syndrome spectrum. J Clin Endocrinol
Metab. 2021;106(3):802-13.
Ushijima K, Ogawa Y, Terao M, Asakura Y, Muroya K, Hayashi M, Ishii T,
Hasegawa T, Sekido R, Fukami M, Takada S, Narumi S. Identification of the
first promoter-specific gain-of-function SOX9 missense variant (p.E50K)
in a patient with 46,XX ovotesticular disorder of sex development. Am J
Med Genet A. 2021;185(4):1067-75.
Mitsui-Sekinaka K, Narumi S, Sekinaka Y, Uematsu K, Yoshida Y, Amano N, Shima H, Hasegawa T, Nonoyama S. Clinical and immunological analyses of ten patients with MIRAGE syndrome. J Clin Immunol. 2021;41(3):709-11.
Haque MN, Ohtsubo M, Nishina S, Nakao S, Yoshida K, Hosono K, Kurata K,
Ohishi K, Fukami M, Sato M, Hotta Y, Azuma N, Minoshima S. Analysis of
IKBKG/NEMO gene in five Japanese cases of incontinentia pigmenti with retinopathy:
fine genomic assay of a rare male case with mosaicism. J Hum Genet. 2021;66(2):205-14.
Hakamata M, Hokari S, Ohshima Y, Kagami M, Saito S, Motoike IN, Abe T,
Aoki N, Hayashi M, Watanabe S, Koya T, Kikuchi T. Chronic hypercapnic respiratory
failure in an adult patient with Silver-Russell syndrome. Intern Med. 2021;60(12):1921-6.
Tamaoka S, Suzuki E, Hattori A, Ogata T, Fukami M, Katoh-Fukui Y. NDNF variants are rare in patients with congenital hypogonadotropic hypogonadism. Hum Genome Var. 2021;8(1):5.
Masunaga Y, Mochizuki M, Kadoya M, Wada Y, Okamoto N, Fukami M, Kato F,
Saitsu H, Ogata T. Primary ovarian insufficiency in a female with phosphomannomutase-2
gene (PMM2) mutations for congenital disorder of glycosylation. Endocr
J. 2021;68(5):605-11.
Nishina S, Hosono K, Ishitani S, Kosaki K, Yokoi T, Yoshida T, Tomita K,
Fukami M, Saitsu H, Ogata T, Ishitani T, Hotta Y, Azuma N. Biallelic CDK9
variants as a cause of a new multiple-malformation syndrome with retinal
dystrophy mimicking the CHARGE syndrome. J Hum Genet. 2021;66(10):1021-7.
Shindo M, Tsumura H, Miyado K, Kang W, Kawano N, Yoshida T, Fukami M, Miyado
M. Similar responsiveness between C57BL/6N and C57BL/6J mouse substrains
to superovulation. MicroPubl Biol. 2021;2021.
Masunaga Y, Kagami M, Kato F, Usui T, Yonemoto T, Mishima K, Fukami M,
Aoto K, Saitsu H, Ogata T. Parthenogenetic mosaicism: generation via second
polar body retention and unmasking of a likely causative PER2 variant for
hypersomnia. Clin Epigenetics. 2021;13(1):73.
Izawa M, Hisamatsu E, Yoshino K, Yoshida M, Sato T, Narumi S, Hasegawa
T, Hamajima T. Complete androgen insensitivity syndrome with accelerated
onset of puberty due to a Sertoli cell tumor. Clin Pediatr Endocrinol.
2021;30(2):99-104.
Hara-Isono K, Matsubara K, Hamada R, Shimada S, Yamaguchi T, Wakui K, Miyazaki
O, Muroya K, Kurosawa K, Fukami M, Ogata T, Kosho T, Kagami M. A patient
with Silver-Russell syndrome with multilocus imprinting disturbance, and
Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome
2. J Hum Genet. 2021;66(11):1121-6.
Kagami M, Hara-Isono K, Matsubara K, Nakabayashi K, Narumi S, Fukami M,
Ohkubo Y, Saitsu H, Takada S, Ogata T. ZNF445: a homozygous truncating
variant in a patient with Temple syndrome and multilocus imprinting disturbance.
Clin Epigenetics. 2021;13(1):119.
Shima H, Tokuhiro E, Okamoto S, Nagamori M, Ogata T, Narumi S, Nakamura
A, Izumi Y, Jinno T, Suzuki E, Fukami M. SOX10 Mutation screening for 117
patients with Kallmann syndrome. J Endocr Soc. 2021;5(7):bvab056.
Ogiwara Y, Miyado M, Suzuki E, Niida S, Ozaki K, Fukami M. Structural and
numerical Y chromosomal variations in elderly men identified through multiplex
ligation-dependent probe amplification. J Hum Genet. 2021;66(12):1181-4.
Akiba K, Aso K, Hasegawa Y, Fukami M. Genome analyses and androgen quantification
for an infant with 5α-reductase type 2 deficiency. J Pediatr Endocrinol
Metab. 2021;34(9):1191-5.
Kawashima S, Hattori A, Suzuki E, Matsubara K, Toki M, Kosaki R, Hasegawa
Y, Nakabayashi K, Fukami M, Kagami M. Methylation status of genes escaping
from X-chromosome inactivation in patients with X-chromosome rearrangements.
Clin Epigenetics. 2021;13(1):134.
Kawashima-Sonoyama Y, Okuno K, Dohmoto T, Tanase-Nakao K, Narumi S, Namba
N. The case of a patient with MIRAGE syndrome with familial dysautonomia-like
symptoms. Hum Genome Var. 2021;8(1):27.
Onuma S, Fukuoka T, Miyoshi Y, Fukui M, Satomura Y, Yasuda K, Kimura T,
Tachibana M, Bessho K, Yamamoto T, Tanaka H, Katsumata N, Fukami M, Hasegawa
T, Ozono K. Two girls with a neonatal screening-negative 21-hydroxylase
deficiency requiring treatment with hydrocortisone for virilization in
late childhood. Clin Pediatr Endocrinol. 2021;30(3):143-8.
Yoshida T, Matsumoto K, Miyado M, Miyashiro Y, Sago H, Horikawa R, Fukami
M. Quantification of androgens and their precursors in full-term human
placenta. Eur J Endocrinol. 2021;185(5):K7-k11.
Akiba K, Katoh-Fukui Y, Yoshida K, Narumi S, Miyado M, Hasegawa Y, Fukami
M. Role of liquid-liquid separation in endocrine and living cells. J Endocr
Soc. 2021;5(10):bvab126.
Igarashi M, Ayabe T, Yamamoto-Hanada K, Matsubara K, Sasaki H, Saito-Abe
M, Sato M, Mise N, Ikegami A, Shimono M, Suga R, Ohga S, Sanefuji M, Oda
M, Mitsubuchi H, Michikawa T, Yamazaki S, Nakayama S, Ohya Y, Fukami M.
Female-dominant estrogen production in healthy children before adrenarche.
Endocr Connect. 2021;10(10):1221-6.
Chen C, Yamanaka Y, Ueda K, Li P, Miyagi T, Harada Y, Tezuka S, Narumi
S, Sugimoto M, Kuroda M, Hayamizu Y, Kanekura K. Phase separation and toxicity
of C9orf72 poly(PR) depends on alternate distribution of arginine. J Cell
Biol. 2021;220(11).
Fukami M, Ogata T. Congenital disorders of estrogen biosynthesis and action.
Best Pract Res Clin Endocrinol Metab. 2021:101580.
Tanase-Nakao K, Kawai M, Wada K, Kagami M, Narumi S. Acquired uniparental
disomy of chromosome 7 in a patient with MIRAGE syndrome that
veiled a pathogenic SAMD9 variant. Clin Pediatr Endocrinol. 2021;30(4):163-9.
Yoshida K, Mushimoto Y, Tanase-Nakao K, Akiba K, Ishii K, Urakami T, Sugihara
S, Kikuchi T, Fukami M, Narumi S. A case report with functional characterization
of a HNF1B mutation (p.Leu168Pro) causing MODY5. Clin Pediatr Endocrinol.
2021;30(4):179-85.
Itonaga T, Akiba K, Hasegawa Y. Therapeutic needs from early childhood in four patients with 21-hydroxylase deficiency harboring the P30L mutation on one allele. Clin Pediatr Endocrinol. 2021;30(4):187-93.
Miyado M, Fukami M, Ogata T. MAMLD1 and differences/disorders of sex development:
An update. Sex Dev. 2021:1-12.
Miyagi T, Yamanaka Y, Harada Y, Narumi S, Hayamizu Y, Kuroda M, Kanekura
K. An improved macromolecular crowding sensor CRONOS for detection of crowding
changes in membrane-less organelles under stressed conditions. Biochem
Biophys Res Commun. 2021;583:29-34.
Eguchi S, Ono R, Sato T, Yada K, Umehara N, Narumi S, Ichihashi Y, Nozaki T, Kanomata N, Hasegawa T, Ozawa M, Hasegawa D. Hereditary paraganglioma presenting with atypical symptoms: Case report. Medicine (Baltimore). 2021;100(46):e27888.
2020
Kinjo K, Yoshida T, Kobori Y, Okada H, Suzuki E, Ogata T, Miyado M, Fukami M. Random X chromosome inactivation in patients with Klinefelter syndrome. Mol Cell Pediatr. 2020;7(1):1.
Saito-Abe M, Yamamoto-Hanada K, Nakayama SF, Hashimoto Y, Natsume O, Fukami M, Hasegawa T, Ohya Y. Reference values for salivary cortisol in healthy young infants by liquid chromatography-tandem mass spectrometry. Pediatr Int. 2020;62(7):785-788.
Matsubara K, Yanagida K, Nagai T, Kagami M, Fukami M. De novo small supernumerary marker chromosomes arising from partial trisomy rescue. Front Genet. 2020;11:132.
Suzuki E, Kobori Y, Katsumi M, Ushijima K, Uchiyama T, Okada H, Miyado M, Fukami M. Copy-number analysis of Y-linked loci in young men with non-obstructive azoospermia: Implications for the rarity of early onset mosaic loss of chromosome Y. Reprod Med Biol. 2020;19(2):178-181.
Hattori A, Fukami M. Established and Novel Mechanisms Leading to de novo Genomic Rearrangements in the Human Germline. Cytogenet Genome Res. 2020;160(4):167-176.
Inoue T, Nakamura A, Iwahashi-Odano M, Tanase-Nakao K, Matsubara K, Nishioka J, Maruo Y, Hasegawa Y, Suzumura H, Sato S, Kobayashi Y, Murakami N, Nakabayashi K, Yamazawa K, Fuke T, Narumi S, Oka A, Ogata T, Fukami M, Kagami M. Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients. Clin Epigenet. 2020;12(1):86.
Yamazawa K, Inoue T, Sakemi Y, Nakashima T, Yamashita H, Khono K, Fujita H, Enomoto K, Nakabayashi K, Hata K, Nakashima M, Matsunaga T, Nakamura A, Matsubara K, Ogata T, Kagami M. Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndrome. J Med Genet. 2020;0:1-6.
Yamoto K, Saitsu H, Fujisawa Y, Kato F, Matsubara K, Fukami M, Kagami M, Ogata T. Coffin-Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing. Clin Case Rep. 2020;8(6):1076-1080.
Kinjo K, Nagasaki K, Muroya K, Suzuki E, Ishiwata K, Nakabayashi K, Hattori A, Nagao K, Nozawa R-S, Obuse C, Miyado K, Ogata T, Fukami M, Miyado M. Rare variant of the epigenetic regulator SMCHD1 in a patient with pituitary hormone deficiency. Sci Rep. 2020; 10(1): 10985.
Amano N, Kitoh H, Narumi S, Nishimura G, Hasegawa T. A novel NPR2 mutation (p.Arg388Gln) in a patient with acromesomelic dysplasia, type Maroteaux. Clin Pediatr Endocrinol. 2020;29(3):99-103.
Hara-Isono K, Matsubara K, Mikami M, Arima T, Ogata T, Fukami M, Kagami M. Assisted reproductive technology represents a possible risk factor for development of epimutation-mediated imprinting disorders for mothers aged ≥ 30 years. Clin Epigenet. 2020;12(1): 111.
Yoshida M, Tanase-Nakao K (co-first author), Shima H, Shirai R, Yoshida K, Osumi T, Deguchi T, Mori M, Arakawa Y, Takagi M, Miyamura T, Sakaguchi K, Toyoda H, Ishida H, Sakata N, Imamura T, Kawahara Y, Morimoto A, Koike T, Yagasaki H, Ito S, Tomizawa D, Kiyokawa N, Narumi S, Kato M. Prevalence of germline GATA2 and SAMD9/9L variants in paediatric haematological disorders with monosomy 7. Br J Haematol. 2020;191(5):835-843.
Fukami M, Fujisawa Y, Ono H, Jinno T, Ogata T. Human spermatogenesis tolerates
massive size reduction of the pseudoautosomal region. Genome Biol Evol.
2020;12(11):1961-1964.
Ishiwa S, Kamei K, Tanase-Nakao K, Shibata S, Matsunami K, Takeuchi I, Sato M, Ishikura K, Narumi S. A girl with MIRAGE syndrome who developed steroid-resistant nephrotic syndrome: a case report. BMC Nephrol. 2020;21(1):340.
Ishii T, Tajima T, Kashimada K, Mukai T, Tanahashi Y, Katsumata N, Kanno J, Hamajima T, Miyako K, Ida S, Hasegawa T. Clinical Features of 57 Patients with Lipoid Congenital Adrenal Hyperplasia: Criteria for Nonclassic Form Revisited. The Journal of clinical endocrinology and metabolism. 2020;105(11):dgaaa557.
Iwahashi-Odano M, Nagasaki K, Fukami M, Nishioka J, Yatsuga S, Asakura Y, Adachi M, Muroya K, Hasegawa T, Narumi S. Congenital hypothyroidism due to truncating PAX8 mutations: a case series and molecular function studies. J Clin Endocrinol Metab. 2020; 105(11):dgaa584.
Nagasaki K, Takase K, Numakura C, Homma K, Hasegawa T, Fukami M. Foetal virilisation caused by overproduction of non-aromatisable 11-oxygenated C19 steroids in maternal adrenal tumour. Hum Reprod. 2020;35(11):2609-2612.
Kawashima S, Yagi H, Hirano Y, Toki M, Izumi K, Dateki S, Namba N, Kamimaki T, Muroya K, Tanaka T, Fukami M, Kagami M; Japanese SHOX study group. Screening for imprinting disorders in 58 patients with clinically diagnosed idiopathic short stature. J Pediatr Endocrinol Metab. 2020;33(10): 1335-1339.
Masunaga Y, Fujisawa Y, Muramatsu M, Ono H, Inoue T, Fukami M, Kagami M, Saitsu H, Ogata T. Insulin resistant diabetes mellitus in SHORT syndrome: case report and literature review. Endocr J. 2021;68(1):111-117.
Uchiyama H, Masunaga Y, Ishikawa T, Fukuoka T, Fukami M, Saitsu H, Ogata T. TSC1 intragenic deletion transmitted from a mosaic father to two siblings with cardiac rhabdomyomas: Identification of two aberrant transcripts. Eur J Med Genet. 2020;63(11):104060.
Yakou F, Suwanai H, Ishikawa T, Itou M, Shikuma J, Miwa T, Sakai H, Kanekura K, Narumi S, Suzuki R, Odawara M. A Novel Homozygous Mutation of Thyroid Peroxidase Gene Abolishes a Disulfide Bond Leading to Congenital Hypothyroidism. Int J Endocrinol. 2020;9132372.
Tatsumi T, Sampei M, Saito K, Honda Y, Okazaki Y, Arata N, Narumi K, Morisaki N, Ishikawa T, Narumi S. Age-Dependent and Seasonal Changes in Menstrual Cycle Length and Body Temperature Based on Big Data. Obstet Gynecol. 2020;136(4):666-674.
Masunaga Y, Inoue T, Yamoto K, Fujisawa Y, Sato Y, Kawashima-Sonoyama Y, Morisada N, Iijima K, Ohata Y, Namba N, Suzumura H, Kuribayashi R, Yamaguchi Y, Yoshihashi H, Fukami M, Saitsu H, Kagami M, Ogata T. IGF2 mutations: report of five cases, review of the literature, and comparison with H19/IGF2:IG-DMR epimutations. J Clin Endocrinol Metab. 2020;105(1):116-125
Akiba K, Narumi S, Nishimura R, Katoh-Fukui Y, Takada S, Hasegawa Y, Fukami M. SOX9 is co-localized with paraspeckle protein NONO in cultured murine sertoli cells and features structural characteristics of intrinsically disordered proteins. Mol Repod Dev. 2020;87(11):1124-1125.
Igarashi M, Masunaga Y, Hasegawa Y, Kinjo K, Miyado M, Saitsu H, Kato-Fukui Y, Horikawa R, Okubo Y, Ogata T, Fukami M. Nonsense-associated altered splicing of MAP3K1 in two siblings with 46,XY disorders of sex development. Sci Rep. 2020;10(1): 17375
Omark J, Masunaga Y, Hannibal M, Shaw B, Fukami M, Kato F, Saitsu H, Kagami M, Ogata T. Kagami-Ogata syndrome in a patient with 46,XX,t(2;14)(q11.2;q32.2)mat disrupting MEG3. J Hum Genet. 2020;66:439–443
Iwahashi-Odano M, Fujisawa Y, Ogata T, Nakashima S, Muramatsu M, Narumi S. Identification and functional characterization of a novel PAX8 mutation (p.His39Pro) causing familial thyroid hypoplasia. Clin Pediatr Endocrinol. 2020;29(4):173-178.
Kawabe Y, Yamaguchi M, Miyagaki S, Ota T, Morimoto H, Hattori A, Fukami M, Mori J. 45,X/46,X,psu idic(Y)(q11.2) in a phenotypically normal male with short stature: a case report. Clin Pediatr Endocrinol. 2020;29(4):189-193.
Uchida N, Ohnishi T, Kojima T, Takahashi T, Makita Y, Fukami M, Shibata H, Hasegawa T, Ishii T. Relapsing 6q24-related transient neonatal diabetes mellitus with insulin resistance: A case report. Clin Pediatr Endocrinol. 2020;29(4):179-182.
Hara-Isono K, Matsubara K, Fuke T, Yamazawa K, Satou K, Murakami N, Saitoh S, Nakabayashi K, Hata K, Ogata T, Fukami M, Kagami M. Genome‑wide methylation analysis in Silver–Russell syndrome, Temple syndrome, and Prader–Willi syndrome. Clin Epigenetics. 2020;12(1):159.
Narumi S, Ohnuma T, Takehara K, Morisaki N, Urayama KY, Hattori T. Evaluating the seasonality of growth in infants using a mobile phone application. NPJ Digit Med. 2020;3:138.
Sugisawa C, Ono M, Kashimada K, Hasegawa T, Narumi S. Inactivation of a Frameshift TSH Receptor Variant Val711Phefs*18 is Due to Acquisition of a Hydrophobic Degron. The Journal of clinical endocrinology and metabolism. 2021;106(1):e265-e72.
Yoshida T, Saito K, Kawamura T, Ishikawa T, Kato T, Matsubara K, Miyasaka N, Miyado M, Fukami M. Circulating steroids and mood disorders in patients with polycystic ovary syndrome. Steroids. 2020;165:108748.
Kamiya J, Kang W, Yoshida K, Takagi R, Kanai S, Hanai M, Nakamura A, Yamada M, Miyamoto Y, Miyado M, Kuroki Y, Hayashi Y, Umezawa A, Kawano N, Miyado K. Suppression of Non-Random Fertilization by MHC Class I Antigens. Int J Mol Sci. 2020;21(22):8731.
Tanase-Nakao K, Olson TS, Narumi S. MIRAGE Syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, 2020;1993-2021.
Suda K, Fukuoka H, Iguchi G, Kanie K, Fujita Y, Odake Y, Matsumoto R, Bando H, Ito H, Takahashi M, Chihara K, Nagai H, Narumi S, Hasegawa T, Ogawa W, Takahashi Y. A case of Luscan-Lumish syndrome: Possible involvement of enhanced GH signaling. J Clin Endocrinol Metab. 2021;106(3):718-723.
Kang W, Yamatoya K, Miyado K, Miyado M, Miyamoto Y. Neuronal expression of Ca(2+) oscillation initiator is linked to rapid neonatal growth in mice. MicroPubl Biol. 2020;10.17912.
Kang W, Harada Y, Yamatoya K, Kawano N, Kanai S, Miyamoto Y, Nakamura A, Miyado M, Hayashi Y, Kuroki Y, Saito H, Iwao Y, Umezawa A, Miyado K. Extra-mitochondrial citrate synthase initiates calcium oscillation and suppresses age-dependent sperm dysfunction. Lab Invest. 2020;100(4):583-595.
2019
Ushijima K, Okuno M, Ayabe T, Kikuchi N, Kawamura T, Urakami T, Yokota I, Amemiya S, Uchiyama T, Kikuchi T, Ogata T, Sugihara S, Fukami M. Low prevalence of maternal microchimerism in peripheral blood of Japanese children with type 1 diabetes. Diabet Med. 2019.
Aiba T, Saito T, Hayashi A, Sato S, Yunokawa H, Fukami M, Hayashi Y, Mizuno K, Sato Y, Kojima Y, Ohsako S. Exploring disease-specific methylated CpGs in human male genital abnormalities by using methylated-site display-amplified fragment length polymorphism (MSD-AFLP). J Reprod Dev. 2019;65(6):491-7.
Saito K, Kuwahara A, Ishikawa T, Morisaki N, Miyado M, Miyado K, Fukami M, Miyasaka N, Ishihara O, Irahara M, Saito H. Reply: Artificial cycle 'per se' or the specific protocol of endometrial preparation as responsible for obstetric complications of frozen cycle? Hum Reprod. 2019;34(12):2554-5.
Sugisawa C, Takamizawa T, Abe K, Hasegawa T, Shiga K, Sugawara H, Ohsugi K, Muroya K, Asakura Y, Adachi M, Daitsu T, Numakura C, Koike A, Tsubaki J, Kitsuda K, Matsuura N, Taniyama M, Ishii S, Satoh T, Yamada M, Narumi S. Genetics of Congenital Isolated TSH Deficiency: Mutation Screening of the Known Causative Genes and a Literature Review. J Clin Endocrinol Metab. 2019;104(12):6229-37.
Yamoto K, Saitsu H, Nishimura G, Kosaki R, Takayama S, Haga N, Tonoki H, Okumura A, Horii E, Okamoto N, Suzumura H, Ikegawa S, Kato F, Fujisawa Y, Nagata E, Takada S, Fukami M, Ogata T. Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2). Eur J Hum Genet. 2019;27(12):1845-57.
Miyado M, Kang W, Kawano N, Miyado K. Microexosomes versus exosomes: Shared components but distinct structures. Regen Ther. 2019;11:31-3.
Yoshizaki K, Hachiya R, Tomobe Y, Kaku U, Akiba K, Shima H, Narumi S, Hasegawa Y. MIRAGE syndrome with recurrent pneumonia probably associated with gastroesophageal reflux and achalasia: A case report. Clin Pediatr Endocrinol. 2019;28(4):147-53.
