Clarification of (epi)genetic mechanisms involved in the development of human imprinting disorders

• Project/Area Number: 25253023
• Research Category: Grant-in-Aid for Scientific Research (A)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Human genetics
• Research Institution: Hamamatsu University School of Medicine
• Principal Investigator: Ogata Tsutomu 浜松医科大学, 医学部, 教授 (40169173)
• Co-Investigator(Kenkyū-buntansha): KAGAMI MASAYO (独)国立成育医療研究センター研究所, 分子内分泌研究部, 室長 (70399484)
• Project Period (FY): 2013-04-01 – 2016-03-31
• Project Status: Completed (Fiscal Year 2015)
• Budget Amount: ¥46,020,000 (Direct Cost: ¥35,400,000、Indirect Cost: ¥10,620,000); Fiscal Year 2015: ¥15,600,000 (Direct Cost: ¥12,000,000、Indirect Cost: ¥3,600,000); Fiscal Year 2014: ¥15,600,000 (Direct Cost: ¥12,000,000、Indirect Cost: ¥3,600,000); Fiscal Year 2013: ¥14,820,000 (Direct Cost: ¥11,400,000、Indirect Cost: ¥3,420,000)
• Keywords: インプリンティング疾患 / エピジェネティクス / 発症機序 / エピ変異 / iPS細胞 / インプリンティング / ヒト疾患 / メチル化

Outline of Final Research Achievements

We have attempted to clarify underlying (epi)genetic mechanisms involved in the development of human imprinting disorders. Representative results include: (1) identification of the underlying factors, (epi)genotype-phenotype correlations in Silver-Russell syndrome, and detection of mosaic upd(11)mat, (2) identification of epimutations and clarification of (epi)genetic mechanisms and clinical features in Temple syndrome, and (3) determination of detailed clinical features, establishment of clinical diagnostic guideline and molecular diagnostic approach in Kagami-Ogata syndrome. Furthermore, we identified that the boundary of the epimutations in Temple syndrome patients, Kagami-Ogata syndrome patients, and control subjects are virtually identical. This implies that epimutations take place at the region flanked by insulators. We also established iPS cell from Kagami-Ogata syndrome patients.