Kinoshita T, Mikami M, Ayabe T, Matsubara K, Ono H, Ohki K, Fukami M, Katoh-Fukui Y. Frequency of Common Copy-Number Variations at 15q11.2q13 in Sperm of Healthy Men. Cytogenet Genome Res. 2019;159(2):66-73.
Yoshida T, Miyado M, Mikami M, Suzuki E, Kinjo K, Matsubara K, Ogata T, Akutsu H, Kagami M, Fukami M. Aneuploid rescue precedes X-chromosome inactivation and increases the incidence of its skewness by reducing the size of the embryonic progenitor cell pool. Hum Reprod. 2019;34(9):1762-9.
Ushijima K, Narumi S, Ogata T, Yokota I, Sugihara S, Kaname T, Horikawa Y, Matsubara Y, Fukami M, Kawamura T. KLF11 variant in a family clinically diagnosed with early childhood-onset type 1B diabetes. Pediatr Diabetes. 2019;20(6):712-9.
Ogushi K, Muroya K, Shima H, Jinno T, Miyado M, Fukami M. SHOX far-downstream copy-number variations involving cis-regulatory nucleotide variants in two sisters with Leri-Weill dyschondrosteosis. Am J Med Genet A. 2019;179(9):1778-82.
Saito K, Kuwahara A, Ishikawa T, Morisaki N, Miyado M, Miyado K, Fukami M, Miyasaka N, Ishihara O, Irahara M, Saito H. Endometrial preparation methods for frozen-thawed embryo transfer are associated with altered risks of hypertensive disorders of pregnancy, placenta accreta, and gestational diabetes mellitus. Hum Reprod. 2019;34(8):1567-75.
Hamanaka K, Takata A, Uchiyama Y, Miyatake S, Miyake N, Mitsuhashi S, Iwama K, Fujita A, Imagawa E, Alkanaq AN, Koshimizu E, Azuma Y, Nakashima M, Mizuguchi T, Saitsu H, Wada Y, Minami S, Katoh-Fukui Y, Masunaga Y, Fukami M, Hasegawa T, Ogata T, Matsumoto N. MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration. Hum Mol Genet. 2019;28(14):2319-29.
Ishii T, Hori N, Amano N, Aya M, Shibata H, Katsumata N, Hasegawa T. Pubertal and Adult Testicular Functions in Nonclassic Lipoid Congenital Adrenal Hyperplasia: A Case Series and Review. J Endocr Soc. 2019;3(7):1367-74.
Yoshii K, Matsumoto H, Hirasawa K, Sakauchi M, Hara H, Ito S, Osawa M, Fukami M, Horikawa R, Nagata S. Microdeletion in Xq28 with a polymorphic inversion in a patient with FLNA-associated progressive lung disease. Respir Investig. 2019;57(4):395-8.
Igarashi M, Nogawa S, Kawafune K, Hachiya T, Takahashi S, Jia H, Saito K, Kato H. Identification of the 12q24 locus associated with fish intake frequency by genome-wide meta-analysis in Japanese populations. Genes Nutr. 2019;14:21.
Uehara E, Hattori A, Shima H, Ishiguro A, Abe Y, Ogata T, Ogawa E, Fukami M. Unbalanced Y;7 Translocation between Two Low-Similarity Sequences Leading to SRY-Positive 45,X Testicular Disorders of Sex Development. Cytogenet Genome Res. 2019;158(3):115-20.
Umino S, Kitamura M, Katoh-Fukui Y, Fukami M, Usui T, Yatsuga S, Koga Y. A case of combined 21-hydroxylase deficiency and CHARGE syndrome featuring micropenis and cryptorchidism. Mol Genet Genomic Med. 2019;7(6):e730.
Miyado M, Fukami M. Losing maleness: Somatic Y chromosome loss at every stage of a man's life. FASEB Bioadv. 2019;1(6):350-2.
Inoue T, Yagasaki H, Nishioka J, Nakamura A, Matsubara K, Narumi S, Nakabayashi K, Yamazawa K, Fuke T, Oka A, Ogata T, Fukami M, Kagami M. Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology. J Med Genet. 2019;56(6):413-8.
Sasaki K, Shiba K, Nakamura A, Kawano N, Satouh Y, Yamaguchi H, Morikawa M, Shibata D, Yanase R, Jokura K, Nomura M, Miyado M, Takada S, Ueno H, Nonaka S, Baba T, Ikawa M, Kikkawa M, Miyado K, Inaba K. Calaxin is required for cilia-driven determination of vertebrate laterality. Commun Biol. 2019;2:226.
Ogushi K, Muroya K, Shima H, Jinno T, Miyado M, Fukami M. SHOX far-downstream copy-number variations involving cis-regulatory nucleotide variants in two sisters with Leri-Weill dyschondrosteosis. Am J Med Genet A. 2019;179(9):1778-82.
Hattori A, Okamura K, Terada Y, Tanaka R, Katoh-Fukui Y, Matsubara Y, Matsubara K, Kagami M, Horikawa R, Fukami M. Transient multifocal genomic crisis creating chromothriptic and non-chromothriptic rearrangements in prezygotic testicular germ cells. BMC Med Genomics. 2019;12(1):77.
Miyado M, Fukami M, Takada S, Terao M, Nakabayashi K, Hata K, Matsubara Y, Tanaka Y, Sasaki G, Nagasaki K, Shiina M, Ogata K, Masunaga Y, Saitsu H, Ogata T. Germline-Derived Gain-of-Function Variants of Gsα-Coding GNAS Gene Identified in Nephrogenic Syndrome of Inappropriate Antidiuresis. J Am Soc Nephrol. 2019;30(5):877-89.
Tanase-Nakao K, Mizuno K, Hayashi Y, Kojima Y, Hara M, Matsumoto K, Matsubara Y, Igarashi M, Miyado M, Fukami M. Dihydrotestosterone induces minor transcriptional alterations in genital skin fibroblasts of children with and without androgen insensitivity. Endocr J. 2019;66(4):387-93.
Mitani M, Shima H, Sato T, Inoguchi T, Kamimaki T, Fukami M, Hasegawa T. A case report and literature review of monoallelic mutation of GHR. J Pediatr Endocrinol Metab. 2019;32(4):415-9.
Akiba K, Ushijima K, Fukami M, Hasegawa Y. A heterozygous protein-truncating RFX6 variant in a family with childhood-onset, pregnancy-associated and adult-onset diabetes. Diabet Med. 2019.
Iwahashi M, Narumi S. Systematic alanine scanning of PAX8 paired domain reveals functional importance of the N-subdomain. J Mol Endocrinol. 2019;62(3):129-35.
Csillag B, Ilencikova D, Meissl M, Webersinke G, Laccone F, Narumi S, Haas O, Duba HC. Somatic mosaic monosomy 7 and UPD7q in a child with MIRAGE syndrome caused by a novel SAMD9 mutation. Pediatr Blood Cancer. 2019;66(4):e27589.
Kagami M, Yanagisawa A, Ota M, Matsuoka K, Nakamura A, Matsubara K, Nakabayashi K, Takada S, Fukami M, Ogata T. Temple syndrome in a patient with variably methylated CpGs at the primary MEG3/DLK1:IG-DMR and severely hypomethylated CpGs at the secondary MEG3:TSS-DMR. Clin Epigenetics. 2019;11(1):42.
Katoh-Fukui Y, Baba T, Sato T, Otake H, Nagakui-Noguchi Y, Shindo M, Suyama M, Ohkawa Y, Tsumura H, Morohashi KI, Fukami M. Mouse polycomb group gene Cbx2 promotes osteoblastic but suppresses adipogenic differentiation in postnatal long bones. Bone. 2019;120:219-31.
Matsubara K, Itoh M, Shimizu K, Saito S, Enomoto K, Nakabayashi K, Hata K, Kurosawa K, Ogata T, Fukami M, Kagami M. Exploring the unique function of imprinting control centers in the PWS/AS-responsible region: finding from array-based methylation analysis in cases with variously sized microdeletions. Clin Epigenetics. 2019;11(1):36.
Adachi M, Fukami M, Kagami M, Sho N, Yamazaki Y, Tanaka Y, Asakura Y, Hanakawa J, Muroya K. Severe in utero under-virilization in a 46,XY patient with Silver-Russell syndrome with 11p15 loss of methylation. J Pediatr Endocrinol Metab. 2019;32(2):191-6.
Hattori H, Hiura H, Kitamura A, Miyauchi N, Kobayashi N, Takahashi S, Okae H, Kyono K, Kagami M, Ogata T, Arima T. Association of four imprinting disorders and ART. Clin Epigenetics. 2019;11(1):21.
Iwai M, Hamatani T, Nakamura A, Kawano N, Kanai S, Kang W, Yoshii N, Odawara Y, Yamada M, Miyamoto Y, Saito T, Saito H, Miyado M, Umezawa A, Miyado K, Tanaka M. Membrane protein CD9 is repositioned and released to enhance uterine function. Lab Invest. 2019;99(2):200-9.
Saito-Hakoda A, Kanno J, Suzuki D, Kawashima S, Kamimura M, Hirano K, Sakai K, Igarashi M, Fukami M, Fujiwara I. A Follow-Up from Infancy to Puberty in a Japanese Male with SRY-Negative 46,XX Testicular Disorder of Sex Development Carrying a p.Arg92Trp Mutation in NR5A1. Sex Dev. 2019;13(2):60-6.
Natori T, Narumi S, Suzuki T, Sato M, Tsuda K, Kamada A, Yoshida M, Oi K, Suzuki Y, Terayama Y. An Anatomical Variation in the Cervical Carotid Artery of a Young Stroke Patient. Intern Med. 2019;58(1):123-6.
Kimura T, Kagami M, Matsubara K, Yatsuga S, Mukasa R, Yatsuga C, Matsumoto T, Koga Y. Temple syndrome diagnosed in an adult patient with clinical autism spectrum disorder. Clin Case Rep. 2019;7(1):15-8.
Fukuhara Y, Cho SY, Miyazaki O, Hattori A, Seo JH, Mashima R, Kosuga M, Fukami M, Jin DK, Okuyama T, Nishimura G. The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported. Clin Dysmorphol. 2019;28(1):26-9.
Suzuki E, Shima H, Kagami M, Soneda S, Tanaka T, Yatsuga S, Nishioka J, Oto Y, Kamiya T, Naiki Y, Ogata T, Fujisawa Y, Nakamura A, Kawashima S, Morikawa S, Horikawa R, Sano S, Fukami M. (Epi)genetic defects of MKRN3 are rare in Asian patients with central precocious puberty. Hum Genome Var. 2019;6:7.
2018
Naiki Y, Fukami M. Letters to the Editor: "Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline". J Clin Endocrinol Metab. 2018.
Iwai M, Harada Y, Miyabayashi R, Kang W, Nakamura A, Kawano N, Miyamoto Y, Yamada M, Hamatani T, Miyado M, Yoshida K, Saito H, Tanaka M, Umezawa A, Miyado K. Chemotactic behavior of egg mitochondria in response to sperm fusion in mice. Heliyon. 2018;4(11):e00944.
Shimizu D, Iwashima S, Sato K, Hayano S, Fukami M, Saitsu H, Ogata T. GATA4 variant identified by whole-exome sequencing in a Japanese family with atrial septal defect: Implications for male sex development. Clin Case Rep. 2018;6(11):2229-33.
Shima H, Hayashi M, Tachibana T, Oshiro M, Amano N, Ishii T, Haruna H, Igarashi M, Kon M, Fukuzawa R, Tanaka Y, Fukami M, Hasegawa T, Narumi S. MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency. PLoS One. 2018;13(11):e0206184.
Narumi S, Matsubara K, Ishii T, Hasegawa T. Methylome analysis of thyroid ectopy shows no disease-specific DNA methylation signature. Clin Pediatr Endocrinol. 2018;27(4):235-8.
Katsumata N. Standardization of Growth Hormone and Insulin-like Growth Factor-I Measurement. Pediatr Endocrinol Rev. 2018;16(Suppl 1):28-32.
Fukami M. Long-term healthcare of people with disorders of sex development: Predictors of pubertal outcomes of partial androgen insensitivity syndrome. EBioMedicine. 2018;37:29-30.
Nagata Y, Narumi S, Guan Y, Przychodzen BP, Hirsch CM, Makishima H, Shima H, Aly M, Pastor V, Kuzmanovic T, Radivoyevitch T, Adema V, Awada H, Yoshida K, Li S, Sole F, Hanna R, Jha BK, LaFramboise T, Ogawa S, Sekeres MA, Wlodarski MW, Cammenga J, Maciejewski JP. Germline loss-of-function SAMD9 and SAMD9L alterations in adult myelodysplastic syndromes. Blood. 2018;132(21):2309-13.
Takagi M, Shimomura S, Fukuzawa R, Narumi S, Nishimura G, Hasegawa T. A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination. J Hum Genet. 2018;63(12):1277-81.
Nakamura A, Kawano N, Motomura K, Kuroda A, Sekiguchi K, Miyado M, Kang W, Miyamoto Y, Hanai M, Iwai M, Yamada M, Hamatani T, Saito T, Saito H, Tanaka M, Umezawa A, Miyado K. Degradation of phosphate polymer polyP enhances lactic fermentation in mice. Genes Cells. 2018;23(10):904-14.
Kang W, Ishida E, Yamatoya K, Nakamura A, Miyado M, Miyamoto Y, Iwai M, Tatsumi K, Saito T, Saito K, Kawano N, Hamatani T, Umezawa A, Miyado K, Saito H. Autophagy-disrupted LC3 abundance leads to death of supporting cells of human oocytes. Biochem Biophys Rep. 2018;15:107-14.
Fukuhara Y, Cho SY, Miyazaki O, Hattori A, Seo JH, Mashima R, Kosuga M, Fukami M, Jin DK, Okuyama T, Nishimura G. The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported. Clin Dysmorphol. 2019;28(1):26-9.
Tanase-Nakao K, Miyata I, Terauchi A, Saito M, Wada S, Hasegawa T, Narumi S. Fetal Goitrous Hypothyroidism and Polyhydramnios in a Patient with Compound Heterozygous DUOXA2 Mutations. Horm Res Paediatr. 2018;90(2):132-7.
Sugisawa C, Abe K, Sunaga Y, Taniyama M, Hasegawa T, Narumi S. Identification of compound heterozygous TSHR mutations (R109Q and R450H) in a patient with nonclassic TSH resistance and functional characterization of the mutant receptors. Clin Pediatr Endocrinol. 2018;27(3):123-30.
Matsubara K, Kagami M, Fukami M. Uniparental disomy as a cause of pediatric endocrine disorders. Clin Pediatr Endocrinol. 2018;27(3):113-21.
Yoshida T, Matsuzaki T, Miyado M, Saito K, Iwasa T, Matsubara Y, Ogata T, Irahara M, Fukami M. 11-oxygenated C19 steroids as circulating androgens in women with polycystic ovary syndrome. Endocr J. 2018;65(10):979-90.
Hernandez Mora JR, Tayama C, Sanchez-Delgado M, Monteagudo-Sanchez A, Hata K, Ogata T, Medrano J, Poo-Llanillo ME, Simon C, Moran S, Esteller M, Tenorio J, Lapunzina P, Kagami M, Monk D, Nakabayashi K. Characterization of parent-of-origin methylation using the Illumina Infinium MethylationEPIC array platform. Epigenomics. 2018;10(7):941-54.
Kawashima S, Nakamura A, Inoue T, Matsubara K, Horikawa R, Wakui K, Takano K, Fukushima Y, Tatematsu T, Mizuno S, Tsubaki J, Kure S, Matsubara Y, Ogata T, Fukami M, Kagami M. Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients. J Clin Endocrinol Metab. 2018;103(6):2083-8.
Hosono K, Nishina S, Yokoi T, Katagiri S, Saitsu H, Kurata K, Miyamichi D, Hikoya A, Mizobuchi K, Nakano T, Minoshima S, Fukami M, Kondo H, Sato M, Hayashi T, Azuma N, Hotta Y. Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing. Sci Rep. 2018;8(1):8279.
Igarashi M, Mizuno K, Kon M, Narumi S, Kojima Y, Hayashi Y, Ogata T, Fukami M. GATA4 mutations are uncommon in patients with 46,XY disorders of sex development without heart anomaly. Asian J Androl. 2018;20(6):629-31.
Montalbano A, Juergensen L, Fukami M, Thiel CT, Hauer NH, Roeth R, Weiss B, Naiki Y, Ogata T, Hassel D, Rappold GA. Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature. Eur J Hum Genet. 2018;26(8):1113-20.
Miyado M, Muroya K, Katsumi M, Saito K, Kon M, Fukami M. Somatically Acquired Isodicentric Y and Mosaic Loss of Chromosome Y in a Boy with Hypospadias. Cytogenet Genome Res. 2018;154(3):122-5.
Nakamura S, Kobori Y, Ueda Y, Tanaka Y, Ishikawa H, Yoshida A, Katsumi M, Saito K, Nakamura A, Ogata T, Okada H, Nakai H, Miyado M, Fukami M. STX2 is a causative gene for nonobstructive azoospermia. Hum Mutat. 2018;39(6):830-3.
Fukami M, Kurahashi H. Clinical Consequences of Chromothripsis and Other Catastrophic Cellular Events. Methods Mol Biol. 2018;1769:21-33.
Katoh-Fukui Y, Yatsuga S, Shima H, Hattori A, Nakamura A, Okamura K, Yanagi K, Iso M, Kaname T, Matsubara Y, Fukami M. An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome. Hum Genome Var. 2018;5:18006.
Nakamura A, Muroya K, Ogata-Kawata H, Nakabayashi K, Matsubara K, Ogata T, Kurosawa K, Fukami M, Kagami M. A case of paternal uniparental isodisomy for chromosome 7 associated with overgrowth. J Med Genet. 2018;55(8):567-70.
Sano S, Nakamura A, Matsubara K, Nagasaki K, Fukami M, Kagami M, Ogata T. (Epi)genotype-Phenotype Analysis in 69 Japanese Patients With Pseudohypoparathyroidism Type I. J Endocr Soc. 2018;2(1):9-23.
Haug MG, Brendehaug A, Houge G, Kagami M, Ogata T. Mosaic upd(14)pat in a patient with mild features of Kagami-Ogata syndrome. Clin Case Rep. 2018;6(1):91-5.
Narumi S. Rare monogenic causes of primary adrenal insufficiency. Curr Opin Endocrinol Diabetes Obes. 2018;25(3):172-7.
Saito K, Fukami M, Miyado M, Ono I, Sumori K. Case of heterotopic cervical pregnancy and total placenta accreta after artificial cycle frozen-thawed embryo transfer. Reprod Med Biol. 2018;17(1):89-92.
Sarthy J, Zha J, Babushok D, Shenoy A, Fan JM, Wertheim G, Himebauch A, Munchel A, Taraseviciute A, Yang S, Shima H, Narumi S, Meshinchi S, Olson TS. Poor outcome with hematopoietic stem cell transplantation for bone marrow failure and MDS with severe MIRAGE syndrome phenotype. Blood Adv. 2018;2(2):120-5.
Yoshida K, Kang W, Nakamura A, Kawano N, Hanai M, Miyado M, Miyamoto Y, Iwai M, Hamatani T, Saito H, Miyado K, Umezawa A. Ubiquitin-activating enzyme E1 inhibitor PYR-41 retards sperm enlargement after fusion to the egg. Reprod Toxicol. 2018;76:71-7.
Horikawa Y, Enya M, Komagata M, Hashimoto KI, Kagami M, Fukami M, Takeda J. Effectiveness of Sodium-Glucose Cotransporter-2 Inhibitor as an Add-on Drug to GLP-1 Receptor Agonists for Glycemic Control of a Patient with Prader-Willi Syndrome: A Case Report. Diabetes Ther. 2018;9(1):421-6.
Ushijima K, Yatsuga S, Matsumoto T, Nakamura A, Fukami M, Kagami M. A severely short-statured girl with 47,XX, + 14/46,XX,upd(14)mat, mosaicism. J Hum Genet. 2018;63(3):377-81.
Jeffries L, Shima H, Ji W, Panisello-Manterola D, McGrath J, Bird LM, Konstantino M, Narumi S, Lakhani S. A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history. Am J Med Genet A. 2018;176(2):415-20.
Shima H, Koehler K, Nomura Y, Sugimoto K, Satoh A, Ogata T, Fukami M, Juhlen R, Schuelke M, Mohnike K, Huebner A, Narumi S. Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations. J Med Genet. 2018;55(2):81-5.
Yamoto K, Okamoto S, Fujisawa Y, Fukami M, Saitsu H, Ogata T. FGFR1 disruption identified by whole genome sequencing in a male with a complex chromosomal rearrangement and hypogonadotropic hypogonadism. Am J Med Genet A. 2018;176(1):139-43.
Yoshii K, Naiki Y, Terada Y, Fukami M, Horikawa R. Mismatch between fetal sexing and birth phenotype: a case of complete androgen insensitivity syndrome. Endocr J. 2018;65(2):221-5.
Abe K, Narumi S, Suwanai AS, Adachi M, Muroya K, Asakura Y, Nagasaki K, Abe T, Hasegawa T. Association between monoallelic TSHR mutations and congenital hypothyroidism: a statistical approach. Eur J Endocrinol. 2018;178(2):137-44.
Ohsako S, Aiba T, Miyado M, Fukami M, Ogata T, Hayashi Y, Mizuno K, Kojima Y. Expression of Xenobiotic Biomarkers CYP1 Family in Preputial Tissue of Patients with Hypospadias and Phimosis and Its Association with DNA Methylation Level of SRD5A2 Minimal Promoter. Arch Environ Contam Toxicol. 2018;74(2):240-7.
Fukami M, Suzuki E, Igarashi M, Miyado M, Ogata T. Gain-of-function mutations in G-protein-coupled receptor genes associated with human endocrine disorders. Clin Endocrinol (Oxf). 2018;88(3):351-9.
Yamazaki F, Shima H, Osumi T, Narumi S, Kuroda T, Shimada H. Nodular Lymphocyte-predominant Hodgkin Lymphoma in a 15-Year-Old Boy With Li-Fraumeni Syndrome Having a Germline TP53 D49H Mutation. J Pediatr Hematol Oncol. 2018;40(3):e195-e7.
Wilson DB, Bessler M, Ferkol TW, Shenoy S, Amano N, Ishii T, Shima H, Narumi S. Comment on: Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features of dyskeratosis congenita and IMAGe association. Pediatr Blood Cancer. 2018;65(1).
Ayabe T, Yamamoto-Hanada K, Mezawa H, Konishi M, Ishitsuka K, Saito M, Fukami M, Michikawa T, Yamazaki S, Senju A, Kusuhara K, Kawamoto T, Sanefuji M, Kato K, Oda M, Mitsubuchi H, Katoh T, Monden Y, Mise N, Kayama F, Saito H, Ohya Y. Regional differences in infant 25-Hydroxyvitamin D: Pilot study of the Japan Environment and Children's Study. Pediatr Int. 2018;60(1):30-4.
Ushijima K, Fukami M, Ayabe T, Narumi S, Okuno M, Nakamura A, Takahashi T, Ihara K, Ohkubo K, Tachikawa E, Nakayama S, Arai J, Kikuchi N, Kikuchi T, Kawamura T, Urakami T, Hata K, Nakabayashi K, Matsubara Y, Amemiya S, Ogata T, Yokota I, Sugihara S, Japanese Study Group of Insulin Therapy for C, Adolescent D. Comprehensive screening for monogenic diabetes in 89 Japanese children with insulin-requiring antibody-negative type 1 diabetes. Pediatr Diabetes. 2018;19(2):243-50.
Higuchi S, Takagi M, Takeda R, Yoshihashi H, Narumi S, Hasegawa T. An association with hypopituitarism and 9q subtelomere deletion syndrome. Clin Case Rep. 2018;6(12):2371-5.
2017
Kagami M, Matsubara K, Nakabayashi K, Nakamura A, Sano S, Okamura K, Hata
K, Fukami M, Ogata T. Genome-wide multilocus imprinting disturbance analysis
in Temple syndrome and Kagami-Ogata syndrome. Genet Med 19(4): 476-482,
2017
Igarashi M, Takasawa K, Hakoda A, Kanno J, Takada S, Miyado M, Baba T, Morohashi KI, Tajima T, Hata K, Nakabayashi K, Matsubara Y, Sekido R, Ogata T, Kashimada K, Fukami M. Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues. Hum Mutat 38(1): 39–34, 2017
Nagai K, Shima H, Kamimura M, Kanno J, Suzuki E, Ishiguro A, Narumi S, Kure S, Fujiwara I, Fukami M. Xp22.31 microdeletion due to microhomology-mediated break-induced replication in a boy with contiguous gene deletion syndrome. Cytogenet Genome Res 151(1): 1-4, 2017
Nakamura S, Miyado M, Saito K, Katsumi M, Nakamura A, Kobori Y, Tanaka Y, Ishikawa H, Yoshida A, Okada H, Hata K, Nakabayashi K, Okamura K, Ogata H, Matsubara Y, Ogata T, Nakai H, Fukami M. Next-generation sequencing for patients with non-obstructive azoospermia: implications for significant roles of monogenic/oligogenic mutations. Andrology 5(4): 824-831, 2017
Miyado M, Miyado K, Nakamura A, Fukami M, Yamada G, Oda SI. Expression patterns of Fgf8 and Shh in the developing external genitalia of Suncus murinus. Reproduction. 153(2): 187-195, 2017
Kagami M, Nagasaki K, Kosaki R, Horikawa R, Naiki Y, Saitoh S, Tajima T, Yorifuji T, Numakura C, Mizuno S, Nakamura A, Matsubara K, Fukami M, Ogata T. Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients. Genet Med. 19(12):1356-1366, 2017
Ihara K, Fukano C, Ayabe T, Fukami M, Ogata T, Kawamura T, Urakami T, Kikuchi N, Yokota I, Takemoto K, Mukai T, Nishii A, Kikuchi T, Mori T, Shimura N, Sasaki G, Kizu R, Takubo N, Soneda S, Fujisawa T, Takaya R, Kizaki Z, Kanzaki S, Hanaki K, Matsuura N, Kasahara Y, Kosaka K, Takahashi T, Minamitani K, Matsuo S, Mochizuki H, Kobayashi K, Koike A, Horikawa R, Teno S, Tsubouchi K, Mochizuki T, Igarashi Y, Amemiya S, Sugihara S; Japanese Study Group of Insulin Therapy for Childhood Adolescent Diabetes (JSGIT). FUT2 Nonsecretor Status Links Type 1 Diabetes Susceptibility in Japanese children. Diabet Med. 34(4): 586-589, 2017
Okuno M, Kasahara Y, Onodera M, Takubo N, Okajima M, Suga S, Watanabe N, Suzuki J, Ayabe T, Urakami T, Kawamura T, Kikuchi N, Yokota I, Kikuchi T, Amemiya S, Nakabayashi K, Hayashi K, Hata K, Matsubara Y, Ogata T, Fukami M, Sugihara S. Nucleotide substitutions in CD101, the human homolog of a diabetes susceptibility gene in non-obese diabetic mouse, in patients with type 1 diabetes. J Diabetes Investig 8(3): 286-294, 2017
Ohishi A, Nishimura G, Kato F, Ono H, Maruwaka K, Ago M, Suzumura H, Hirose E, Uchida Y, Fukami M, Ogata T. Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses. Am J Med Genet A. 173(1): 157–162, 2017
Hattori A, Zukeran H, Igarashi M, Toguchi S, Toubaru Y, Inoue T, Katoh-Fukui Y, Fukami M. A novel C-terminally truncating NR5A1 mutation in dizygotic twins. Hum Genome Variat. 4:17008, 2017
Ohtaka K, Fujisawa Y, Takada F, Hasegawa Y, Miyoshi T, Hasegawa T, Miyoshi H, Kameda H, Seo MK, Fukami M, Ogata T. FGFR1 Analyses in Four Patients with Hypogonadotropic Hypogonadism with Split-Hand/Foot Malformation: Implications for the Promoter Region. Hum Mutat. 38(5): 503-506, 2017
Saito K, Miyado K, Yamatoya K, Kuwahara A, Inoue E, Miyado M, Fukami M, Ishikawa T, Saito T, Kubota T, Saito H. Increased incidence of post-term delivery and Cesarean section after frozen-thawed embryo transfer during a hormone replacement cycle. J Assist Reprod Genet. 34(4):465-470. 2017
Fukami M, Suzuki E, Izumi Y, Torii T, Narumi S, Igarashi M, Miyado M , Katsumi M, Fujisawa Y, Nakabayashi K, Hata K, Umezawa A, Matsubara Y, Yamauchi J, Ogata T Paradoxical gain-of-function mutant of the G-protein coupled receptor PROKR2 promotes early puberty. J Cell Mol Med. 21(10): 2623-2626, 2017
Nishioka J, Shima H, Fukami M, Yatsuga S, Matsumoto T, Ushijima K, Kitamura M, Koga Y. The first Japanese case of central precocious puberty with a novel MKRN3 mutation. Hum Genome Var. 4:17017, 2017
Shima H, Ishii A, Wada Y, Kizawa J, Yokoi T, Azuma N, Matsubara Y, Suzuki E, Nakamura A, Narumi S, Fukami M. SOX2 nonsense mutation in a patient clinically diagnosed with non-syndromic hypogonadotropic hypogonadism. Endocr J. 30;64(8):813-817, 2017
Inoue T, Nakamura A, Fuke T, Yamazawa K, Sano S, Matsubara K, Mizuno S, Matsukura Y, Harashima C, Hasegawa T, Nakajima H, Tsumura K, Kizaki Z, Oka A, Ogata T, Fukami M, Kagami M. Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects. Clin Epigenetics. 15;9: 52. 2017
Yamoto K, Saitsu H, Nakagawa N, Nakajima H, Hasegawa T, Fujisawa Y, Kagami M, Fukami M, Ogata T. De Novo IGF2 mutation on the paternal allele in a patient with silver-Russell syndrome and ectrodactyly. Hum Mutat. 38(8):953-958, 2017
Dateki S, Kagami M, Matsubara K, Izumi K, Watanabe S, Nakatomi A, Kondoh T, Fukami M, Moriuchi H. Maternally-derived 15q11.2-q13.1 Duplication and H19-DMR Hypomethylation in a Patient with Silver-Russell Syndrome. J Hum Genet. 62(10):919-922, 2017
Miyado M, Yoshida K, Miyado K, Katsumi M, Saito K, Nakamura S, Ogata T, Fukami M. Knockout of Murine Mamld1 Impairs Testicular Growth and Daily Sperm Production but Permits Normal Postnatal Androgen Production and Fertility. Int J Mol Sci. 18(6), 2017
Hattori A, Katoh-Fukui Y, Nakamura A, Matsubara K, Kamimaki T, Tanaka H, Dateki S, Adachi M, Muroya K, Yoshida S, Ida S, Mitani M, Nagasaki K, Ogata T, Suzuki E, Hata K, Nakabayashi, K, Matsubara Y, Narumi S, Tanaka T, Fukami M. Next Generation Sequencing-Based Mutation Screening of 86 Patients with Idiopathic Short Stature. Endocr J 64(10):947-954, 2017
Inoue T, Nakamura A, Matsubara K, Nyuzuki H, Nagasaki K, Oka A, Fukami M, Kagami M Continuous hypomethylation of the KCNQ1OT1:TSS-DMR in monochorionic twins discordant for Beckwith-Wiedemann syndrome. Am J Med Genet A. 173(10): 2847-2850. 2017
Suzuki E, Bo R, Sue K, Awano H, Ogata T, Narumi S, Kagami M, Sano S, Fukami M. De Novo 50-bp GNAS (Gs-alpha) Intragenic Duplication in a Patient with Pseudohypoparathyroidism Type 1a. Cytogenet Genome Res. 153(3):125-130, 2017
Saito K, Miyado M, Fukami M, Ono I, Sumori K: Case of heterotopic cervical pregnancy and total placenta accreta after artificial cycle frozen-thawed embryo transfer. Reprod Med Biol 17(1):89-92, 2017
Narumi S, Fox LA, Fukudome K, Sakaguchi Z, Sugisawa C, Abe K, Kameyama
K, Hasegawa T: Mild thyroid peroxidase deficiency caused by TPO mutations
with residual activity: Correlation between clinical phenotypes and enzymatic
activity. Endocr J. 2017; 64:1087-1097.
Takada Y; Sakai, Y Matsushita Y; Ohkubo K, Koga Y, Akamine S, Torio M,
Ishizaki Y, Sanefuji M, Torisu H, Chad A Shaw, Kagami M, Hara T, Ohga S: Sustained
endocrine profiles of a girl with WAGR syndrome. BMC Med Genet. 2017;18:117
Abe K, Narumi S, Suwanai AS, Adachi M, Muroya K, Asakura Y, Nagasaki K,
Abe T, Hasegawa T: Association between monoallelic TSHR mutations and congenital
hypothyroidism: a Statistical approach. Eur J Endocrinol. 2018;178:137-144.
Takasawa K, Gau M, Sutani A, Igarashi M, Ono M, Takemoto A, Takada S, Yamataka A, Ogata T, Morio T, Fukami M, Kashimada K. Phenotypic variation in 46,XX disorders of sex development due to the NR5A1 p.R92W variant: a sibling case report and literature review. Sex Dev 11(5-6):284-288, 2017
Takagi M, Dobashi K, Nagahara K, Kato M, Nishimura G, Fukuzawa R, Narumi
S, Hasegawa T: A novel de novo germline mutation Glu40Lys in AKT3 causes
megalencephaly with growth hormone deficiency. Am J Med Genet A. 2017;173:1071-1076.
Yamatoya K, Saito K, Saito T, Kang W, Nakamura A, Miyado M, Kawano N, Miyamoto
Y, Umezawa A, Miyado K, Saito H: Birth weights and Down syndrome in neonates
delivered after frozenthawed embryo transfer: The 2007-2012 national registry
data in Japan. Reprod Med Biol. 2017;16:228-234
Katsumata N: Standardization of growth hormone and insulin-like growth factor-I measurements. Pediatr Endocrinol Rev 2017;14(Suppl 1):209-215
Itonaga T, Goto H, Toujigamori M, Ohno Y, Korematsu S, Izumi T, Narumi
S, Hasegawa T, Ihara K: Three-Quarters Adrenalectomy for Infantile-Onset
Cushing Syndrome due to Bilateral Adrenal Hyperplasia in McCune-Albright
Syndrome. Horm Res Paediatr. 2017;88:285-290.
Takagi M, Yagi H, Fukuzawa R, Narumi S, Hasegawa T: Syndromic disorder of sex development due to a novel hemizygous mutation in the carboxyl-terminal domain of ATRX. Hum Genome Var 2017;4:17012
Yamamoto-Hanada K, Limin Yang, Ishitsuka K, Ayabe T, Mezawa H, Konishi
M, Shoda T, Matsumoto K, Saito H, Ohya Y: Allergic Profiles of Mothers
and Fathers in the Japan Environment and Children's Study (JECS): a nationwide
birth cohort study. World Allergy Organ J. 2017;10:24.
Amano N, Narumi S, Hayashi M, Takagi M, Imai K, Nakamura T, Hachiya R, Sasaki G, Homma K, Ishii T, Hasegawa T: Genetic defects in pediatric-onset adrenal insufficiency in Japan. Eur J Endocrinol 2017;177:187-194
Sugisawa C, Higuchi S, Takagi M, Hasegawa Y, Taniyama M, Abe K, Hasegawa
T, Narumi S: Homozygous DUOXA2 mutation (p.Tyr138) in a girl with congenital
hypothyroidism and her apparently unaffected brother: Case report and review
of the literature. Endocr J. 2017;64:807-812.
Takeda R, Takagi M, Shinohara H, Futagawa H, Narumi S, Hasegawa T, Nishimura
G, Yoshihashi H: Novel compound heterozygous mutations identified by whole
exome sequencing in a Japanese patient with geroderma osteodysplastica. Eur
J Med Genet. 2017;60:635-638.
Yamazaki F, Shima H, Osumi T, Narumi S, Kuroda T, Shimada H: Nodular Lymphocyte-predominant
Hodgkin Lymphoma in a 15-Year-Old Boy With Li-Fraumeni Syndrome Having
a Germline TP53 D49H Mutation.J Pediatr Hematol Oncol. 2018;40:e195-e197.
Fukami M, Shima H, Suzuki E, Ogata T, Matsubara K, Kamimaki T, Catastrophic Cellular Events Leading to Complex Chromosomal Rearrangements in the Germline. Clin Genet 91(5): 653-660, 2017
Fukami M, Miyado M. Next generation sequencing and array-based comparative genomic hybridization for molecular diagnosis of pediatric endocrine disorders. Ann Pediatr Endocrinol Metab. 22(2): 90-94. 2017
Nagai K, Shima H, Kamimura M, Kanno J, Suzuki E, Ishiguro A, Narumi S,
Kure S, Fujiwara I, Fukami M. Xp22.31 microdeletion due to microhomology–mediated
break–induced replication in a boy with contiguous gene deletion syndrome.
Cytogenet Genome Res. 2017;151:1-4.
2016
Kon M, Saito K, Mitsui T, Miyado M, Igarashi M, Moriya K, Nonomura K, Shinohara
N, Ogata T, Fukami M. Copy–number variations of the azoospermia factor
region or SRY are not associated with the risk of hypospadias. Sexual Development.
2016; 10(1): 12–15.
Okuno M、Yorifuji T, Kagami M, Ayabe T, Urakami T, Kawamura T, Kikuchi N, Yokota I, Kikuchi T, Amemiya S, Suzuki J, Ogata T, Sugihara S, Fukami M. Chromosome 6q24 methylation defects are uncommon in childhood–onset non–autoimmune diabetes mellitus patients born appropriate– or large–for–gestational age. Clinical Pediatric Endocrinology. 2016; 25(3): 99–102.
Saito K, Matsuzaki T, Iwasa T, Miyado M, Saito H, Hasegawa T, Homma K, Inoue E, Miyashiro Y, Kubota T, Irahara M, Ogata T, Fukami M. Steroidogenic pathways involved in androgen biosynthesis in eumenorrheic women and patients with polycystic ovary syndrome. Journal of Steroid Biochemistry and Molecular Biology. 2016; 158: 31–37.
Shima H, Tanaka T, Kamimaki T, Dateki S, Muroya K, Horikawa R, Kanno J, Adachi M, Naiki Y, Tanaka H, Mabe H, Yagasaki H, Kure S, Matsubara Y, Tajima T, Kashimada K, Ishii T, Asakura Y, Fujiwara I, Soneda S, Nagasaki K, Hamajima T, Kanzaki S, Jinno T, Ogata T, Fukami M. Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri–Weill dyschondrosteosis. Journal of Human Genetics. 2016; 61(7): 585–591.
Saito K, Matsuzaki T, Iwasa T, Miyado M, Saito H, Kubota T, Irahara M, Ogata T, Fukami M. Blood allopregnanolone levels in women with polycystic ovary syndrome. Clinical Endocrinology. 2016; 85(1): 151–152.
Nakamura A, Hamaguchi E, Horikawa R, Nishimura Y, Matsubara K, Sano S, Nagasaki K, Matsubara Y, Umezawa A, Tajima T, Ogata T, Kagami M, Okamura K, Fukami M. Complex genomic rearrangement within the GNAS region associated with familial pseudohypoparathyroidism type 1b. The Journal of Clinical Endocrinology and Metabolism. 2016; 101(7): 2623–2627.
Ayabe T, Fukami M, Ogata T, Kawamura T, Urakami T, Kikuchi N, Yokota I, Ihara K, Takemoto K, Mukai T, Nishii A, Kikuchi T, Mori T, Shimura N, Sasaki G, Kizu R, Takubo N, Soneda S, Fujisawa T, Takaya R, Kizaki Z, Kanzaki S, Hanaki K, Matsuura N, Kasahara Y, Kosaka K, Takahashi T, Minamitani K, Matsuo S, Mochizuki H, Kobayashi K, Koike A, Horikawa R, Teno S, Tsubouchi K, Mochizuki T, Igarashi Y, Amemiya S, Sugihara S. Variants associated with autoimmune Type 1 diabetes in Japanese children: implications for age–specific effects of cis–regulatory haplotypes at 17q12–q21. Diabetic Medicine. 2016; 33(12): 1717–1722.
Shima H, Yatsuga S, Nakamura A, Sano S, Sasaki T, Katsumata N, Suzuki E, Hata K, Nakabayashi K, Momozawa Y, Kubo M, Okamura K, Kure S, Matsubara Y, Ogata T, Narumi S, Fukami M. NR0B1 frameshift mutation in a boy clinically diagnosed with idiopathic central precocious puberty. Sexual Development. 2016; 10(4): 205–209.
Suzuki E, Shima H, Toki M, Hanew K, Matsubara K, Kurahashi H, Narumi S, Ogata T, Kamimaki T, Fukami M. Complex X–chromosomal rearrangements in two women with ovarian dysfunction: Implications for chromothripsis/chromoanasynthesis–dependent and –independent origins of complex genomic alterations. Cytogenet Genome Res. 2016;150:86-92.
Miyado M, Inui M, Igarashi M, Katoh–Fukui Y, Takasawa K, Hakoda A, Kanno J, Kashimada K, Miyado K, Tamano M, Ogata T, Takada S, Fukami M. The p.R92W variant of NR5A1/Nr5a1 induces testicular development of 46,XX gonads in humans, but not in mice: phenotypic comparison of human patients and mutation–induced mice. Biology of Sex Differences. 2016; 7: 56.
Miyado M, Miyado K, Nakamura A, Fukami M, Yamada G, Oda SI. Expression patterns of Fgf8 and Shh in the developing external genitalia of Suncus murinus. Reproduction. 2016; 153(2): 187–195.
Okuno M, Kasahara Y, Onodera M, Takubo N, Okajima M, Suga S, Watanabe N,
Suzuki J, Ayabe T, Urakami T, Kawamura T, Kikuchi N, Yokota I, Kikuchi
T, Amemiya S, Nakabayashi K, Hayashi K, Hata K, Matsubara Y, Ogata T, Fukami
M, Sugihara S. Mutations in CD101, the human homolog of diabetes susceptibility
gene in nonobese diabetic mouse, in patients with type 1 diabetes. J Diabetes
Investig. 2017;8:286-294.
Naiki Y, Miyado M, Horikawa R, Katsumata N, Onodera M, Pang S, Ogata T, Fukami M. Extra–adrenal induction of Cyp21a1 ameliorates systemic steroid metabolism in a mouse model of congenital adrenal hyperplasia. Endocrine Journal. 2016; 63(10): 897–904.
Emma L. Wakeling, Frederic Brioude, Oluwakemi Lokulo–Sodipe, Susan M. O’Connell, Jennifer Salem, Jet Bliek, Ana P. M. Canton, Krystyna H. Chrzanowska11, Justin H. Davies, Renuka P. Dias, Beatrice Dubern, Miriam Elbracht, Eloise Giabicani, Adda Grimberg, Karen Gronskov, Anita C. S. Hokken-Koelega, Alexander A. Jorge, Kagami M, Agnes Linglart, Mohamad Maghnie, Klaus Mohnike, David Monk, Gudrun E. Moore, Philip G. Murray, Ogata T, Isabelle Oliver Petit, Silvia Russo, Edith Said, Meropi Toumba, Zeynep Tumer, Gerhard Binder, Thomas Eggermann, Madeleine D. Harbison, I. Karen Temple, Deborah J. G. Mackay, Irene Netchine. Diagnosis and management of Silver–Russell syndrome: first international consensus statement. Nature Reviews Endocrinology. 2016; 13(2): 105–124.
Takagi M, Shinohara H, Nagashima Y, Hasegawa Y, Narumi S, Hasegawa T. A novel dominant negative mutation in the intracellular domain of GHR is associated with growth hormone insensitivity. Clinical Endocrinology (Oxf). 2016; 85(4): 669–671.
Fujisawa Y, Fukami M, Hasegawa T, Uematsu A, Muroya K, Ogata T. Long–term clinical course in three patients with MAMLD1 mutations. Endocrine Journal. 2016; 63(9): 835–839.
Montalbano A, Juergensen L, Roeth R, Weiss B, Fukami M, Fricke–Otto S, Binder G, Ogata T, Decker E, Nuernberg G, Hassel D, Rappold GA. Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency. EMBO Molecular Medicine. 2016; 8(12): 1455–1469.
Goto M, Yamamoto Y, Ishii M, Nakamura A, Sano S, Kagami M, Fukami M, Saito R, Araki S, Kubo K, Kawagoe R, Kawada Y, Kusuhara K. Sporadic pseudohypoparathyroidism type–1b with asymptomatic hypocalcemia. Pediatrics International. 2016; 58(11): 1229–1231.
Mitani M, Furuichi M, Narumi S, Hasegawa T, Chiga M, Uchida S, Sato S. A patient with pseudohypoaldosteronism type II complicated by congenital hypopituitarism carrying a KLHL3 mutation. Clin Pediatr Endocrinol. 2016; 25: 127–134.
Ohishi A, Nishimura G, Kato F, Ono H, Maruwaka K, Ago M, Suzumura H, Hirose E, Uchida Y, Fukami M, Ogata T. Mutation analysis of FGFR1–3 in 11 Japanese patients with syndromic craniosynostoses. American Journal of Medical Genetics A. 2017; 173(1): 157–162.
Matsubara K, Murakami N, Fukami M, Kagami M, Nagai T, Ogata T. Risk assessment of medically assisted reproduction and advanced maternal ages in the development of Prader–Willi syndrome due to UPD(15)mat. Clinical Genetics. 2016; 89(5): 614–619.
Fujisawa Y, Sakaguchi K, Ono H, Yamaguchi R, Kato F, Kagami M, Fukami M, Ogata T. Combined steroidogenic characters of fetal adrenal and Leydig cells in childhood adrenocortical carcinoma. Journal of Steroid Biochemistry and Molecular Biology. 2016; 159: 86–93.
Omokawa M, Ayabe T, Nagai T, Imanishi A, Omokawa A, Nishino S, Sagawa Y, Shimizu T, Takashi Kanbayashi T. Decline of CSF Orexin (Hypocretin) levels in Prader–Willi Syndrome. American Journal of Medical Genetics A. 2016; 170A(5): 1181–1186.
Inoue T, Murakami N, Ayabe T, Oto Y, Nishino I, Goto Y, Koga Y, Sakuta R. Pyruvate improved the insulin secretion status in a mitochondrial diabetes mellitus patient. The Journal of Clinical Endocrinology and Metabolism. 2016; 101(5): 1924–1926.
Maruo Y, Nagasaki K, Matsui K, Mimura Y, Mori A, Fukami M, Takeuchi Y. Natural course of congenital hypothyroidism by dual oxidase 2 mutations from the neonatal period through puberty. European Journal of Endocrinology. 2016; 174(4): 453–463.
Sano S, Matsubara K, Nagasaki K, Kikuchi T, Nakabayashi K, Hata K, Fukami M, Kagami M, Ogata T. Beckwith–Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus methylation defects. Journal of Human Genetics. 2016; 61(8): 765–769.
Ho–Ming Luk, Fai–Man Ivan Lo, Sano S, Matsubara K, Nakamura A, Ogata T, Kagami M. Silver–Russell syndrome in a patient with somatic mosaicism for upd(11)mat identified by buccal cell analysis. American Journal of Medical Genetics A. 2016; 170(7): 1938–1941.
Narumi S, Amano N, Ishii T, Katsumata N, Muroya K, Adachi M, Toyoshima K, Tanaka Y, Fukuzawa R, Miyako K, Kinjo S, Ohga S, Ihara K, Inoue H, Kinjo T, Hara T, Kohno M, Yamada S, Urano H, Kitagawa Y, Tsugawa K, Higa A, Miyawaki M, Okutani T, Kizaki Z, Hamada H, Kihara M, Shiga K, Yamaguchi T, Kenmochi M, Kitajima H, Fukami M, Shimizu A, Kudoh J, Shibata S, Okano H, Miyake N, Matsumoto N, Hasegawa T. SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7. Nature Genetics. 2016; 48(7): 792–797.
Yokoi T, Nishina S, Fukami M, Ogata T, Hosono K, Hotta Y, Azuma N. Genotype–phenotype correlation of PAX6 gene mutations in aniridia. Human Genome Variation. 2016; 3: 15052.
Koyama Y, Homma K, Fukami M, Miwa M, Ikeda K, Ogata T, Murata M, Hasegawa T. Classic and non–classic 21–hydroxylase deficiency can be discriminated from P450 oxidoreductase deficiency in Japanese infants by urinary steroid metabolites. Clinical Pediatric Endocrinology. 2016; 25(2): 37–44.
Goto M, Kagami M, Nishimura G, Yamagata T. A patient with Temple Syndrome satisfying the clinical diagnostic criteria of Silver?Russell syndrome. American Journal of Medical Genetics A. 2016; 170(9): 2483–2485.
Fukami M, Seki A, Ogata T. SHOX haploinsufficiency as a cause of syndromic and non–syndromic short stature. Molecular Syndromology. 2016; 7(1): 3–11.
Fukami M, Shima H, Suzuki E, Ogata T, Matsubara K, Kamimaki T. Catastrophic
cellular events leading to complex chromosomal rearrangements in the germline.
Clin Genet. 201;91:653-660
Kagami M, Ogata T. Kagami–Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region. Journal of Human Genetics. 2016; 61(2): 8794.
2015
Igarashi M, Mikami H, Katsumi M, Miyado M, Izumi Y, Ogata T, Fukami M. SOX3 overdosage permits normal sex development in females with random X inactivation. Sexual Development. 2015; 9(3): 125–129.
Kon M, Suzuki E, Dung VC, Hasegawa Y, Mitsui T, Muroya K, Ueoka K, Igarashi N, Nagasaki K, Oto Y, Hamajima T, Yoshino K, Igarashi M, Kato–Fukui Y, Nakabayashi K, Hayashi K, Hata K, Matsubara Y, Moriya K, Ogata T, Nonomura K, Fukami M. Molecular basis of non–syndromic hypospadias: systematic mutation screening and genome–wide copy–number analysis of 62 patients. Human Reproduction. 2015; 30(3): 499–506.
Katoh–Fukui Y, Igarashi M, Nagasaki K, Horikawa R, Nagai T, Tsuchiya T, Suzuki E, Miyado M, Hata K, Nakabayashi K, Hayashi K, Matsubara Y, Baba T, Morohashi K, Igarashi A, Ogata T, Takada S, Fukami M. Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX9. Molecular Genetics & Genomic Medicine. 2015; 3(6): 550–557.
Suzuki E, Izumi Y, Chiba Y, Horikawa R, Matsubara Y, Tanaka M, Ogata T, Fukami M, Naiki Y. Loss–of–function SOX10 mutation in a patient with Kallmann syndrome, hearing loss, and iris hypopigmentation. Hormone Research in Pediatrics. 2015; 84(3): 212–216.
Fukami M, Naiki Y, Muroya K, Hamajima T, Soneda S, Horikawa R, Jinno T, Katsumi M, Nakamura A, Asakura Y, Adachi M, Ogata T, Kanzaki S. Japanese SHOX study group. Rare pseudoautosomal copy–number variations involving SHOX and/or its flanking regions in individuals with and without short stature. Journal of Human Genetics. 2015; 60(9): 553–556.
Miyado M, Miyado K, Katsumi M, Saito K, Nakamura A, Shihara D, Ogata T, Fukami M. Parturition failure in mice lacking Mamld1. Scientific Reports. 2015; 5: 14705.
Kagami M, Kurosawa K, Miyazaki O, Ishino F, Matsuoka K, Ogata T. Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami–Ogata syndrome). European Journal of Human Genetics. 2015; 23: 1488–1498
Ruiz–Arana IL, Hubner A, Cetingdag C, Krude H, Gruters A, Fukami M, Biebermann H, Kohler B. A novel hemizygous mutation of MAMLD1 in a patient with 46,XY complete gonadal dysgenesis. Sexual Development. 2015; 9(2): 80–85.
Sano S, Iwata H, Matsubara K, Fukami M, Kagami M, Ogata T. Growth hormone deficiency in monozygotic twins with autosomal dominant pseudohypoparathyroidism type Ib. Endocrine Journal. 2015; 62(6): 523–529.
Yagi H, Takagi M, Kon M, Igarashi M, Fukami M, Hasegawa Y. Fertility preservation in a family with a novel NR5A1 mutation. Endocrine Journal. 2015; 62(3): 289–295.
Okuno M, Ogata T, Nakabayashi K, Urakami T, Fukami M, Nagasaki K. Endocrinopathies in a boy with cryptic copy–number variations on 4q, 7q, and Xp. Human Genome Variation. 2015; 2: 15020
Yorifuji T, Matsubara K, Sakakibara A, Hashimoto Y, Kawakita R, Hosokawa Y, Fujimaru R, Murakami A, Tamagawa N, Hatake K, Nagasaka H, Suzuki J, Urakami T, Izawa M, Kagami M. Abnormalities in chromosome 6q24 as a cause of early–onset, non–obese, non–autoimmune diabetes mellitus without history of neonatal diabetes. Diabetic Medicine. 2015; 32(7): 963–967.
Watanabe T, Go H, Kagami M, Yasuda S, Nomura Y, Fujimori K. Prenatal findings and epimutations for paternal uniparental disomy for chromosome 14 syndrome. Journal of Obstetrics and Gynaecology Research. 2015; 41(7): 1133–1136.
Suzumori N, Kagami M, Kumagai K, Goto S, Matsubara K, Sano S, Sugiura–Ogasawara M. Clinical and molecular findings in a patient with 46,XX/47,XX,+14 mosaicism caused by postzygotic duplication of a paternally derived chromosome 14. American Journal of Medical Genetics A. 2015; 167A(10): 2474–2477.
Matsubara K, Kagami M, Nakabayashi K, Hata K, Fukami M, Ogata T, Yamazawa K. Exploration of hydroxymethylation in Kagami–Ogata syndrome caused by hypermethylation of imprinting control regions. Clinical Epigenetics. 2015; 7: 90.
Tonoike A, Hori Y, Inoue–Murayama M, Konno A, Fujita K, Miyado M, Fukami M, Nagasawa M, Mogi K, Kikusui T. Copy number variations in the amylase gene AMY2B in Japanese native dog breeds. Animal Genetics. 2015; 46: 580–583.
Nagata E, Haga N, Fujisawa Y, Fukami M, Nishimura G, Ogata T. Femoral–tibial–digital malformations in a boy with the Japanese founder triplication of BHLHA9. American Journal of Medical Genetics A. 2015; 167A(12): 3226–3228.
Gito M, Ihara H, Ogata H, Sayama M, Murakami N, Nagai T, Ayabe T, Oto Y, Shimoda K. Gender differences in the behavioral symptom severity of Prader–Willi Syndrome. Behavioural Neurology. 2015: 294127.
Ye?iltepe Mutlu G, K?rm?z?bekmez H, Nakamura A, Fukami M, Hatun ?. A novel de novo GATA binding protein 3 mutation in a Turkish boy with hypoparathyroidism, deafness, and renal dysplasia syndrome. Journal of Clinical Research in Pediatric Endocrinology. 2015; 7(4): 344–348.
Kon M, Fukami M. Submicroscopic copy–number variations associated with 46,XY disorders of sex development. Molecular and Cellular Pediatrics. 2015; 2(1): 7.
Kon M, Fukami M. Genome–wide copy number analysis and systematic mutation screening in 58 patients with hypogonadotropic hypogonadism. Uro today. 2015.
Kon M, Suzuki E, Dung VC, Hasegawa Y, Mitsui T, Muroya K, Ueoka K, Igarashi
N, Nagasaki K, Oto Y, Hamajima T, Yoshino K, Igarashi M, Kato–Fukui Y,
Nakabayashi K, Hayashi K, Hata K, Matsubara Y, Moriya K, Ogata T, Nonomura
K, Fukami M. Molecular basis of non–syndromic hypospadias: Systematic mutation
screening and genome–wide copy–number analysis of 62 patients. Hum Reprod.
2015;30:499-506.
2014
Fukami M, Suzuki J, Nakabayashi K, Tsunasima R, Ogata T, Shozu M, Noguchi S. Lack of Genomic Rearrangements Involving the Aromatase Gene CYP19A1 in Breast Cancer. Breast Cancer. 21(3):382–385, 2014.
Shihara D, Miyado M, Nakabayashi K, Shozu M, Ogata T, Nagasaki K, Fukami M. Aromatase excess syndrome in a family with upstream deletion of CYP19A1. Clinical Endocrinology. 81(2):314–316, 2014.
Tsuchiya T, Shibata M, Numabe H, Jinno T, Nakabayashi K, Nishimura G, Nagai T, Ogata T, Fukami M. Compound heterozygous deletions in pseudoautosomal region 1 in an infant with mild manifestations of Langer mesomelic dysplasia. American Journal of Medical Genetics Part A. 164A(2):505–510, 2014.
Nagasaki K, Asami T, Sato H, Ogawa Y, Kikuchi T, Saitoh A, Ogata T, Fukami M. Long term follow up study for a patient with Floating–Harbor syndrome due to a hotspot SRCAP mutation. American Journal of Medical Genetics Part A. 164A(3):731–735, 2014.
Suzuki E, Yatsuga S, Igarashi M, Miyado M, Nakabayashi K, Hayashi K, Hata K, Umezawa A, Yamada G, Ogata T, Fukami M. De Novo Frameshift Mutation in Fibroblast Growth Factor 8 in a Male Patient with Gonadotropin Deficiency. Hormone Research in Paediatrics. 81(2):139–144, 2014.
Saito R, Yamamoto Y, Goto M, Araki S, Kubo K, Kawagoe R, Kawada Y, Kusuhara K, Igarashi M, Fukami M. Tamoxifen Treatment for Pubertal Gynecomastia in Two Siblings with Partial Androgen Insensitivity Syndrome. Hormone Research in Paediatrics. 81(3):211–216, 2014.
Sasaki A, Sumie M, Wada S, Kosaki R, Kurosawa K, Fukami M, Sago H, Ogata T, Kagami M. Prenatal genetic testing for a microdeletion at chromosome 14q32.2 imprinted region leading to UPD(14)pat–like phenotype. American Journal of Medical Genetics Part A. 164A(1):264–266, 2014.
Kato F, Hamajima T, Hasegawa T, Amano N, Horikawa R, Nishimura G, Nakashima S, Fuke T, Sano S, Fukami M, Ogata T. IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients. Clinical Endocrinology. 80(5):706–713, 2014.
Abe Y, Nagasaki K, Watababe T, Abe T, Fukami M. Association between compound heterozygous mutations of SLC34A3 and hypercalciuria. Hormone Research in Paediatrics. 82(1):65–71, 2014.
Ogata T, Niihori T, Tanaka N, Kawai M, Nagashima T, Funayama R, Nakayama K, Nakashim S, Kato F, Fukami M, Aoki Y, Matsubara Y. TBX1 Mutation Identified by Exome Sequencing in a Japanese Family with 22q11.2 Deletion Syndrome–like Craniofacial Features and Hypocalcemia. PLOS ONE. 9(3):e91598, 2014.
Matsubara K, Kataoka N, Ogita S, Sano S, Ogata T, Fukami M, Katsumata N. Uniparental disomy of chromosome 8 leading to homozygosity of a CYP11B1 mutation in a patient with congenital adrenal hyperplasia: Implication for a rare etiology of an autosomal recessive disorder. Endocrine Journal. 61(6):629–633, 2014.
Suzuki J, Azuma N, Dateki S, Soneda S, Muroya K, Yamamoto Y, Saito R, Sano S, Nagai T, Wada H, Endo A, Urakami T, Ogata T, Fukami M. Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities. Journal of Human Genetics. 59(6):353–356, 2014.
Izumi Y, Suzuki E, Kanzaki S, Yatsuga S, Kinjo S, Igarashi M, Maruyama T, Sano S, Horikawa R, Sato N, Nakabayashi K, Hata K, Umezawa A, Ogata T, Yoshimura Y, Fukami M. Genome–wide copy number analysis and systematic mutation screening in 58 patients with hypogonadotropic hypogonadism. Fertility and Sterility. 102(4):1130–1136, 2014.
Inui M, Miyado M, Igarashi M, Tamano M, Kubo A, Yamashita S, Asahara H, Fukami M, Takada S. Rapid generation of mouse models with defined point mutations by the CRISPR/Cas9 system. Scientific Reports. 4:5396, 2014.
Nakashima S, Ohishi A, Takada F, Kawamura H, Igarashi M, Fukami M, Ogata T. Clinical and molecular studies in four patients with SRY–positive 46,XX testicular disorders of sex development: implications for variable sex development and genomic rearrangements. J Hum Genet. 2014;59:549-553/
Izumi Y, Musha I, Suzuki E, Iso M, Jinno T, Horikawa R, Amemiya S, Ogata T, Fukami M, Ohtake A. Hypogonadotropic hypogonadism in a female patient previously diagnosed as having Waardenburg syndrome due to a SOX10 mutation. Endocrine. 2014 in press.
Nagata E, Hiroki Kano H, Kato F, Yamaguchi R, Nakashima S, Takayama S, Kosaki R, Tonoki H, Mizuno S, Watanabe S, Yoshiura K–I, Kosho T, Hasegawa T, Kimizuka M, Suzuki A, Shimizu K, Ohashi H, Haga N, Numabe H, Horii E, Nagai T, Yoshihashi H, Nishimura G, Toda T, Takada S, Yokoyama S, Asahara H, Sano S, Fukami M, Ikegawa S, Ogata T. Japanese founder duplications/triplications involving BHLHA9 are associated with split–hand/foot malformation with or without long bone deficiency and Gollop–Wolfgang complex. Orphanet Journal of Rare Diseases. 9:125,2014.
Miyake Y, Tanaka K, Nishikawa T, Naruse M, Takayanagi R, Sasano H, Takeda Y, Shibata H, Sone M, Satoh F, Yamada M, Ueshiba H, Katabami T, Iwasaki Y, Tanaka H, Tanahashi Y, Suzuki S, Hasegawa T, Katsumata N, Tajima T, Toshihiko Yanase T. Prognosis in patients with primary aldosteronism in Japan: results from a nationwide epidemiological study. Endocrine Journal. 61(1):35–40, 2014.
Yoshizawa–Ogasawara A, Katsumata N, Horikawa R, Satoh M, Urakami T, Tanaka T. Third–generation aromatase inhibitor Improved adult height in a Japanese boy with testotoxicosis. Clinical Pediatric Endocrinology 23(2): 53–58, 2014.
Takasawa K, Ono M, Hijikata A, Matsubara Y, Katsumata N, Takagi M, Morio T, Ohara O, Kashimada K, Mizutani S. Two novel HSD3B2 missense mutations with diverse residual enzymatic activities for Δ5–steroids. Clinical endocrinology (Oxford). 80(6):782–789, 2014.
Kosaki R, Takenouchi T, Takeda N, Kagami M, Nakabayashi K, Hata K, Kosaki K. Somatic CTNNB1 mutation in hepatoblastoma from a patient with Simpson–Golabi–Behmel syndrome and germline GPC3 mutation. American Journal of Medical Genetics Part A. 164A(4):993–997, 2014.
Maeda T, Higashimoto K, Jozaki K, Yatsuki H, Nakabayashi K, Makita Y, Tonoki H, Okamoto N, Takada F, Ohashi H, Migita M, Kosaki R, Matsubara K, Ogata T, Matsuo M, Hamasaki Y, Ohtsuka Y, Nishioka K, Joh K, Mukai T, Hata K, Soejima H. Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith–Wiedemann syndrome with epimutations. Genetics in Medicine 16(12):903–912, 2014.
Kawano N, Miyado K, Yoshii N, Kanai S, Saito H, Miyado M, Inagaki N, Odawara Y, Hamatani T, Umezawa A. Absence of CD9 reduces endometrial VEGF secretion and impairs uterine repair after parturition. Scientific Reports. 4:4701, 2014.
Igarashi M, Hippo Y, Ochiai M, Fukuda H, Nakagama H. Akt is critically involved in cooperation between obesity and the dietary carcinogen amino–1–methyl–6–phenylimidazo [4,5–b] (PhIP) in rats. Biochemical and Biophysical Research Communications. 17(443):852–857, 2014.
Fukami M, Miyado M, Nagasaki K, Shozu M, Ogata T. Aromatase excess syndrome: A rare autosomal dominant disorder leading to pre– or peri–pubertal onset gynecomastia. Pediatric Endocrinology Reviews 11(3):298–305, 2014.
Shozu M, Fukami M, Ogata T. Understanding the pathological manifestations of aromatase excess syndrome: lessons for the clinic. Expert Review of Endocrinology and Metabolism 2014.
Seki A, Jinno T, Suzuki E, Takayama S, Ogata T, Fukami M. Skeletal deformity associated with SHOX deficiency. Clinical Pediatric Endocrinology 23(3):65–72, 2014.
Shihara D, Miyado M, Nakabayashi K, Shozu M, Ogata T, Nagasaki K, Fukami
M. Aromatase Excess Syndrome in a Family with Upstream Deletion of CYP19A1.
Clin Endocrinol (Oxf). 2014;81:314-316.
2013
HigashimotoK, Jozaki K,Kosho T,Matsubara K, FukeT, Yamada D, YatsukiH, Maeda T, OhtsukaY, NishiokaK, Joh K, Koseki H, Ogata T,SoejimaH. A novel de novo point mutation of the OCT–binding site in theIGF2/H19–imprinting control region in a Beckwith–Wiedemannsyndrome patient. Clinical Genetics. 86(6):539–544, 2013.
KatohM, IgarashiM, Fukuda H, NakagamaH, Katoh M. Cancer genetics and genomics of human FOXfamily genes. Cancer Letters. 328:198–206, 2013.
MiyabayashiK, Katoh–FukuiY, Ogawa H, Baba T, Shima Y, Sugiyama N, Kitamura K, Morohashi K. Aristaless related homeobox gene, Arx, is implicatedin mouse fetal Leydig cell differentiation possibly through expressing in theprogenitor cells. PLOS ONE. 8:e68050, 2013,
Nagasaki K, Tsuchiya S, Saitoh A, Ogata T, Fukami M. Neuromuscular Symptoms in a Patient with Familial Pseudohypoparathyroidism Type Ib Diagnosed by Methylation–Specific Multiplex Ligation-Dependent Probe Amplification. Endocr J. 60(2):231–236, 2013.
Ayabe T, Matsubara K. Ogata T, Ayabe A, Murakami N, Nagai T, Fukami M. Birth Seasonality in Prader–Willi Syndrome Resulting from Chromosome 15 Microdeletion. Am J Med Genet A 161(6):1495–1497, 2013.
Yamaguchi R, Kato F, Hasegawa T, Katsumata N, Fukami M, Matsui T, Nagasaki K, Ogata T. A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency. Endocr J. 60(7):855–859, 2013.
Fukami M, Iso M, Sato N, Igarashi M, Seo M, Kazukawa I, Kinoshita E, Dateki S, Ogata T. Submicroscopic deletion involving the fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiency. Endocr J. 60(8):1013–1020, 2013.
Fukami M, Suzuki J, Nakabayashi K, Tsunasima R, Ogata T, Shozu M, Noguchi
S. Lack of Genomic Rearrangements Involving the Aromatase Gene CYP19A1
in Breast Cancer. Breast Cancer. 2014;21:382-385.
Matsumura T, Imamichi Y, Mizutani T, Ju Y, Yazawa T, Kawabe S, Kanno M, Ayabe T, Katsumata N, Fukami M, Inatani M, Akagi Y, Umezawa A, Ogata T, Miyamoto K. Human glutathione S–transferase A (GSTA) family genes are regulated by steroidogenic factor 1 (SF–1) and are involved in steroidogenesis. FASEB J. 227(8):3198–3208,2013.
Hayashi M, Kataoka Y, Sugimura Y, Kato F, Fukami M, Ogata T, Homma K, Hasegawa T, Oiso Y, Sasano H, Tanaka H. A 68–year–old phenotypically male patient with 21–hydroxylase deficiency and concomitant adrenocortical neoplasm producing testosterone and cortisol. Tohoku J Exp Med. 231(2):75–84, 2013.
Igarashi M, Dung VC, Suzuki E, Ida S, Nakacho M, Nakabayashi K, Mizuno K, Hayashi Y, Kohri K, Kojima Y, Ogata T, Fukami M. Cryptic Genomic Rearrangements in Three Patients with 46,XY Disorders of Sex Development. Plos One 8(7):e68194, 2013.
Tsuchiya T, Shibata M, Numabe H, Jinnno T, Nakabayashi K, Nishimura G, Nagai T, Ogata T, Fukami M. Compound Heterozygous Deletions in Pseudoautosomal Region 1 in an Infant with Mild Manifestations of Langer Mesomelic Dysplasia. Am J Med Genet 2013 [Epub ahead of print].
Nagasaki K, Asami T, Sato H, Ogawa Y, Kikuchi T, Saitoh A, Ogata T, Fukami M. Long Term Follow Up Study for a Patient with Floating–Harbor Syndrome Due to a Hotspot SRCAP Mutation. Am J Med Genet 2013 [Epub ahead of print].
Suzuki E, Yatsuga S, Igarashi M, Miyado M, Nakabayashi K, Hayashi K, Hata K, Umezawa A, Yamada G, Ogata T, Fukami M. De Novo Frameshift Mutation in Fibroblast Growth Factor 8 in a Male Patient with Gonadotropin Deficiency. Horm Res Paediatr 2013 [Epub ahead of print].
Fukami M, Tsuchiya T, Vollbach H, Brown KA, Abe S, Ohtsu S, Wabitsch M, Burger H, Simpson ER, Umezawa A, Shihara D, Nakabayashi K, Bulun SE, Shozu M, Ogata T. Genomic Basis of Aromatase Excess Syndrome: Recombination– and Replication–Mediated Rearrangements Leading to CYP19A1 Overexpression. J Clin Endocrinol Metab, 2013 [Epub ahead of print].
Nakashima S, Watanabe Y, Okada J, Ono H, Nagata E, Fukami M, Ogata T. Critical role of Yp inversion in PRKX/PRKY–mediated Xp;Yp translocation in a patient with 45,X testicular disorder of sex development. Endocr J. 2013 [Epub ahead of print].
Fukami M, Homma K, Hasegawa T, Ogata T. Backdoor pathway for Dihydrotestosterone Biosynthesis: Implications for normal and abnormal human sex development. Dev Dyn. 2013 ;242(4):320–9.
2012
Kalfa N, Fukami M, Philibert P, Audran F, Pienkowski C, Weill J., Pinto G., manouvrier S., Polak M. Ogata, T, Sultan C. Screening of MAMLD1 mutations in 70 children with 46, XY DSD : identification and functional analysis of two new mutations. PLoS One. 7(3):e32505, 2012.
Koyama Y, Homma K, Fukami M, Miwa M, Ikeda K, Ogata T, Hasegawa T, Murata M. Two–Step Biochemical Differential Diagnosis of Classic 21–Hydroxylase Deficiency and Cytochrome P450 Oxidoreductase Deficiency in Japanese Infants by GC–MS Measurement of Urinary Pregnanetriolone/Tetrahydroxycortisone Ratio and 11β–Hydroxyandrosterone. Clin Chem. 58(4):741–7, 2012.
Fukami M, Tsuchiya T, Takada S, Kanbara A, Asahara H, Igarashi A, Kamiyama Y, Nishimura G, Ogata T. Complex genomic rearrangement in the SOX9 5' region in a patient with Pierre Robin sequence and hypoplastic left scapula. Am J Med Genet A. 158A(7):1529–34. 2012.
Nagasaki K, Iida T, Sato H, Ogawa Y, Kikuchi T, Saitoh A, Ogata T, Fukami M. PRKAR1A mutation affecting cAMP–mediated G–protein–coupled receptor signaling in a patient with acrodysostosis and hormone resistance. J Clin Endocrinol Metab 97(9):E1808–13, 2012.
Ogata T, Fukami M, Yoshida R, Nagata E, Fujisawa Y, Yoshida A, Yoshimura Y. Haplotype analysis of ESR2 in Japanese patients with spermatogenic failure. J Hum Genet. 57(7):449–452, 2012.
Qin XY, Kojima Y, Mizuno K, Ueoka K, Muroya K, Miyado M, Zaha H, Akanuma H, Zeng Q, Fukuda T, Yoshinaga J, Yonemoto J, Kohri K, Hayashi Y, Fukami M, Ogata T, Sone H. Identification of novel low–dose bisphenol a targets in human foreskin fibroblast cells derived from hypospadias patients. PLoS One. 7(5):e36711, 2012.
Kagami M, Matsuoka K, Nagai T, Yamanaka M, Kurosawa K, Suzumori N, Sekita Y, Miyado M, Matsubara K, Fuke T, Kato F, Fukami M, Ogata T. Paternal uniparental disomy 14 and related disorders: Placental gene expression analyses and histological examinations. Epigenetics. 7(10):1142–50, 2012.
Miyado M, Nakamura M, Miyado K, Morohashi K, Sano S, Nagata E, Fukami M, Ogata T. Mamld1 Deficiency Significantly Reduces mRNA Expression Levels of Multiple Genes Expressed in Mouse Fetal Leydig Cells but Permits Normal Genital and Reproductive Development. Endocrinology. 153(12):6033–40, 2012.
Qin XY, Sone H, Kojima Y, Mizuno K, Ueoka K, Muroya K, Miyado M, Hisada A, Zaha H, Fukuda T, Yoshinaga J, Yonemoto J, Kohri K, Hayashi Y, Fukami M, Ogata T. Individual variation of the genetic response to bisphenol a in human foreskin fibroblast cells derived from cryptorchidism and hypospadias patients. PLoS One 7(12):e52756, 2012.
Ikemoto S, Sakurai K, Kuwashima N, Saito Y, Miyata I, Katsumata N, Ida H. A case of Allgrove syndrome with a novel IVS7+1G>A mutation of the AAAS gene. Clin Pediatr Endocrinool 21(1):11–13, 2012.
Isojima T, Shimatsu A, Yokoya S, Chihara K, Tanaka T, Hizuka N, Teramoto A, Tatsumi KI, Tachibana K, Katsumata N, Horikawa R. Standardized centile curves and reference intervals of serum insulin–like growth factor–I (IGF–I) levels in a normal Japanese population using the LMS method. Endocr J 59(9):771–780, 2012.
Kagami M, Kato F, Matsubara K, Sato T, Nishimura G, Ogata T. Relative frequency of underlying genetic causes for the development of UPD(14)pat–like phenotype. Eur J Hum Genet, 20(9):928?932, 2012.
Hiura H, Okae H, Miyauchi N, Sato F, Sato A, Van De Pette M, John RM, Kagami M, Nakai K, Soejima H, Ogata T, Arima T. Characterization of DNA methylation errors in patients with imprinting disorders conceived by assisted reproduction technologies. Hum Reprod, 27(8):2541–2548, 2012.
Stoppa–Vaucher S, Ayabe T, Paquette J, Patey N, Francoeur D, Vuissoz JM, Deladoey J, Samuels M, Ogata T, Deal C. 46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism. Clin Genet. 82(6):505–513, 2012.
Mitsui T, Nagasaki K, Takagi M, Narumi S, Ishii T, Hasegawa T. A family of pseudohypoparathyroidism type Ia with an 850–kb submicroscopic deletion encompassing the whole GNAS locus. Am J Med Genet A. 58A(1):261–264, 2012.
Saito T, Nagasaki K, Nishimura G, Takagi M, Hasegawa T, Uchiyama M. Radiological clues to the early diagnosis of hypochondroplasia in the neonatal period: report of two patients. Am J Med Genet A. 158A(3):630–634, 2012.
Nagasaki K, Iida T, Sato H, Ogawa Y, Kikuchi T, Saitoh A, Ogata T, Fukami M. PRKAR1A mutation affecting cAMP–mediated G protein–coupled receptor signaling in a patient with acrodysostosis and hormone resistance. J Clin Endocrinol Metab. 97(9):E1808–1813, 2012.
Nagasaki K, Tsuchiya S, Saitoh A, Ogata T, Fukami M. Neuromuscular symptoms in a patient with familial pseudohypoparathyroidism type Ib diagnosed by methylation–specific multiplex ligation–dependent probe amplification. Endocr J. 2012 Oct 25. [Epub ahead of print]
Jinguji S, Fukuda M, Nagasaki K, Fujii Y. A Pineal Region Germ Cell Tumor with Rapid Enlargement After a Long–term Follow–up. Neurosurgery. 2012 Dec 28. [Epub ahead of print]
Suzuki J, Takahashi S. Subcutaneous Emphysema and Pneumomediastinum due to Carbon Dioxide Laser Therapy. J Pediatr 161(1):167, 2012.
Ohnami N, Nakamura A, Miyado M*, Sato M, Kawano N, Yoshida K, Harada Y, Takezawa Y, Kanai S, Ono C, Takahashi Y, Kimura K, Shida T, Miyado K and Umezawa A. CD81 and CD9 work independently as extracellular components upon fusion of sperm and oocyte. Biol Open. 1(7): 640–647, 2012.
Katoh–Fukui Y, Miyabayashi K, Komatsu T, Owaki A, Baba T, Shima Y, Kidokoro T, Kanai Y, Schedl A, Wilhelm D, Koopman P, Okuno Y, Morohashi K. Cbx2, a polycomb group gene, is required for Sry gene expression in mice. Endocrinology 153(2): 913–924, 2012.
Fukami M, Shozu M. Ogata T. Molecular Bases and Phenotypic Determinants of Aromatase Excess Syndrome. Int J Endocrinol 584807, 2012.
Fukami M. A Commentary on Association of variants in genes involved in environmental chemical metabolism and risk of cryptorchidism and hypospadias. J Hum Genet 57: 405–406, 2012.
Katsumata N. Genetic defects in pregnenolone synthesis. Pediatr Endocrinol Rev 10(1):98–109, 2012.
2011
al Kandari HM, Katsumata N, al Alwan I, al Balwi M, Rasoul MA. Familial glucocorticoid deficiency in five Arab kindreds with homozygous point mutations of the ACTH receptor (MC2R): genotype and phenotype correlations. Horm Res Paediatr 76(3):165–171, 2011.
Katsumata N, Ishiguro A, Watanabe H. Fabry disease superimposed on overt autoimmune hypothyroidism. Clin Pediatr Endocrinool 20(4):95–98, 2011.
Inoue H, Kangawa N, Kinouchi A, Sakamoto Y, Kimura C, Horikawa R, Shigematsu Y, Itakura M, Ogata T, Fujieda K. Identification and functional analysis of novel human growth hormone–releasing hormone receptor (GHRHR) gene mutations in Japanese subjects with short stature. Clin Endocrinol 74(2):223–233, 2011.
Yamazawa K, Nakabayashi K, Matsuoka K, Matsubara K, Hata K, Horikawa R, Ogata T. Androgenetic/biparental mosaicism in a girl with Beckwith6–Wiedemann syndrome6–like and upd(14)pat6–like phenotypes. Journal of Human Genetics 56(1):916–93, 2011.
Inoue H, Kangawa N, Kinouchi A, Sakamoto Y, Kimura C, Horikawa R, Shigematsu Y, Itakura M, Ogata T, Fujieda K. Identification and functional analysis of novel human growth hormone secretagogue receptor (GHSR) gene mutations in Japanese subjects with short stature. The Journal of Clinical Endocrinology and Metabolism 96(2):E376–378, 2011.
Fukami M, Muroya K, Miyake T, Iso M, Yokoi H, Suzuki Y, Tsubouchi K, Nakagomi Y, Kikuchi N, Horikawa R, Ogata T. GATA3 abnormalities in six patients with HDR syndrome. Endocrine Journal 58(2):117–121, 2011.
Dateki S, Fukami M, Tanaka Y, Sasaki G, Moriuchi H, Ogata T. Identification of chromosome 15q terminal deletion with telomere sequences and its bearing on genotype–phenotype analysis. Endocrine Journal 58(3):155–159, 2011.
Brandao MP, Costa EM, Fukami M, Gerdulo M, Pereira NP, Domenice S, Ogata T, Mendonca BB. MAMLD1 (Mastermind–Like Domain Containing 1) Homozygous Gain–of–Function Missense Mutation Causing 46, XX Disorder of Sex Development in a Virilized Female. Advances in experimental medidine and biology 707:129–131, 2011.
Fukami M, Shozu M, Soneda S, Kato F, Inagaki A, Takagi H, Hanaki K, Kanzaki S, Ohyama K, Sano T, Nishigaki T, Yokoya S, Binder G, Horikawa R, Ogata T. Aromatase Excess Syndrome: Identification of Cryptic Duplications and Deletions Leading to Gain–of–Function of CYP19A1 and Assessment of Phenotypic Determinants. The Journal of Clinical Endocrinology and Metabolism 96(6):E1035–43, 2011.
Nakamura M, Fukami M, Sugawa F, Miyado M, Nonomura K, Ogata T. Mamld1 knockdown reduces testosterone production and Cyp17a1 expression in mouse Leydig tumor cells. PLoS One 6(4):e19123, 2011.
Matsubara K, Murakami N, Nagai T, Ogata T. Maternal age effect on the development of Prader–Willi syndrome resulting from upd(15)mat through meiosis 1 errors. J Hum Genet 56(8):566–71, 2011.
Nakabayashi K, Trujillo AM, Tayama C, Camprubi C, Yoshida W, Lapunzina P, Sanchez A, Soejima H, Aburatani H, Nagae G, Ogata T, Hata K, David Monk D. Methylation screening of reciprocal genome–wide UPDs identifies novel human specific imprinted genes. Hum Mol Genet 20(16):3188–97, 2011.
Inoue H, Sakamoto Y, Kangawa N, Kimura C, Ogata T, Fujieda K, Qian, ZR, SanoT, Itakura M. Analysis of expression and structure of the rat GH secretagogue/ghrelin receptor (Ghsr) gene: roles of epigenetic modifications in transcriptional regulation. Mol Cell Endocrinol 345:1–15, 2011.
Soneda S, Yazawa T, Fukami M, Adachi M, Mizota M, Fujieda K, Miyamoto K, Ogata T. Proximal promoter of the cytochrome P450 oxidoreductase gene: identification of microdeletions involving the untranslated exon 1 and critical function of the SP1 binding site. J Clin Endocrinol Metab 96(11):E1881–87, 2011.
Inoue H, Mukai T, Sakamoto Y, Kimura C, Kangawa N, Itakura M, Ogata T, Ito Y, Fujieda K. Identification of a novel mutation in the exon 2 splice donor site of the POU1F1/PIT–1 gene in Japanese identical twins with mild combined pituitary hormone deficiency. Clin Endocrinol 2012;76(1):78–87.
Ishizuka B, Okamoto N, Hamada N, Sugishita Y, Saito J, Takahashi N, Ogata T, Itoh MT. Number of CGG repeats in the FMR1 gene of Japanese patients with primary ovarian insufficiency. Fertil Steril 2011;96(5):1170–4.
Ayabe T, Ishizuka B, Maruyama T, Uchida H, Yoshimura Y, Yoshida R, Fukami M, Nagai T, Ogata T. Association of primary ovarian insufficiency with a specific HLA haplotype (A*24:02–C*03:03–B*35:01) in Japanese patients. Sex Dev 2011;5(5):235–40
Kalfa N, Cassorla F, Audran F, Oulad Abdennabi I, Philibert P, Beroud C, Guys JM, Reynaud R, Alessandrini P, Wagner K, Breaud J, Valla JS, Morisson Lacombe G, Daures JP, Baskin L, Fukami M, Ogata T, Sultan C. Polymorphisms of MAMLD1 gene in hypospadias. J Pediatr Uro 2011;7(6):585–91
Miyazaki O, Nishimura G, Kagami M, Ogata T. Radiological evaluation of dysmorphic thorax in paternal uniparental disomy for chromosome 14. Pediatric radiology 41(8):1013–9, 2011.
Takezawa Y, Yoshida K, Miyado K, Sato M, Nakamura A, Kawano N, Sakakibara K, Kondo T, Harada Y, Ohnami N, Kanai S, Miyado M, Saito H, Takahashi Y, Akutsu H, Umezawa A. Beta–catenin is a molecular switch that regulates transition of cell–cell adhesion to fusion. Scientific Reports 1: Article 68, 2011.
Nakamura A, Miyado K, Takezawa Y, Ohnami N, Sato M, Ono C, Harada Y, Yoshida K, Kawano N, Kanai S, Miyado M, Umezawa A. Innate immune system still works at diapause, a physiological state of dormancy in insects. Biochem Biophys Res Commun 410(2):351–7, 2011.
Ogata T, Matsubara K. Steroid 5alpha–reductase–2 deficiency and fertility. Fertil Steril 95(7): e46.
Kalfa N, Cassorla F, Abdennabi IO, Audran F, Philibert P, Daures JP, Baskin L, Fukami M, Ogata T, Sultan C. Exonic polymorphisms of MAMLD1 (CXorf6) are associated with hypospadias. J Urol. 2011. (in press)
Ogata T, Matsubara K, Nagata E, Sano S, Murakami N, Nagai T. Advanced maternal age and the development of Prader–Willi syndrome resulting from upd(15)mat through non–disjunction at meiosis 1. J Mamm Ova Res 28(3):96–102, 2011.
2010
Dateki S, Kosaka K, Hasegawa K, Tanaka H, Azuma N, Yokoya S, Muroya K, Adachi M, Tajima T, Motomura K, Kinoshita E, Moriuchi H, Sato N, Fukami M, Ogata T. Heterozygous Orthodenticle Homeobox 2 Mutations Are Associated with Variable Pituitary Phenotype. The Journal of Clinical Endocrinology and Metabolism 95(2):756–64, 2010.
Fukami M, Maruyama T, Dateki S, Sato N, Yoshimura Y, Ogata T. Hypothalamic dysfunction in a female with isolated hypogonadotropic hypogonadism and compound heterozygous TACR3 mutations and clinical manifestation in her heterozygous mother. Hormone Research 73(6):477–81, 2010.
Muroya K, Mochizuki T, Fukami M, Iso M, Fujita K, Ogata T. Diabetes Mellitus in a Japanese Girl with HDR Syndrome and GATA3 Mutation. Endocrine Journal 57(2):171–4, 2010.
Fukami M, Nagai T, Mochizuki H, Muroya K, Yamada G, Takitani K, Ogata T. Anorectal and urinary anomalies and aberrant retinoic acid metabolism in cytochrome P450 oxidoreductase deficiency. Molecular genetics and metabolism 100(3):2691–73, 2010.
Ashkenazi–Hoffnung L, Lebenthal Y, Wyatt AW, Ragge NK, Dateki S, Fukami M, Ogata T, Phillip M, Gat–Yablonski G. A novel loss–of–function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency. Human Genetics 127(6):721–9, 2010.
Iijima K, Nozu K, Kamei K, Nakayama M, Ito S, Matsuoka K, Ogata T, Kaito H, Nakanishi K, Matsuo M. Severe Alport syndrome in a young woman caused by a t(X;1)(q22.3;p36.32) balanced translocation. Pediatric nephrology 25(10):2165–70, 2010.
Matsubara K, Iwamoto H, Yoshida A, Ogata T. Semen analysis and successful paternity by intracytoplasmic sperm injection in a man with steroid 5alpha–reductase–2 deficiency. Fertility and sterility 94(7):2770.e7–10, 2010.
Dateki S, Fukami M, Uematsu A, Kaji M, Iso M, Ono M, Mizota M, Yokoya S, Motomura K, Kinoshita E, Moriuchi H, Ogata T. Mutation and Gene Copy Number Analyses of Six Pituitary Transcription Factor Genes in 71 Patients with Combined Pituitary Hormone Deficiency: Identification of a Single Patient with LHX4 Deletion. The Journal of clinical endocrinology and metabolism 95(8):4043–7, 2010.
Kagami M, O'Sullivan MJ, Green AJ, Watabe Y, Arisaka O, Masawa N, Matsuoka K, Fukami M, Matsubara K, Kato F, Ferguson–Smith AC, Ogata T. The IG–DMR and the MEG3–DMR at human chromosome 14q32.2: hierarchical interaction and distinct functional properties as imprinting control centers. PLoS genetics 6(6):e1000992, 2010.
Yamazawa K, Nakabayashi K, Kagami M, Satoh T, Hata K, Saitoh S, Nagai T, Horikawa R, Hizuka N, Ogata T. Parthenogenetic chimaerism/mosaicism with a Silverr–Russell syndromer–like phenotype. Journal of Medical Genetics 47(11):782–5, 2010.
Kato H, Yoshida R, Tsukamoto K, Suga H, Aoi N, Eto H, Higashino T, Araki J, Ogata T, Yoshimura K. Familial cases of atypical clinical features genetically diagnosed as multiple lentigines syndrome (LEOPARD syndrome). International Journal of Dermatology 49(10):1146–51, 2010.
Suzumori N, Ogata T, Mizutani E, Hattori Y, Matsubara K, Kagami M, Suguhara–Ogasawara M. Prenatal diagnosis of paternal uniparental disomy 14: delineation of further patient. American Journal of Medical Genetics A 152A(12):3189–92, 2010.
2009
Sugawa F, Wada Y, Okada M, Maruyama T, Uchida H, Arase T, Hamada N, Ishizuka B, Ogata T. Premature ovarian failure and androgen receptor gene CAG repeat lengths weighted by X chromosome inactivation patterns. Fertility and Sterility 91(2): 649–652, 2009.
Jongmans MC, van Ravenswaaij–Arts CM, Pitteloud N, Ogata T, Sato N, Claahsen–van der Grinten HL, van der Donk K, Seminara S, Bergman JE, Brunner HG, Crowley WF Jr, Hoefsloot LH. CHD7 mutations in patients initially diagnosed with Kallmann syndrome–the clinical overlap with CHARGE syndrome. Clinical Genetics 75(1): 65–71, 2009.
Hayakawa K, Katsumata N, Abe K, Hirano M, Yoshikawa K, Ogata T, Horikawa R, Nagamine T. Wide Range of Biotin (Vitamin H) Content in Foodstuffs and Powdered Milks as Assessed by High–performance Affinity Chromatography. Clinical Pediatric Endocrinology 18(1): 41–49, 2009.
Kobayashi H, Yamada K, Morita S, Hiura H, Fukuda A, Kagami M, Ogata T, Hata K, Sotomaru Y, Kono T. Identification of the mouse paternally expressed imprinted gene Zdbf2 on chromosome 1 and its imprinted human homolog ZDBF2 on chromosome 2. Genomics 93(5): 461–472, 2009.
Fukami M, Nishimura G, Homma K, Nagai T, Hanaki K, Uematsu A, TIshii T, Numakura C, Sawada H, Nakacho M, Kowase T, Motomura K, Haruna H, Nakamura M, Ohishi A, Adachi M, Tajima T, Hasegawa Y, Hasegawa T, RHorikawa R, Fujieda K, Ogata T. Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype–phenotype correlations in 35 Japanese patients. The Journal of Clinical Endocrinology and Metabolism 94(5): 1723–1731, 2009.
Sim SC, W Miller WL, Zhong X–B, Arlt W, Ogata T, Ding X, Wolf R, Fluck CE, Pandey AV, Henderson CJ, Porter TD, Daly AK, Nebert DW, Ingelman–Sundberg M. Nomenclature for alleles of the cytochrome P450 oxidoreductase gene. Pharmacogenetics and Genomics 19(7): 565–566, 2009.
Hosoki K, Kagami M, Tanaka T, Kubota M, Kurosawa K, Kato M, Uetake K, Tohyama J, Ogata T, Saitoh S. Maternal uniparental disomy 14 syndrome demonstrates prader–willi syndrome–like phenotype. The Journal of Pediatrics 155(6): 900–903, 2009 .
Wada Y, Nishimura G, Nagai T, Sawai H, Yishikata M, Miyagawa S, Hanita T, Sato S, Hasegawa T, Ishikawa S, Ogata T. Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia. American Journal of Medical Genetics A 149(12): 2882–2885, 2009.
Dateki S, Hizukuri K, Tanaka T, Katsumata N, Yokoya S, Katavetin P, Ogata T. An immunologically anomalous but considerably bioactive GH produced by a novel GH1 mutation (p.D116E). European Journal of Endocrinology 161(2): 301–306, 2009.
2008
Hosoki K, Ogata T, Kagami M, Tanaka T, Saitoh S. Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat–like phenotype. European Journal of Human Genetics 16(8): 1019–1023, 2008.
Iso M, Fumami M, Horikawa R, Azuma N, Kawashiro N, Ogata T. SOX10 Mutation in Waardenburg Syndrome Type II. American Journal of Medical Genetics A 146(16): 2162–2163, 2008.
Yamazawa K, Kagami M, Nagai T, Kondoh T, Onigata K, Maeyama K, Hasegawa T, Hasegawa Y, Yamazaki T, Mizuno S, Miyoshi Y, Miyagawa S, Horikawa R, Matsuoka K, Ogata T. Molecular and clinical findings and their correlations in Silver–Russell syndrome: implications for a positive role of IGF2 in growth determination and differential imprinting regulation of the IGF2–H19 domain in bodies and placentas. Journal of Molecular Medicine 86(10): 1171–1181, 2008.
Dateki S, Fukami M, Sato N, Muroya K, Adachi M, Ogata T. OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional studies using the IRBP, HESX1, and POU1F1 promoters. The Journal of Clinical Endocrinology and Metabolism 93(10): 3697–702, 2008.
Kagami M, Yamazawa K, Matsubara K, Matsuo N, Ogata T. Placentomegaly in paternal uniparental disomy for human chromosome 14. Placenta 29(8): 760–761, 2008.
Yamazawa K, Kagami M, Fukami M, Matsubara K, Ogata T. Monozygotic female twins discordant for Silver–Russell syndrome and hypomethylation of the H19–DMR. Journal of Human Genetics 53(10): 950–955, 2008.
Hayakawa K, Katsumata N, Hirano M, Yoshikawa K, Ogata T, Tanaka T, Nagamine T. Determination of biotin (vitamin H) by the high–performance affinity chromatography with a trypsin–treated avidin–bound column. Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences 869(1–2): 93–100, 2008.
Yoshida R, Ogata T. A Novel A461S Mutation of PTPN11 in a Female with LEOPARD Syndrome. Clinical Pediatric Endocrinology 17(4): 121–122, 2008.
Yamazawa K, Kagami M, Ogawa M, Horikawa R, Ogata T. Placental hypoplasia in maternal uniparental disomy for chromosome 7. American Journal of Medical Genetics A 146A: 514–516, 2008.
Suzuki K, Haraguchi R, Ogata T, Barbieri O, Alegria O, Vieux–Rochas M, Nakagata N, Ito M, Mills A, Kurita T, Levi G, Yamada G. Abnormal urethra formation in mouse models of split–hand/split–foot malformation type 1 and type 4. European Journal of Human Genetics 16; 36–44, 2008.
Kagami M, Sekita Y, Nishimura G, Irie M, Kato F, Okada M, Yamamori S, Kishimoto H, Nakayama M, Tanaka Y, Matsuoka K, Takahashi T, Noguchi M, Tanaka Y, Masumoto K, Utsunomiya T, Kouzan H, Komatsu Y, Ohashi H, Kurosawa K, Kosaki K, Ferguson–Smith AC, Ishino F, Ogata T. Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)–like phenotypes. Nature Genetics 40(2), 237–242, 2008.
Sekita Y, Wagatsuma H, Nakamura K, Ono R, Kagami M, Wakisaka N, Hino T, Ogura A, Ogata T, Yokoyama M, Kaneko–Ishino T, Ishino F. Suzuki–Migishima R, Takashi Kohda. Role of retrotransposon–derived imprinted gene, Rtl1, in the feto–maternal interface of mouse placenta. Nature Genetics 40(2), 243–248, 2008.
Yoshida R, Ogata T, Masawa N, Nagai T. Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation. Pediatr Blood & Cancer 50(6): 1274–1276, 2008.
Fukami M, Dateki S, Kato F, Hasegawa Y, Mochizuki H, Horikawa R, Ogata T. Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Leri–Weill dyschondrosteosis. Journal of Human Genetics 53(5), 454–459, 2008.
Fukami M, Wada Y, Okada M, Kato F, Katsumata N, Baba T, Morohashi K, Laporte J, Kitagawa M, Ogata T. Mastermind–like domain–containing 1 (MAMLD1 or CXorf6) transactivates the Hes3 promoter, augments testosterone production, and contains the SF1 target sequence. Journal of Biological Chemistry 283: 5525–5532, 2008.
Katsumata N, Horikawa R, Tanaka T. Novel missense mutation in the P–box of androgen receptor in a patient with androgen insensitivity syndrome. Endocrine Journal 55(1): 225–228, 2008.
2007
Sato N, Kamachi Y, Kondoh H, Shima Y, Morohashi K, Horikawa R, Ogata T. Hypogonadotropic hypogonadism in an adult female with a heterozygous hypomorphic mutation of SOX2. European Journal of Endocrinology 156(2): 167–171, 2007.
Watanabe M, Yoshida R, Ueoka K, Aoki K, Sasagawa I, Hasegawa T, Sueoka K, Kamitsuji S, Kamatani N, Yoshimura Y, Ogata T. Haplotype analysis of the estrogen receptor 1 gene in male genital and reproductive abnormalities. Human Reproduction 22(5): 1279–1284, 2007.
Kagami M, Nagai T, Fukami M, Yamazawa K, Ogata T. Silver–Russell syndrome in a girl born after in vitro fertilization: partial hypermethylation at the differentially methylated region of PEG1/MEST. Journal of Assisted Reproduction and Genetics 24(4): 131–136, 2007.
Ogata T, Tanaka T, Kagami M. Target height and target range for the Japanese children: revisited. Clinical Pediatric Endocrinology 16(4): 85–87, 2007.
Yamamoto K, Yoshida R, Ogata T. KRAS analysis in 34 PTPN11 mutation negative Noonan syndrome patients. Clinical Pediatric Endocrinology 16(4): 99–101, 2007.
Seishima M, Mizutani Y, Shibuya Y, Arakawa C, Yoshida R, Ogata T. Malignant melanoma in a woman with LEOPARD syndrome: identification of a germline PTPN11 mutation and a somatic BRAF mutation. The British Journal of Dermatology 157(6): 1297–9, 2007.
Sekiguchi Y, Hara Y, Matsuoka H, Hayashi Y, Katsumata N, Hirata Y. Sibling cases of Addison's disease caused by DAX–1 gene mutations. Internal Medicine 46(1): 35–39, 2007.
Uchikawa H, Fujii K, Kohno Y, Katsumata N, Nagao K, Yamada M, Miyashita T. U7 snRNA–mediated correction of aberrant splicing caused by activation of cryptic splice sites. Journal of Human Genetics 52(11): 891–897, 2007.
Shinagawa T, Horikawa R, Isojima T, Naiki Y, Tanaka T, Katsumata N. Nonclassic steroid 21–hydroxylase deficiency due to a homozygous V281L mutation in CYP21A2 detected by the neonatal mass–screening program in Japan. Endocrine Journal 54(6): 1021–1025, 2007.
Abe A, Hiraoka M, Shayman JA. A role for lysosomal phospholipase A2 in drug induced phospholipidosis. Drug Metabolism Letters 1(1): 49–53, 2007.
Abe A, Hiraoka M, Shayman JA. The acylation of lipophilic alcohols by lysosomal phospholipase A2. Journal of Lipid Resarch 48(10): 2255–2263, 2007.
Katsumata N. Cholesterol side–chain cleavage enzyme (SCC) deficiency. Clinical Pediatric Endocrinology 16(3): 63–69, 2007.
2006
Wada Y, Okada M, Fukami M, Sasagawa I, Ogata T. Association of cryptorchidism with Gly146Ala polymorphism in the gene for steroidogenic factor–1. Fertility and Sterility 85(3): 787–790, 2006.
Fukami M, Hasegawa T, Horikawa R, Ohashi T, Nishimura G, Homma K, Ogata T. Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21–hydroxylase deficiency and/or aromatase deficiency: diagnostic value of urine steroid hormone analysis. Pediatric Research 59(2): 276–280, 2006.
Fukami M, Kato F, Tajima T, Yokoya S, Ogata T. Transactivation function of an approximately 800–bp evolutionarily conserved sequence at the SHOX 3' region: implication for the downstream enhancer. American Journal of Human Genetics 78(1): 167–170, 2006.
Sato N, Ohyama K, Fukami M, Okada M, Ogata T. Kallmann syndrome: somatic and germline mutations of the fibroblast growth factor receptor 1 gene in a mother and the son. The Journal of Clinical Endocrinology and Metabolism 91(4): 1415–1418, 2006.
Goto M, Nishimura G, Nagai T, Yamazawa K, Ogata T. Familial Klippel–Feil anomaly and t(5;8)(q35.1;p21.1) translocation. American Journal of Medical Genetics A 140(9): 1013–1015, 2006.
Homma K, Hasegawa T, Nagai T, Adachi M, Horikawa R, Fujiwara I, Tajima T, Takeda R, Fukami M, Ogata T. Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency: implication for the backdoor pathway to dihydrotestosterone. The Journal of Clinical Endocrinology and Metabolism 91(7): 2643–2649, 2006.
Nagai T, Obata K, Ogata T, Murakami N, Katada Y, Yoshino N, Sakazume S, Tomita Y, Niikawa N. Growth hormone therapy and scoliosis in patients with Prader–Willi syndrome. American Journal of Medical Genetics A 140(15): 1623–1627, 2006.
Ogata T, Udaka T, Fujiwara I, Ogawa E, Sato N, Kosaki K. Kallmann syndrome phenotype in a female patient with CHARGE syndrome and CHD7 mutation. Endocrine Journal 53(6): 741–743, 2006.
Yamazawa K, Wada Y, Sasagawa I, Aoki K, Ueoka K, Ogata T. Mutation and polymorphism analyses of INSL3 and LGR8/GREAT in 62 Japanese patients with cryptorchidism. Hormone Research 67(2): 73–76, 2006.
Sakai H, Visser R, Ikegawa S, Ito E, Numabe H, Watanabe Y, Mikami H, Kondoh T, Kitoh H, Sugiyama R, Okamoto N, Ogata T, Fodde R, Mizuno S, Takamura K, Egashira M, Sasaki N, Watanabe S, Nishimaki S, Takada F, Nagai T, Okada Y, Aoka Y, Yasuda K, Iwasa M, Kogaki S, Harada N, Mizuguchi T, Matsumoto N. Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan–related phenotypes. Americam Journal of Medical Geneteics A 140(16): 1719–1725, 2006.
Kohda E, Yamazaki H, Hisazumi H, Tutumi Y, Ogata T, Shiraga N. Imaging of congenital lipoid adrenal hyperplasia. Radiation Medicine 24(3): 217–219, 2006.
Hirose Y, Nakashima E, Ohashi H, Mochizuki H, Bando Y, Ogata T, Adachi M, Toba E, Nishimura G, Ikegawa S. Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage–hair hypoplasia. Journal of Human Gneteics 51(8): 706–10, 2006.
Fukami M, Wada Y, Miyabayashi K, Nishino I, Hasegawa T, Camerino G, Kretz C, Buj–Bello A, Laporte J, Yamada G, Morohashi K, Ogata T. CXorf6 is a causative gene for hypospadias. Nature Genetics 38(12): 1369–1371, 2006.
Kagami–Takasugi M, Katsumata N, Tanaka T, Tajima T, Fujieda K. Molecular genetic analysis of MODY candidate genes in Japanese patients with non–obese juvenile onset diabetes mellitus. The Journal of Pediatric Endocrinology and Metabolism 19(2): 143–148, 2006.
Katsumata N, Horikawa R, Tanaka T. Replacement of alanine with asparagic acid at position 203 in human steroidogenic acute regulatory protein impairs the ability to enhance steroidogenesis in vitro. Endocrine Journal 53(3): 427–431, 2006.
Saito T, Tachibana K, Shimatsu A, Katsumata N, Hizuka N, Fujieda K, Yokoya S, Tanaka T. Standardization of blood growth hormone levels measured by different kits using a linear structural relationship. Clinical Pediatric Endocrinology 15(3): 79–84, 2006.
Al Kandari H, Katsumata N, Alexander S, Rasoul MA. Homozygous mutation of P450 side–chain cleavage enzyme gene (CYP11A1) in 46, XY patient with adrenal insufficiency, complete sex reversal, and agenesis of corpus callosum. The Journal of Clinical Endocrinology and Metabolism 91(8): 2821–2826, 2006.
Hayakawa K, Guo L, Terentyeva EA, Li XK, Kimura H, Hirano M, Yoshikawa K, Nagamine T, Katsumata N, Ogata T, Tanaka T. Determination of specific activities and kinetic constants of biotinidase and lipoamidase in LEW rat and Lactobacillus casei (Shirota). Journal of Chromatography B, Analytical Technologies in the Biomedical and Life Sciences 844(2): 240–250, 2006.
Ogata T. Genetics of human growth. Clinical Pediatric Endocrinology 15(2): 45–53, 2006.
Ogata T, Fukami M. Clinical lessons from SHOX mutation research. International Growth Monitor 16(1): 2–6, 2006.
Goto M, Nishimura G, Nagai T, Yamazawa K, Ogata T. Familial Klippel–Feil anomaly and t(5;8)(q35.1;p21.1) translocation. American Journal of Medical Genetics A 140(9): 1013–1015, 2006.
Wada Y, Okada M, Fukami M, Sasagawa I, Ogata T. Association of cryptorchidism with Gly146Ala polymorphism in the gene for steroidogenic factor–1. Fertility and Sterility 85(3): 787–790, 2006.
2005
Fukami M, Horikawa R, Nagai T, Tanaka T, Naiki Y, Sato N, Okuyama T, Nakai H, Soneda S, Tachibana K, Matsuo N, Sato S, Homma K, Nishimura G, Hasegawa T, Ogata T. Cytochrome P450 oxidoreductase gene mutations and Antley–Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients. The Journal of Clinical Endocrinology and Metabolism 90(1): 414–426, 2005.
Morii T, Ohno Y, Horese H, Kawabe H, Ogata T, Hirano K, Eguchi T, Mruyama T, Kanno Y, Hayashu M, Saito I, Saruta T. Cellular insulin resistance in Epstein–Barr virus–transformed lymphoblasts from young insulin–resistant Japanese men. Metabolism 54(3): 370–375, 2005.
Soneda S, Fukami M, Matsuo N, Hssegawa T, Fujimoto M, Koitabashi Y, Ogata T. Association of micropenis with Pro185Ala polymorphism of the gene for aryl hydrocarbon receptor repressor involved in dioxin signaling. Endocrine Journal 52(1): 83–88, 2005.
Yoshida R, Fukami M, Sasagawa I, Hasegawa T, Kamatani N, Ogata T. Association of cryptorchidism with a specific haplotype of the estrogen receptor alpha gene: implication for the susceptibility to estrogenic environmental endocrine disruptors. The Journal of Clinical Endocrinology and Metabolism 90(8): 4716–4721, 2005.
Matsubara K, Yabe H, Ogata T, Yoshida R, Fukuya T. Acute myeloid leukemia in an adult Noonan syndrome patient with PTPN11 mutation. American Journal of Hematology 79(2): 171–172, 2005.
Fukami M, Okuyama T, Yamamori S, Nishimura G, Ogata T. Microdeletion in the SHOX 3' region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri–Weill dyschondrosteosis in her 46,XX mother: implication for the SHOX enhancer. American Journal of Medical Genetics A 137(1): 72–76, 2005.
Sato N, Hasegawa T, Hori N, Fukami M, Yoshimura Y, Ogata T. Gonadotrophin therapy in Kallmann syndrome caused by heterozygous mutations of the gene for fibroblast growth factor receptor 1: report of three families: case report. Human Reproduction 20(8): 2173–2178, 2005.
Morleo M, Pramparo T, Perone L, Gregato G, Le Caignec C, Mueller R, Ogata T, Raas–Rothshild A, Christine de Blois M, Wilson L, Zaidman G, Zuffardi O, Ballabio A, Franco B. Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 cases. American Journal of Medical Genetics A 137(2): 190–198, 2005.
Kagami M, Nishimura G, Okuyama T, Hayashidani M, Takeuchi T, Tanaka S, Ishino F, Kurosawa K, Ogata T. Segmental and full paternal isodisomy for chromosome 14 in three patients: narrowing the critical region and implication for the clinical features. American Journal of Medical Genetics A 138(2): 127–132, 2005.
Wada Y, Okada M, Hasegawa T, Ogata T. Association of severe micropenis with Gly146Ala polymorphism in the gene for steroidogenic factor–1. Endocrine Journal 52(4): 445–448, 2005.
Liu S, Ogata T, Maruyama T, Yoshimura Y, Ishizuka B. Association of common LH variant with hyperfunctional promoter in a Japanese infertile woman. Endocrine Journal 52(6): 781–784, 2005.
Ogata T, Yoshida R. PTPN11 mutations and genotype–phenotype correlations in Noonan and LEOPARD syndromes. Pediatric Endocrinology Reviews 2(4): 669–674, 2005.
2004
Sato N, Katsumata N, Kagami M, Hasegawa T, Hori N, Kawakita S, Minowada S, Shimotsuka A, Shishiba Y, Yokozawa M, Yasuda T, Nagasaki K, Hasegawa D, Hasegawa Y, Tchibana K, Naiki Y, Horikawa R, Tanaka T, Ogata T. Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients. The Journal of Clinical Endocrinology and Metabolism 89(3): 1079–1088, 2004.
Fukami M, Nishi Y, Hasegawa Y, Miyoshi Y, Okabe T, Haga N, Nagai T, Tanaka T, Ogata T. Statural growth in 31 Japanese patients with SHOX haploinsufficiency: support for a disadvantageous effect of gonadal estrogens. Endocrine Journal 51(2): 197–200, 2004.
Kosaki K, Sato S, Hasegawa T, Matsuo N, Suzuki T, Ogata T. Premature ovarian failure in a female with proximal symphalangism and Noggin mutation. Fertility and Sterility 81(4): 1137–1139, 2004.
Komada F, Sekine T, Inatomi J, Enomoto A, Endou H, Ota T, Matsuyama T, Ogata T, Ikeda M, Awazu M, Muroya K, Kmimaki I, Igarashi T. The W258X mutation in SLC22A12 is the predominant cause of Japanese renal hypouricemia. Pediatric Nephrology 19(7): 728–733, 2004.
Fujimoto Y, Okuyama T, Iijima M, Tanaka T, Horikawa R, Yamada K, Ogata T. Genitourinary phenotype in XX patients with distal 9p monosomy. Molecular Genetics and Metabolism 82(2): 173–179, 2004.
Yoshida R, Miyata M, Nagai T, Yamazaki T, Ogata T. A 3–bp deletion mutation of PTPN11 in an infant with severe Noonan syndrome including hydrops fetalis and juvenile myelomonocytic leukemia. American Journal of Medical Genetics 128A(1): 63–66, 2004.
Ishii T, Sasaki G, Sasaki R, Sato S, Matsuo N, Hasegawa T, Ogata T. Testosterone enanthate therapy is effective and independent of SRD5A2 and AR gene polymorphisms in boys with micropenis. Journal of Urology 172(1): 319–324, 2004.
Shiihara T, Kato M, Kimura T, Hayasaka K, Yamamori S, Ogata T. Craniosynostosis with extra copy of MSX2 in a patient with partial 5q–trisomy. American Journal of Medical Genetics A 128(2): 214–216, 2004.
Yoshida R, Hasegawa T, Hasegawa Y, Nagai T, Kinoshita E, Tanaka Y, Kanegane H, Ohyama K, Onishi T, Hanew k, Okuyama T, Horikawa R, Tanaka T, Ogata T. Protein–tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome. The Journal of Clinical Endocrinology and Metabolism 89(7): 3359–3364, 2004.
Watanabe M, Sueoka K, Sasagawa I, Nakabayashi A, Yoshimura Y, Ogata T. Association of male infertility with Pro185Ala polymorphism in the aryl hydrocarbon receptor repressor gene: implication for the susceptibility to dioxins. Fertility and Sterility 82(3): 1067–1071, 2004.
Yoshida R, Nagai T, Hasegawa T, Kinoshita E, Tanaka T, Ogata T. Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome. American Journal of Medical Genetics A 130(4): 432–434, 2004.
Hasegawa T, Fukami M, Sato N, Sasaki G, Fukutani K, Morohashi K, Ogata T. Testicular dysgenesis without adrenal insufficiency in a 46,XY patient with a heterozygous inactive mutation of steroidogenic factor–1. The Journal of Clinical Endocrinology and Metabolism 89(12): 5930–5935, 2004.
Ogata T, Fukami M. Clinical features in SHOX haploinsufficiency: diagnostic and therapeutic implications. Growth, Genetics & Hormones 20(2): 17–23, 2004.
2003
Nakabayashi A, Sueoka K, Matsuda N, Asada H, Tanigaki R, Sato K, Tajima H, Ogata T, Kuji N, Yoshimura Y. Incidental deviation of short and long CAG repeats in the androgen receptor gene for Japanese male infertility. Reproductive Medicine and Biology 2(4): 145–150, 2003.
Fukami M, Matsuo N, Hasegawa T, Sato S, Ogata T. Longitudinal auxological study in a female with SHOX (short stature homeobox containing gene) haploinsufficiency and normal ovarian function. European Journal of Endocrinology 149(4): 337–341, 2003.
Kurotaki N, Harada N, Shimokawa O, Miyake, N, Kawame H, Uetake K, Makita Y, Kondoh T, Ogata T, Hasegawa T, Nagai T, Ozaki T, Touyama M, Shenhav R, Ohashi H, Medne L, Shiihara T, Ohtsu S, Kato Z, Okamoto N, Nishimoto J, Lev D, Miyoshi Y, Ishikiriyama S, Sonoda T, Sakazume S, Fukushima Y, Kurosawa K, Cheng J–F, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion. Human Mutation 22(5): 378–387, 2003.
Sasaki G, Ogata T, Ishii T, Kosaki K, Hasegawa T, Sato S, Homma K, Takahashi T, Matsuo N. Micropenis and the 5alpha–reductase–2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients. Journal of Clinical Endocrinology and Metabolism 88(7): 3431–3436, 2003.
Ogata T, Sato S, Hasegawa Y, Kosaki K. Lymphstasis in a boy with Noonan syndrome: implication for the development of skeletal features. Endocrine Journal 50(3): 319–324, 2003.
Sasaki R, Inamo Y, Saitoh M, Hasegawa T, Kinoshita E, Ogata T. Mental retardation in a boy with congenital adrenal hypoplasia: a clue to contiguous gene syndrome involving DAX1 and IL1RAPL. Endocrine Journal 50(3): 303–307, 2003.
Nagai T, Matsumoto N, Kurotaki N, Harada N, Niikawa N, Ogata T, Imaizumi K, Kurosawa K, Kondoh T, Ohashi H, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Yokoyama T, Uetake K, Sakazune S, Fukushima Y, Naritomi K. Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions. The Journal of Medical Genetics 40(4): 285–289, 2003.
Sasaki G, Nakagawa K, Hshiguchi A, Hasegawa T, Ogata T, Murai M. Giant seminoma in a patient with 5 alpha–reductase type 2 deficiency. The Journal of Urology 169(3): 1080–1081, 2003.
Ishikawa M, Satou N, Kikuchi T, Uchiyama M, Katsumata N, Tanaka T. Serum levels of 20–kilodalton human growth hormone (GH) in children with simple obesity. Clinical Pediatric Endocrinology 12(1): 49–56, 2003.
Hayakawa K, Guo L, Terentyeva EA, Li KK, Kimura H, Hirano M, Yoshikawa K, Yoshinaga T, Nagamine T, Katsumata N, Tanaka T. Size–exclusion chromatography of biological samples which contain extremely alkaline proteins. Journal of Biochemical and Biophysical Methods 56(1–3): 153–163, 2003.
Tanaka N, Katsumata N, Horikawa R, Tanaka T. The comparison of the effects of short–term growth hormone treatment in patients with achondroplasia and with hypochondroplasia. Endocrine Journal, 50(1): 69–75, 2003.
2002
Kubota T, Wakui K, Nakamura T, Ohashi H, Watanabe Y, Yoshino M, Kida T, Okamoto N, Matsumura M, Muroya K, Ogata T, Goto Y, Fukushima Y. The proportion of cells with functional X disomy is associated with the severity of mental retardation in mosaic ring X Turner syndrome females. Cytogenetics and Genome Research 99(1–4): 276–84, 2002.
Suzuki Y, Sasagawa I, Itoh K, Ashida J, Muroya K, Ogata T. Estrogen receptor alpha gene polymorphism is associated with idiopathic azoospermia. Fertility and Sterility 78(6): 1341–1343, 2002.
Kitamura K, Yanazawa M, Sugiyama N, Miura H, Iizuka–Kogo A, Kusaka M, Omichi K, Suzuki R, Kato–Fukui Y, Kamiirisa K, Matsuo M, Kamijo S, Kasahara M, Yoshioka H, Ogata T, Fukuda T, Kondo I, Kato M, Dobyns WB, Yokoyama M, Morohashi K. Mutation of ARX causes abnormal development of forebrain and testes in mice and X–linked lissencephaly with abnormal genitalia in humans. Nature Genetics 32(3): 359–369, 2002.
Kosaki K, Suzuki T, Muroya K, Hesegawa T, Sato S, Mastuo N, Kosaki R, Nagai T, Hasegawa Y, Ogata T. PTPN11 (protein–tyrosine phosphatase, nonreceptor–type 11) mutations in seven Japanese patients with Noonan syndrome. The Journal of Clinical Endocrinology and Metabolism 87(8): 3529–3533, 2002.
Ogata T, Inokuchi M, Ogawa M. Growth pattern and body proportion in a female with short stature homeobox–containing gene overdosage and gonadal estrogen deficiency. European Journal of Endocrinology 147(2): 249–254, 2002.
Suzuki Y, Sasagawa I, Itoh K, Ashida J, Ogata T. 5Alpha–reductase type 2 genes in Japanese males do not appear to be associated with cryptorchidism. Fertility and Sterility 78(2): 330–334, 2002.
Sasaki G, Ogata T, Ishii T, Hasegawa T, Sato S, Matsuo N. Novel mutation of TBX3 in a Japanese family with ulnar–mammary syndrome: implication for impaired sex development. American Journal of Medical Genetics A 110(4): 365–369, 2002.
Muroya K, Yamamoto K, Fukushima Y, Ogata T. Ring chromosome 21 in a boy and a derivative chromosome 21 in the mother: implication for ring chromosome formation. American Journal of Medical Genetics A 110(4): 332–337, 2002.
Itoh K, Sasagawa I, Suzuki Y, Ashida J, Nakada T, Ogata T. Mutation screening for the 5alpha–reductase type 2 gene in Japanese men with idiopathic azoospermia. Fertility and Sterility 77(5): 1079–1080, 2002.
Kosaki K, Ogata T, Kosaki R, Sato S, Matsuo N. A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: differential role of the polyalanine tract in the development of the ovary and the eyelid. Ophthalmic Genetics 23(1): 43–47, 2002.
Rappold GA, Fukami M, Niesler B, Schiller S, Zumkeller W, Bettendorf M, Heinrich U, Vlachopapadoupoulou E, Reinehr T, Onigata K, Ogata T. Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature. The Journal of Clinical Endocrinology and Metabolism 87(3): 1402–1406, 2002.
Ogata T, Muroya K, Sasaki G, Nishimura G, Kitoh H, Hattori T. SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features. The Journal of Clinical Endocrinology and Metabolism 87(3): 1390–1394, 2002.
Muroya K, Nishimura G, Douya H, Hasegawa T, Ogata T. Diaphyseal medullary stenosis with malignant fibrous histiocytoma: further evidence for loss of heterozygosity involving 9p21–22 in tumor tissue. Genes Chromosomes and Cancer 33(3): 326–328, 2002.
Kosho T, Uemura T, Tanimura M, Ohashi H, Muroya K, Ogata T. Refined mapping of the gene for otopalatodigital syndrome type I. Journal of Medical Genetics 39(2): Electric Letter 7, 2002.
Fujita H, Kosaki R, Yoshihashi H, Ogata T, Tomita M, Takahashi T, Matsuo N, Kosaki K. Characterization of the aryl hydrocarbon receptor repressor gene and association of its Pro185Ala polymorphism with micropenis. Teratology 65(1): 10–18, 2002.
Nimura A, Katsumata N, Yamauchi S, Tanaka T. Serum levels of free insulin–like growth factor (IGF)–Ⅰ in normal children; relation to total IGF–Ⅰ, IGF binding protein (IGFBP)–1, IGFBP–3, and acid labile subunit (ALS). Clinical Pediatric Endocrinology 11(Suppl. 17): 45–46, 2002.
Katsumata N, Ohtake M, Hojo T, Ogawa E, Hara T, Sato N, Tanaka T. Compound heterozygous mutations in the cholesterol side–chain cleavage enzyme gene (CYP11A) cause congenital adrenal insufficiency in humans. The Journal of Clinical Endocrinology and Metabolism 87(8): 3808–3813, 2002.
Takahashi S, Minowada S, Tomita K, Katsumata N, Tanaka T, Kitamura T. Massive adrenocortical adenoma following long–term treatment of 21–hydroxylase deficiency. The Journal of Urology 167(3): 1391–1392, 2002.
Katsumata N, Hirose H, Kagami M, Tanaka T. Analysis of the AAAS gene in a Japanese patient with triple A syndrome. Endocrine Journal 49(1): 49–53, 2002.
2001
Yoshizawa A, Ogata T, Yokoya S. Mental retardation in a Turner girl with an active ring X chromosome missing XIST. Clinical Pediatric Endocrinology 10(2): 131–135, 2001.
Ogata T, Muroya K, Matsuo N, Shinohara O, Yorifuji T, Nishi Y, Hasegawa Y, Horikawa R, Tachibana K. Turner syndrome and Xp deletions: clinical and molecular studies in 47 patients. The Journal of Clinical Endocrinology and Metabolism 86(11): 5498–5508, 2001.
Ogata T, Matsuo N, Saito M, Fukushima Y, Nose O, Miharu N, Uehara S, Ishizuka B. FISH analysis for apparently simple terminal deletions of the X chromosome: identification of hidden structural abnormalities. American Journal of Medical Genetics A 104(4): 307–311, 2001.
Ogata T, Muroya K, Ohashi H, Mochizuki H, Hasegawa T, Kaji M. Female gonadal development in XX patients with distal 9p monosomy. European Journal of Endocrinology 145(5): 613–617, 2001.
Ishii T, Sato S, Kosaki K, Sasaki G, Muroya K, Ogata T, Matsuo N. Micropenis and the AR Gene: mutation and CAG repeat–length analysis. The Journal of Clinical Endocrinology and Metabolism 86(11): 5372–5378, 2001.
Suzuki Y, Sasagawa I, Ashida J, Nakada T, Muroya K, Ogata T. Screening for mutations of the androgen receptor gene in patients with isolated cryptorchidism. Fertility and Sterility 76(4): 834–836, 2001.
Tanaka Y, Sugita K, Saito T, Muroya K, Ishikawa S, Awazu M, Ogata T. Impaired urinary water excretion in a three–generation family. Pediatric Nephrology 16(10): 820–822, 2001.
Boucher CA, Sargent CA, Ogata T, Affara NA. Breakpoint analysis of Turner patients with partial Xp deletions: implications for the lymphoedema gene location. Journal of Medical Genetics 38(9): 591–598, 2001.
Sasagawa I, Suzuki Y, Ashida J, Nakada T, Muroya K, Ogata T. CAG repeat length analysis and mutation screening of the androgen receptor gene in Japanese men with idiopathic azoospermia. Journal of Andrology 22(5): 804–808, 2001.
Kosaki K, Shimazaki N, Fukushima H, Hara M, Ogata T, Matsuo N. Female patient showing hypohidrotic ectodermal dysplasia and immunodeficiency (HED–ID). American Journal of Human Genetics 69(3): 664–665, 2001.
Suzuki Y, Sasagawa I, Tateno T, Ashida J, Nakada T, Muroya K, Ogata T. Mutation screening and CAG repeat length analysis of the androgen receptor gene in Klinefelter's syndrome patients with and without spermatogenesis. Human Reproduction 16(8): 1653–1656, 2001.
Preiss S, Argentaro A, Clayton A, John A, Jans DA, Ogata T, Nagai T, Barroso I, Schafer AJ, Harley VR. Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activation. The Journal of Biological Chemistry 276(30): 27864–27872, 2001.
Ogata T, Muroya K, Ishii T, Suzuki Y, Nakada T, Sasagawa I. Undermasculinized genitalia in a boy with an abnormally expanded CAG repeat length in the androgen receptor gene. Clinical Endocrinology 54(6): 835–838, 2001.
Ogata T, Onigata K, Hotsubo T, Matsuo N, Rappold GA. Growth hormone and gonadotropin–releasing hormone analog therapy in haploinsufficiency of SHOX. Endocrine Journal 48(3): 317–322, 2001.
Muroya K, Hasegawa T, Ito Y, Nagai T, Isotani H, Iwata Y, Yamamoto K, Fujimoto S, Seishu S, Fukushima Y, Hasegawa Y, Ogata T. GATA3 abnormalities and the phenotypic spectrum of HDR syndrome. Journal of Medical Genetics 38(6): 374–380, 2001.
Muroya K, Sasagawa I, Suzuki Y, Nakada T, Ishii T, Ogata T. Hypospadias and the androgen receptor gene: mutation screening and CAG repeat length analysis. Molecular Human Reproduction 7(5): 409–413, 2001.
Ogata T, Matsuo M, Muroya K, Koyama Y, Fukutani K. 47,XXX male: A clinical and molecular study. American Journal of Medical Genetics A 98(4): 353–356, 2001.
Katsumata N, Matsuo S, Sato N, Tanaka T. A novel and de novo splice–donor site mutation in intron 3 of the GH–1 gene in a patient with isolated growth hormone deficiency. Growth Hormone & IGF Research 11(6): 378–383, 2001.
Katsumata N, Satoh M, Mikami A, Mikami S, Nagashima–Miyokawa A, Sato N, Yokoya S, Tanaka T. New compound heterozygous mutation in the CYP17 gene in a 46,XY girl with 17 alpha–hydroxylase/17,20–lyase deficiency. Hormone Research 55(3): 141–146, 2001.
Hayakawa K, Yoshinaga T, Hirano M, Yoshikawa K, Katsumata N, Tanaka T, Nagamine T. Protein determination by high–performance gel–permeation chromatography: applications to human pancreatic juice, human bile and tissue homogenate. Journal of Chromatgraphy B 754(1): 65–76, 2001.
2000
Ogata T, Muroya K, Sasagawa I, Kosho T, Wakui K, Sakazume S, Ito K, Matsuo N, Ohashi H, Nagai T. Genetic evidence for a novel gene(s) involved in urogenital development on 10q26. Kidney International 58(6): 2281–2290, 2000.
Matsuo M, Muroya K, Adachi M, Tachibana K, Asakura Y, Nakagomi Y, Hanaki K, Yokoya S, Yoshizawa A, Igarashi Y, Hanew K, Matsuo N, Ogata T. Clinical and molecular studies in 15 females with ring X chromosomes: implications for r(X) formation and mental development. Human Genetics 107(5): 433–439, 2000.
Matsuo N, Anzo M, Sato S, Ogata T, Kamimaki T. Testicular volume in Japanese boys up to the age of 15 years. European Journal of Pediatrics 159(11): 843–845, 2000.
Sasagawa I, Suzuki Y, Tateno T, Nakada T, Muroya K, Ogata T. CAG repeat length of the androgen receptor gene in Japanese males with cryptorchidism. Molecular Human Reproduction 6(11): 973–975, 2000.
Ikegawa S, Ohashi H, Ogata T, Honda A, Tsukahara M, Kubo T, Kimizuka M, Shimode M, Hasegawa T, Nishimura G, Nakamura Y. Novel and recurrent EBP mutations in X–linked dominant chondrodysplasia punctata. American Journal of Medical Genetics A 94(4): 300–305, 2000.
Muroya K, Okuyama T, Goishi K, Ogiso Y, Fukuda S, Kameyama J, Sato H, Suzuki Y, Terasaki H, Gomyo H, Wakui K, Fukushima Y, Ogata T. Sex–determining gene(s) on distal 9p: clinical and molecular studies in six cases. The Journal of Clinical Endocrinology and Metabolism 85(9): 3094–3100, 2000.
Ishii T, Ogata T, Sasaki G, Sato S, Kinoshita E, Matsuo N. Novel mutations of the ACTH receptor gene in a female adult patient with adrenal unresponsiveness to ACTH. Clinical Endocrinology 53(3): 389–392, 2000.
Ogata T, Matsuo N, Hiraoka N, Hata J. X–linked lissencephaly with ambiguous genitalia: delineation of further case. American Journal of Medical Genetics A 94(2): 174–176, 2000.
Tateno T, Sasagawa I, Yoshida J, Nakada T, Ogata T. Absence of Y chromosome microdeletions involving the DAZ (deleted in azoospermia) and RBM (ribonucleic acid–binding motif) genes in patients with chordee without hypospadias. Archives of Andrology 45(1): 9–12, 2000.
Fukami M, Kirsch S, Schiller S, Richter A, Franco B, Muroya K, Rao E, Merker S, Niesler B, Ballabio A, Ansorge W, Ogata T, Rappold GA. A member of a gene family on Xp22.3, VCX–A, is deleted in patients with X–linked nonspecific mental retardation. American Journal of Human Genetics 67(3): 563–573, 2000.
Ogata T, Kosho T, Wakui K, Fukushima Y, Yoshimoto M, Miharu N. Short stature homeobox–containing gene duplication on the der(X) chromosome in a female with 45,X/46,X, der(X), gonadal dysgenesis, and tall stature. The Journal of Clinical Endocrinology and Metabolism 85(8): 2927–2930, 2000.
Ishii T, Suzuki Y, Ando N, Matsuo N, Ogata T. Novel mutations of the autoimmune regulator gene in two siblings with autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy. The Journal of Clinical Endocrinology and Metabolism 85(8): 2922–2926, 2000.
Kirsch S, Weis B, De Ross M, Ogata T, Lombardi G, Rappold GA. FISH deletion mapping defines a single location for the Y chromosome stature gene, GCY. Journal of Medical Genetics 37(8): 593–599, 2000.
Tateno T, Sasagawa I, Yoshida J, Nakada T, Ogata T. Absence of Y–chromosome microdeletions in patients with isolated hypospadias. Fertility and Sterility 74(2): 399–400, 2000.
Yoshihashi H, Maeyama K, Kosaki R, Ogata T, Tsukahara M, Goto Y, Hata J, Matsuo N, Smith RJ, Kosaki K. Imprinting of human GRB10 and its mutations in two patients with Russell–Silver syndrome. American Journal of Human Genetics 67(2): 476–482, 2000.
Ogata T, Wakui K, Kosho T, Muroya K, Yamanouchi Y, Takano T, Fukushima Y, Rappold G, Suzuki Y. Structural analysis of a rare rearranged Y chromosome and its bearing on genotype–phenotype correlation. American Journal of Medical Genetics A 92(4): 256–259, 2000.
Adachi M, Tachibana K, Asakura Y, Muroya K, Ogata T. Del(X)(p21.1) in a mother and two daughters: genotype–phenotype correlation of Turner features. Human Genetics 106(3): 306–310, 2000.
Matsuo M, Muroya K, Nanao K, Hasegawa Y, Terasaki H, Kosaki K, Ogata T. Mother and daughter with 45,X/46,X,r(X)(p22.3q28) and mental retardation: analysis of the X–inactivation patterns. American Journal of Medical Genetics A 91(4): 267–272, 2000.
Sato N, Ishikawa M, Nimura A, Katsumata N, Horikawa R, Tanae A, Tanaka T, Matuo N, Seino Y, Fujieda K, Yokoya S, Tachibana K, Shimizu N. Study Group of GH Treatment in IUGR: Growth hormone (GH) binding protein in children with intrauterine growth retardation treated with high dose GH. Clinical Pediatric Endocrinology 9(Suppl. 14): 55–61, 2000.
Shinagawa T, Katsumata N, Sato N, Horikawa T, Tanae A, Tanaka. Japanese familial patients with male–limited precocious puberty. Endocrine Journal 47(6): 777–782, 2000.
Ishikawa M, Nimura A, Horikawa R, Katsumata N, Arisaka O, Wada M, Honjo M, Tanaka T. A novel specific bioassay for serum human growth hormone. The Journal of Clinical Endocrinology and Metrabolism 85(11): 4274–4279, 2000.
Tanae A, Katsumata N, Sato N, Horikawa R, Tanaka K. Genetic and endocrinological evaluations of three 46,XX patients with congenital lipoid adrenal hyperplasia previously reported as having presented spontaneous puberty. Endocrine Journal 47(5): 629–634, 2000.
Sato K, Tajima T, Nakae J, Adachi M, Asakura Y, Tachibana K, Suwa S, Katsumata N, Tanaka T, Hayashi Y, Abe S, Murashita M, Okuhara K, Shinohara N, Fujieda K. Three novel PHEX gene mutations in Japanese patients with X–linked hypophosphatemic rickets. Pediatric Research 48(4): 536–540, 2000.
Ishikawa M, Tachibana T, Kamioka T, Horikawa R, Katsumata N, Tanaka T. Comparison of the somatogenic action of 20 kDa– and 22 kDa–human growth hormones in spontaneous dwarf rats. Growth Hormone & IGF Research 10(4): 199–206, 2000.
Kuno T, Fujita I, Miyazaki S, Katsumata N. Markers for bone metabolism in a long–lived case of thanatophoric dysplasia. Endocrine Journal 47(Suppl.): S141–S144, 2000.
Katsumata N, Mikami S, Nagashima–Miyokawa A, Nimura A, Sato N, Horikawa R, Tanae A, Tanaka T. Analysis of the FGFR3 gene in Japanese patients with achondroplasia and hypochondroplasia. Endocrine Journal 47(Suppl.): S121–S124, 2000.
Sato N, Nimura A, Horikawa R, Katsumata N, Tanae A, Tanaka T. Bone mineral density in Turner syndrome: relation to GH treatment and estrogen treatment. Endocrine Journal 47(Suppl.): S115–S119, 2000.
Nimura A, Katsumata N, Horikawa R, Tanae A, Tanaka T. Acid–labile subunit (ALS) measurements in children. Endocrine Journal 47(Suppl.): S111–S114, 2000.
Horikawa R, Tachibana T, Katsumata N, Ishikawa H, Tanaka T. Regulation of pituitary growth hormone–secretagogue and growth hormone–releasing hormone receptor RNA expression in young Dwarf rats. Endocrine Journal 47(Suppl.): S53–S56, 2000.
Shima M, Tanae A, Miki K, Katsumata N, Matsumoto S, Nakajima S, Harada T, Shinagawa T, Tanaka T, Okada S. Mechanism for the development of ovarian cysts in patients with congenital lipoid adrenal hyperplasia. European Journal of Endocrinology 142(3): 274–279, 2000.
1999～1995
Kosho T, Muroya K, Nagai T, Fujimoto M, Yokoya S, Sakamoto H, Hirano T, Terasaki H, Ohashi H, Nishimura G, Sato S, Matsuo N, Ogata T. Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome. The Journal of Clinical Endocrinology and Metabolism 84(12): 4613–4621, 1999.
Matsuo M, Muroya K, Kosaki K, Ishii T, Fukushima Y, Anzo M, Ogata T. Random X–inactivation in a girl with duplication Xp11.21–p21.3: report of a patient and review of the literature. American Journal of Medical Genetics A 86(1): 44–50, 1999.
Yamada S, Tomura H, Nishigori H, Sho K, Mabe H, Iwatani N, Takumi T, Kito Y, Moriya N, Muroya K, Ogata T, Onigata K, Morikawa A, Inoue I, Takeda J. Identification of mutations in the hepatocyte nuclear factor–1alpha gene in Japanese subjects with early–onset NIDDM and functional analysis of the mutant proteins. Diabetes 48(3): 645–648, 1999.
Muroya K, Kosho T, Matsuo M, Ogata T. Female carriers of Xp22.3 deletion including MRX locus. American Journal of Medical Genetics A 84(4): 384–385, 1999.
Muroya K, Kinoshita E, Kamimaki T, Matsuo N, Yorifugi T, Ogata T. Deletion mapping and X inactivation analysis of a non–specific mental retardation gene at Xp21.3–Xp22.11. Journal of Medical Genetics 36(3): 187–191, 1999.
Ishizuka B, Kudo Y, Amemiya A, Yamada H, Matsuda T, Ogata T. Anti–nuclear antibodies in patients with premature ovarian failure. Human Reproduction 14(1): 70–75, 1999.
Muroya K, Ishii T, Nakahori Y, Asakura Y, Tachibana K, Masuno M, Imaizumi K, Tanaka Y, Kawada Y, Yukizane S, Ogata T. Gonadoblastoma, mixed germ cell tumor, and Y chromosomal genotype: molecular analysis in four patients. Genes Chromosomes and Cancer 25(1): 40–45, 1999.
Katsumata N, Kawada Y, Yamamoto Y, Noda M, Nimura A, Horikawa R, Tanaka T. A novel compound heterozygous mutation in the steroidogenic acute regulatory protein gene in a patient with congenital lipoid adrenal hyperplasia. The Journal of Clinical Endocrinology and Metabolism 84(11): 3983–3987, 1999.
Yokouchi K, Horikawa R, Katsumata N, Ikema S, Yamazaki H, Tanaka T, Tanae A. A case with isolated growth hormone deficiency (IGHD) type 1A. Clinical Pediatric Endocrinology 8(Suppl. 12): 115–118, 1999.
Satoh–Ohnami N, Katsumata N, Honjo S, Horikawa R, Tanae A, Satoh M, Tanaka T. Comparison of bone age estimation methods with a new computer–assisted system and the TW2 method. Clinical Pediatric Endocrinology 8(Suppl. 12): 71–74, 1999.
Hayakawa K, Hirano M, Yoshikawa K, Katsumata N, Tanaka T. Separation of phenylthiohydantoin–amino acids by temperature–controlled reversed–phase high–performance liquid chromatography. Journal of Chromatgraphy A 846(1–2): 73–82, 1999.
Yamamoto Y, Katsumata N, Koga J, Tanaka T. Selective amplification of exons 3 and 8 of the human growth hormone receptor (hGHR) gene based on newly identified intron sequences. Endocrine Journal, 46: 415–419, 1999
Tanaka T, Satoh M, Yasunaga T, Horikawa R, Tanae A, Katsumata N, Tachibana K, Nose O, Hibi I. When and how to combine growth hormone with a luteinizing hormone–releasing hormone analogue. Acta Paediatrica 88(Suppl. 428): 85–88, 1999.
Sasaki G, Ogata T, Sato S, Hasegawa Y, Matsuo N. Normally sustained growth in a boy with panhypopituitarism: a case report. Clinical Pediatric Endocrinology 7(2): 93–98, 1998.
Ogata T, Hasegawa T, Tamai S, Sato S, Hasegawa Y, Matsuo N. Hypergonadotropic hypogonadism in a 3–year–old girl with blepharophimosis, ptosis, and epicanthus inversus syndrome. Hormone Research 50(3): 190–192, 1998.
Guioli S, Schmitt K, Critcher R, Bouzyk M, Spurr NK, Ogata T, Hoo JJ, Pinsky L, Gimelli G, Pasztor L, Goodfellow P. Molecular analysis of 9p deletions associated with XY sex reversal: refining the localization of a sex–determining gene to the tip of the chromosome. American Journal of Human Genetics 63(3): 905–908, 1998.
Ogata T, Muroya K, Tsukahara M. Noonan syndrome: genotype analysis of the Noonan syndrome critical region at chromosome 12q in a three–generation family. American Journal of Medical Genetics A 79(2): 153–154, 1998.
Ohro Y, Suzuki Y, Tsutsumi Y, Ogata T. Female external genitalia, absent uterus, and probable agonadism in a 46,XY infant with bilateral upper amelia. Clinical Genetics 54(1): 52–55, 1998.
Ogata T, Wakui K, Muroya K, Ohashi H, Matsuo N, Brown DM, Ishii T, Fukushima Y. Microphthalmia with linear skin defects syndrome in a mosaic female infant with monosomy for the Xp22 region: molecular analysis of the Xp22 breakpoint and the X–inactivation pattern. Human Genetics 103(1): 51–56, 1998.
Nimura A, Horikawa R, Katsumata N, Tanae A, Tanaka T. Bone mineral density in patients with gonadal dysgenesis. Clinical Pediatric Endocrinology 7(Suppl. 11): 113–115, 1998.
Satoh M, Yokoya S, Hashiguchi R, Katsumata N. Long term follow–up of a 46,XY phenotypic girl with 17alpha–hydroxylase deficiency treated with alternate–day dexamethasone. Endocrine Journal 45(3): 285–290, 1998.
Yasunaga N, Furukawa S, Katsumata N, Horikawa R, Tanaka T, Tanae A, Hibi I. Nutrition related hormonal changes in obese children. Endocrine Journal 45(2): 221–227, 1998.
Katsumata N, Kuno T, Miyazaki S, Shoko M, Nagashima–Miyokawa A, Horikawa R, Tanaka T. G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasia. Endocrine Journal 45(Suppl.): S171–S174, 1998.
Horikawa R, Tanaka T, Katsumata N, Tanae A. The regulatory effect of growth hormone on growth hormone–binding protein in human serum. Endocrine Journal 45(Suppl.): S113–S115, 1998.
Katsumata N, Tanae A, Shinagawa T, Nagashima–Miyokawa A, Shimizu M, Yasunaga T, Tanaka T, Hibi I. Novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia. Human Mutation Suppl. 1: S304–S307, 1998.
De Rosa M, De Brasi D, Zarrilli S, Paesano L, Ptvonello R, D'Agostino A, Longobardi S, Merola B, Lupoli G, Ogata T, Lombardi G. Short stature and azoospermia in a patient with Y chromosome long arm deletion. Journal of Endocrinological Investigation 20 (10): 623–628, 1997.
Sakura N, Nishimura S, Matsumoto T, Ohsaki M, Ogata T. Allergic disease as an association of steroid sulphatase deficiency. Journal of Inherited Metabolic Disease 20(6): 807–810, 1997.
Watanabe Y, Yano S, Koga Y, Yukizane S, Nishiyori A, Yoshino M, Kato H, Ogata T, Adachi M. P1148A in fibrillin–1 is not a mutation leading to Shprintzen–Goldberg syndrome. Human Mutation 10(4): 326–327, 1997.
Ishizuka B, Kudo Y, Amemiya A, Ogata T. Ovulation induction in a woman with premature ovarian failure resulting from a partial deletion of the X chromosome long arm, 46,X,del(X)(q22). Fertility and Sterility 68(5): 931–934, 1997.
Ogata T, Matsuo N. The Y specific growth gene(s): how does it promote stature? Journal of Medical Genetics 34(4): 323–325, 1997.
Rao E, Weiss B, Fukami M, Rump A, Niesler B, Mertz A, Muroya K, Binder G, Kirsch S, Winkelmann M, Nordsiek G, Heinrich U, Breuning MH, Ranke MB, Rosenthal A, Ogata T, Rappold GA. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nature Genetics 16(1): 54–63, 1997.
Aya M, Ogata T, Sakaguchi A, Sato S, Matsuo N. Testicular histopathology in congenital lipoid adrenal hyperplasia: a light and electron microscopic study. Hormone Research 47(3): 121–125, 1997.
Rao E, Weiss B, Fukami M, Mertz A, Meder J, Ogata T, Heinrich U, Garcia–Heras J, Schiebel K, Rappold GA. FISH–deletion mapping defines a 270–kb short stature critical interval in the pseudoautosomal region PAR1 on human sex chromosomes. Human Genetics 100(2): 236–239, 1997.
Ogata T, Muroya K, Matsuo N, Fukushima Y, Suzuki Y. Impaired male sex development in an infant with molecularly defined partial 9p monosomy: implication for a testis forming gene(s) on 9p. Journal of Medical Genetics 34(4): 331–334, 1997.
Ogata T, Hasegawa T, Matsuo N. Further clinical model for the possible impairment of a putative lymphogenic gene(s) for Turner stigmata. Human Genetics 99(2): 290, 1997.
Kitanaka S, Katsumata N, Tanae A, Hibi I, Takeyama K, Fuse H, Kato S, Tanaka T. A new compound heterozygous mutation in the 11 beta–hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess. The Journal of Clinical Endcrinology and Metabolism 82: 4054–4058, 1997.
Katsumata N, Tanae A, Shinagawa T, Nagashima–Miyokawa A, Shimizu M, Yasunaga T, Tanaka T, Hibi I. A novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital adrenal lipoid hyperplasia. Hum Mut, Mutation in Brief#111, On–line, 1997.
Nimura A, Ikema S, Goto M, Ishikawa M, Kitanaka S, Katsumata N, Tanae A, Hibi I, Tanaka T. Bone mineral density in children with GH deficiency. Clinical Pediatric Endocrinology 6(Suppl. 9): 95–98, 1997.
Hayakawa K, Masuko M, Mineta M, Yoshikawa K, Yamauchi K, Hirano M, Katsumata N, Tanaka T. Serum protein determination by high–performance gel–permeation chromatography. Journal of Chromatography B 696(1): 19–23, 1997.
Katsumata N, Tanae A, Shinagawa T, Nagashima–Miyokawa A, Shimizu M, Yasunaga T, Tanaka T, Hibi I. Detection of the missense mutation A218V in the steroidogenic acute regulatory protein gene of a Japanese patient with congenital lipoid adrenal hyperplasia. Clinical Pediatric Endocrinology 6(Suppl. 9): 33–37, 1997.
Katsumata N, Tanae A, Shinagawa T, Nagashima–Miyokawa A, Shimizu M, Yasunaga T, Tanaka T, Hibi I. Homozygous Q258X mutation in the steroidogenic acute regulatory gene in a Japanese patient with congenital lipoid adrenal hyperplasia. Endocrine Journal 44(3): 441–446, 1997.
Zimering MB, Katsumata N, Friesen HG, Eng J, Riley DJ, Thakker–Varia S, Marx SJ, Ezzat S. Fibroblast growth factor–like autoantibodies in plasma from patients with multiple endocrine neoplasia type 1 and prolactinoma. Annals of the New York Academy of Science 815: 520–523, 1997.
Terentyeva EA, Hayakawa K, Tanae A, Katsumata N, Tanaka T, Hibi I. Urinary biotinidase and alanine excretion in patients with insulin–dependent diabetes mellitus. European Journal of Clinical Chemistry and Clinical Biochemistry 35(1): 21–24, 1997.
Matsuo S, Tokunaga Y, Kizaki Z, Inoue F, Kinugasa A, Sawada T, Ogata T, Hasegawa Y. A case of XYY syndrome with short stature. Endocrine Journal 43(Suppl.): S137–S139, 1996.
Nishimura G, Sato S, Ogata T, Tamai S, Hasegawa T, Matsuo N. A case of skeletal dysplasia with advanced carpal ossification and "monkey wrench" appearance of the femora: mild Desbuquois dysplasia? European Journal of Pediatrics 155(12): 1040–1042, 1996.
Muroya K, Ogata T, Matsuo N, Nagai T, Franco B, Ballabio A, Rappold G, Fukushima Y. Mental retardation in a boy with an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1: implication for the MRX locus. American Journal of Medical Genetics A 64(4): 583–587, 1996.
Hasegawa T, Ogata T, Hasegawa Y, Honda M, Nagai T, Fukushima Y, Matsuo N. Coarctation of the aorta and renal hypoplasia in a boy with Turner/Noonan surface anomalies and a 46,XY karyotype: a clinical model for the possible impairment of a putative lymphogenic gene(s) for Turner somatic stigmata. Human Genetics 97(5): 564–567, 1996.
Yasunaga T, Horikawa R, Tanaka T, Katsumata N, Tanae A, Hibi I. Serum Growth–Hormone–Binding Protein and Growth during Treatment of Children with Hyperthyroidism and Hypotyroidism. Clinical Pediatric Endocrinology 5(1): 37–44, 1996.
Yasunaga T, Tanaka T, Katsumata N, Tanae A, Hibi I. Diurnal variation of serum insulin–like growth factor binding protein–1 in three boys and fasting fasting insulin–like growth factor binding protein–1 levels in normal children. Clinical Pediatric Endocrinology 5(Suppl. 8): 99–102, 1996.
Ishikawa M, Ishikawa N, Kitanaka S, Yasunaga T, Katsumata N, Tanaka T, Tanae A, Hibi I. Case report on a boy with hyperthyroidism due to inappropriate secretion of thyrotropin. Clinical Pediatric Endocrinology 5(Suppl. 7): 74–75, 1996.
Ishikawa N, Ishikawa M, Kitanaka S, Tanae A, Hibi I, Yasunaga T, Katsumata N, Tanaka T. Analysis of height velocity in twenty girls with premature thelarche. Clin Pediatr. Clinical Pediatric Endocrinology 5(Suppl. 7): 48–51, 1996.
Yoshikawa K, Hayakawa K, Katsumata N, Tanaka T, Kimura T, Yamauchi K. High–performance liquid chromatographic determination of lipoamidase (lipoyl–X hydrolase) activity with a novel substrate, lipoyl–6–aminoquinoline. Journal of Chromatography B 679(1–2): 41–47, 1996.
Ogata T, Yoshizawa A, Muroya K, Matsuo N, Fukushima Y, Yokoya S. Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS15: further evidence for the assignment of the critical region for a pseudoautosomal growth gene(s). Journal of Medical Genetics 32(10): 831–834, 1995.
Ogata T, Tomita K, Hida A, Matsuo N, Nakahori Y, Nakagome Y. Chromosomal localisation of a Y specific growth gene(s). Journal of Medical Genetics 32(7): 572–575, 1995.
Fukami M, Sato S, Ogata T, Matsuo N. Lack of mutations in the P450scc gene in six Japanese patients with congenital lipoid adrenal hyperplasia. Clinical Pediatric Endocrinology 4(1): 39–46, 1995.
Ogata T, Matsuo N. Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features. Human Genetics 95(6): 607–629, 1995.
Muroya K, Ogata T, Rappold G, Klink A, Nakahori Y, Fukushima Y, Aizu K, Matsuo N. Refinement of the locus for X–linked recessive chondrodysplasia punctata. Human Genetics 95(5): 577–580, 1995.
Katsumata N, Yasunaga T, Tanaka T, Tanae A, Hibi I. G to A transition at nucleotide 1,138 of the cDNA of fibroblast growth factor receptor 3 gene in a Japanese girl with achondroplasia. Clinical Pediatric Endocrinology 4(Suppl. 6): 99–101, 1995.
Chakraborty C, Sharma S, Katsumata N, Murphy LJ, Schroedter IC, Robertson MC, Shiu RPC, Friesen HG. Plasma clearance, tissue uptake and expression of pituitary peptide 23/pancreatitis–associated protein in the rat. The Journal of Endocrinology 145(3): 461–469, 1995.
Irie Y, Tatsumi K, Kusuda S, Kawawaki H, Boyages SC, Nose O, Ichiba Y, Katsumata N, Amino N. Screening for PIT1 abnormality by PCR direct sequence method. Thyroid, 5: 207–211, 1995.
Chakraborty C, Katsumata N, Myal Y, Schroedter IC, Brazeau P, Murphy LJ, Shiu RPC, Friesen HG. Age–related changes in peptide–23/pancreatitis–associated protein and pancreatic stone protein/reg gene expression in the rat and regulation by growth hormone–releasing hormone. Endocrinology 136(5): 1843–1849, 1995.
Katsumata N, Tanae A, Yasunaga T, Horikawa R, Tanaka T, Hibi I. A novel missense mutation in the typeⅡ 3β–hydroxysteroid dehydrogenase gene in a family with classical salt–wasting congenital adrenal hyperplasia due to 3β–hydroxysteroid dehydrogenase deficiency. Hum Mol Genet, 4: 745–746, 1995.
Katsumata N, Chakraborty C, Myal Y, Schroedter IC, Murphy LJ, Shiu RPC, Friesen HG. Molecular cloning and expression of peptide 23, a growth hormone–releasing hormone–inducible pituitary protein. Endocrinology 136(4):1332–1339, 1995.
Chakraborty C., Vrontakis M, Molnar P, Schroedtler IC, Katsumata N, Murphy LJ, Shiu RPC, Friesen HG. Expression of pituitary peptide 23 in the rat uterus: regulation by estradiol. Molecular and Cellular Endocrinology 108(1–2): 149–154, 1995.
1994～
Ogata T, Matsuo N. Testis determining gene(s) on the X chromosome short arm: chromosomal localisation and possible role in testis determination. Journal of Medical Genetics 31(4): 349, 1994.
De Felice C, Tanaka T, Hayakawa K, Itoh K, Watanabe T, Katsumata N, Hibi I. Urinary prolactin excretion in children with renal disease. Acta Pediatrica Japonica 36(6): 623–626, 1994.
Zimering MB, Riley DJ, Thakker–Varia S, Walker AM, Lakshminaryan V, Shah R, Brandi ML, Ezzat S, Katsumata N, Friesen HG, Marx SJ, Eng J. Circulating fibroblast growth factor–like autoantibodies in two patients with multiple endocrine neoplasia type 1 and prolactinoma. The Journal of Clinical Endocrinology and Metabolism 79(6): 1546–1552, 1994.
Katsumata N, Tachibana K, Maesaka H, Nakamura K, Suwa S. Adrenarche in childhood: I. Development of a new enzyme–linked immunosorbent assay (ELISA) for dehydroepiandrosterone sulfate (DHEAS) and determination of serum DHEAS levels in normal children. Clinical Pediatric Endocrinology 3(1): 97–104, 1994.
Horikawa R, Tanaka T, Katsumata N, Satoh M, Kokaji M, Kitanaka S, Tanae A, Hibi I. Growth hormone (GH), insulin–like growth factor I (IGF–I), GH–binding protein (GHBP) and nutritional improvement in a girl with deprivation syndrome. Clinical Pediatric Endocrinology 3(Suppl. 5): 173–175, 1994.
Horikawa R, Tanaka T, Katsumata N, Satoh M, Nagashima A, Watanabe T, Kokai Y, Tanae A, Hibi I. Clinical significance of growth hormone–binding protein measurements in children. Proceedings of the Society for Experimental Biology and Medicine 206(3): 320–323, 1994.
Horikawa R, Tanaka T, Kokai Y, Katsumata N, Nagashima A, Satoh M, Tanae A, Hibi I. Growth hormone–binding protein measurements in normal children and children with short stature using ligand–mediated immunofunctional assay. Clinical Pediatric Endocrinology 3(1): 35–43, 1994.
Ogata T, Tyler–Smith C, Purvis–Smith S, Turner G. Chromosomal localisation of a gene(s) for Turner stigmata on Yp. Journal of Medical Genetics 30(11): 918–922, 1993.
Ogata T, Matsuo N. Sex chromosome aberrations and stature: deduction of the principal factors involved in the determination of adult height. Human Genetics 91(6): 551–562, 1993.
Fechner PY, Marcantonio SM, Ogata T, Rosales TO, Smith KD, Goodfellow PN, Migeon CJ, Berkovitz GD. Report of a kindred with X–linked (or autosomal dominant sex–limited) 46,XY partial gonadal dysgenesis. The Journal of Clinical Endocrinology and Metabolism 76(5): 1248–1253, 1993.
Ogata T, Goodfellow P, Petit C, Maroteaux P, Matsuo N. Absent chondrodysplasia punctata in a male with an Xp terminal deletion involving the putative region for CDPX1 locus. American Journal of Medical Genetics A 45(1): 101–104, 1993.
Zimering MB, Katsumata N, Sato Y, Brandi ML, Aurbach GD, Marx SJ, Friesen, HG. Increased basic fibroblast growth factor in plasma from multiple endocrine neoplasia type 1: relation to pituitary tumor. The Journal of Clinical Endocrinology and Metabolism 76(5): 1182–1187, 1993.
Ogata T, Petit C, Rappold G, Matsuo N, Matsumoto T, Goodfellow P. Chromosomal localisation of a pseudoautosomal growth gene(s). Journal of Medical Genetics 29(9): 624–628, 1992.
Ogata T, Matsuo N. Comparison of adult height between patients with XX and XY gonadal dysgenesis: support for a Y specific growth gene(s). Journal of Medical Genetics 29(8): 539–541, 1992.
Ogata T, Goodfellow P, Petit C, Aya M, Matsuo N. Short stature in a girl with a terminal Xp deletion distal to DXYS15: localisation of a growth gene(s) in the pseudoautosomal region. Journal of Medical Genetics 29(7): 455–459, 1992.
Ogata T, Hawkins JR, Taylor A, Matsuo N, Hata J, Goodfellow PN. Sex reversal in a child with a 46,X,Yp+ karyotype: support for the existence of a gene(s), located in distal Xp, involved in testis formation. Journal of Medical Genetics 29(4): 226–230, 1992.
Yamamoto T, Katsumata N, Tachibana K, Friesen HG, NagyGI. Distribution of a novel peptide in the anterior pituitary, gastric pyloric gland, and pancreatic islets of rat. The Journal of Histochemistry and Cytochemistry 40(2): 221–229, 1992.
Ogata T, Matsuo N, Nishimura G, Hajikano H. Oto–palato–digital syndrome, type II: evidence for defective intramembranous ossification. American Journal of Medical Genetics A 36(2): 226–231, 1990.
Ogata T, Matsuo N, Shimizu N. A ring X chromosome, 46,Y,r(X)(p22.33q28), as a cause of extreme short stature in a male. American Journal of Medical Genetics A 35(2): 241–244, 1990.
Murphy PR, Katsumata N, Sato Y, Too CKL, Friesen HG. In–gel ligand blotting with 125I–heparin for detection of heparin–binding growth factors. Analytical Biochemistry 187(1): 197–201, 1990.
Zimering MB, Brandi ML, DeGrange DA, Marx SJ, Streeten E, Katsumata N, Murphy PR, Sato Y, Friesen HG, Aurbach GD. Circulating fibroblast growth factor–like substance in familial multiple endocrine neoplasia type 1. The Journal of Clinical Endocrinology and Metabolism 70(1): 149–154, 1990.
Ogata T, Matsuo N, Saito M, Prader A. The testicular lesion and sexual differentiation in congenital lipoid adrenal hyperplasia. Helvetica Paediatrica Acta 43(5–6): 531–538, 1989.
Tsuzaki S, Matsuo N, Ogata T, Osano M. Lack of linkage between height and weight and age at menarche during the secular shift in growth of Japanese children. Annals of Human Biology 16(5): 429–436, 1989.
Matsuo N, Ogata T. Characteristics of gonadal dysfunction in congenital lipoid adrenal hyperplasia. Acta Paediatrica Japonica 30(Suppl.): 243, 1988.
Ogata T, Matsuo N, Ishikawa K, Araki K. Effect of cornstarch formula in an infant with type I glycogen storage disease. Acta Paediatrica Japonica 30(5): 547–552, 1988.
Ogata T, Ishikawa K, Kohda E, Matsuo N. Computed tomography in the early detection of congenital lipoid adrenal hyperplasia. Pediatric Radiology 18(4): 360–361, 1988.
Kuroki Y, Katsumata N, Eguchi T, Fukushima Y, Suwa S, Kajii T. Precocious puberty in Kabuki makeup syndrome. The Journal of Pediatrics 110(5): 750–752, 1987.
Suwa S, Katsumata N, Maesaka H, Kusahana A, Yamada Y. Plasma growth hormone response to growth hormone–releasing factor in normal children and children with short stature. Endocrinol Japon, 34(Suppl. 1): 39–50, 1987.
Maesaka H, Suwa S, Tachibana K, Katsumata N. Prolonged activation of hypothalamo–pituitary–ovarian axis during early infancy in female patients with salt–losing 21–hydroxylase deficiency. Pediatric Research 19(12): 1257–1262, 1985.
Saheki T, Imamura Y, Inoue I, Miura M, Ohtake A, Tatibana M, Katsumata N, Ohno T. Molecular basis of ornithine transcarbamylase deficiency lacking enzyme protein. Journal of Inherited Metabolic Disease 7(1): 2–8, 1984.
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