Research Products

• [Journal Article] Risk assessment of medically assisted reproduction and advanced maternal ages in the development of Prader-Willi syndrome due to UPD(15)mat. (2016)
  • Author(s): Matsubara K, Murakami N, Fukami M, Kagami M, Nagai T, Ogata T
  • Journal Title: Clin Genet. Volume: 89(5) Issue: 5 Pages: 614-619
  • DOI: 10.1111/cge.12691
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Combined steroidogenic characters of fetal adrenal and Leydig cells in childhood adrenocortical carcinoma. (2016)
  • Author(s): Fujisawa Y, Sakaguchi K, Ono H, Yamaguchi R, Kato F, Kagami M, Fukami M, Ogata T.
  • Journal Title: J Steroid Biochem Mol Biol. Volume: 159 Pages: 86-93
  • DOI: 10.1016/j.jsbmb.2016.02.031
  • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Chromosome 6q24 methylation defects are uncommon in childhood-onset non-autoimmune diabetes mellitus patients born appropriate-for-gestational age. (2016)
  • Author(s): Okuno M, Yorifuji T, Kagami M, Ayabe T, Urakami T, Kawamura T, Kikuchi N, Yokota I, Toru Kikuchi, Amemiya S, Suzuki J, Ogata T, Sugihara S, Fukami M and The Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes (JSGIT)
  • Journal Title: Clin Pediatr Endocrinol Volume: 未定
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Silver-Russell syndrome in a patient with somatic mosaicism for upd(11)mat identified by buccal cell analysis. (2016)
  • Author(s): Luk H-M, Lo F-M I, Sano S, Matsbara K, Nakamura A, Ogata T, Kagami M
  • Journal Title: A, J Med Genet A. Volume: 未定
  • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus methylation defects: a female-dominant phenomenon? (2016)
  • Author(s): Sano S, Nagasaki K, Kikuchi T, Nakabayashi K, Hata K, Fukami M, Kagami M, Ogata T
  • Journal Title: J Hum Genet Volume: 未定
  • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Growth references for Japanese individuals with Noonan syndrome. (2016)
  • Author(s): Isojima T, Sakazume S, Haegawa T, Ogata T, Nakanishi T, Nagai T, Yokoya S
  • Journal Title: Pediatr Res Volume: 79 Issue: 4 Pages: 543-548
  • DOI: 10.1038/pr.2015.254
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Copy-number variations of the azoospermia factor region or SRY are not associated with the risk of hypospadias. (2016)
  • Author(s): Kon M, Saio K, Mitsui T, Miyado M, Igarashi M, Moriya K, Nonomura K, Shinohara M, Ogata T, Fukami M
  • Journal Title: Sex Dev Volume: 未定
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations. (2016)
  • Author(s): Yaoita M, Niihori T, Mizuno S, Okamoto N, Hayashi S, Watanabe A, Yokozawa M, Suzumura H, Nakahara A, Nakano Y, Hokosaki T, Ohmori A, Sawada H, Migita O, Mima A, Lapunzina P, Santos-Simarro F, García-Miñaúr S, Ogata T, Kawame H, Kurosawa K, Ohashi H, Inoue S, Matsubara Y, Kure S, Aoki Y.
  • Journal Title: Hum Genet. Volume: 135 Issue: 2 Pages: 209-222
  • DOI: 10.1007/s00439-015-1627-5
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Multiple Androgen Biosynthesis Pathways Are Operating in Women with Polycystic Ovary Syndrome. (2016)
  • Author(s): Saito K, Matsuzaki T, Iwasa T, Miyado M, Saito H, Hasegawa T, Homma K, Inoue E, Kubota T, Irahara M, Ogata T, Fukami M
  • Journal Title: J Steroid Biochem Mol Biol Volume: 158 Pages: 31-37
  • DOI: 10.1016/j.jsbmb.2016.02.010
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis. (2016)
  • Author(s): 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
  • Journal Title: J Hum Genet Volume: 未定 Issue: 7 Pages: 585-591
  • DOI: 10.1038/jhg.2016.18
  • NAID: 40020883994
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Blood allopregnanolone levels in women with polycystic ovary syndrome. (2016)
  • Author(s): Saito K, Matsuzaki T, Iwasa T, Miyado M, Saito H, Kubota T, Irahara M, Ogata T, Fukami M*
  • Journal Title: Clin Endocrinol Volume: 未定 Issue: 1 Pages: 151-152
  • DOI: 10.1111/cen.13080
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Genotype-phenotype correlation of the PAX6 gene mutations in aniridia (2016)
  • Author(s): Yokoi T, Nishina S, Fukami M, Ogata T, Hosono K, Hotta Y, Azuma N.
  • Journal Title: Human Genome Variation Volume: 3 Issue: 1 Pages: 15052-15052
  • DOI: 10.1038/hgv.2015.52
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism. (2016)
  • Author(s): Miyamichi D, Asahina M, Nakajima J, Sato M, Hosono K, Nomura T, Negishi T, Miyake N, Hotta Y, Ogata T, Matsumoto N
  • Journal Title: J Hum Genet Volume: 未定
  • NAID: 40020938230
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] SHOX Haploinsufficiency as a Cause of Syndromic and Non-Syndromic Short Stature. (2016)
  • Author(s): Fukami M. Seki A, Ogata T
  • Journal Title: Mol Syndromol Volume: 未定
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] 軟骨毛髪低形成症 (2016)
  • Author(s): 小野裕之、緒方勤
  • Journal Title: 日本臨床 Volume: 36 Pages: 228-230
  • Peer Reviewed
• [Journal Article] Silver-Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1C (2015)
  • Author(s): Nakashima S, Kato F, Kosho T, Nagasaki K, Kikuchi T, Kagami M, Fukami M, Ogata T
  • Journal Title: J Hum Genet Volume: 60(2) Issue: 2 Pages: 91-95
  • DOI: 10.1038/jhg.2014.100
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome) (2015)
  • Author(s): Kagami M, Kurosawa K, Miyazaki O, Ishino F, Matsuoka K, Ogata T
  • Journal Title: Eur J Hum Genet Volume: 2 Issue: 11 Pages: 1-8
  • DOI: 10.1038/ejhg.2015.13
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Growth hormone deficiency in monozygotic twins with autosomal dominant pseudohypoparathyroidism type Ib (2015)
  • Author(s): Sano S, Iwata H, Matsubara K, Fukami M, Kagami M, Ogata T.
  • Journal Title: Endocrine Journal Volume: 62 Issue: 6 Pages: 523-529
  • DOI: 10.1507/endocrj.EJ15-0033
  • NAID: 130005085768
  • ISSN: 0918-8959, 1348-4540
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Exploration of hydroxymethylation in Kagami-Ogata syndrome caused by hypermethylation of imprinting control regions. (2015)
  • Author(s): Matsubara K, Kagami M, Nakabayashi K, Hata K, Fukami M, Ogata T, Yamazawa K.
  • Journal Title: Clin Epigenetics Volume: 28;7(1) Issue: 1 Pages: 90-90
  • DOI: 10.1186/s13148-015-0124-y
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Copy-number variations in Y chromosomal azoospermia factor regions identified by multiplex ligation-dependent probe amplification (2015)
  • Author(s): Saito K, Miyado M, Kobori Y, Tanaka Y, Ishikawa H, Yoshida A, Katsumi M, Saito H, Kubota T, Okada H, Ogata T, Fukami M
  • Journal Title: J Hum Genet Volume: 60(3) Issue: 3 Pages: 127-31
  • DOI: 10.1038/jhg.2014.115
  • Peer Reviewed
• [Journal Article] Detecting copy number variations in whole exome sequencing data using exome hidden markov model - an expectation of “exome-first” approach. (2015)
  • Author(s): Miyatake S, Koshimizu E, Fujita A, Fukai R, Imagawa E, Ohba C, Kuki I, Makita Y, Ogata T, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N
  • Journal Title: J Hum Genet Volume: 1 Issue: 4 Pages: 124-124
  • DOI: 10.1038/jhg.2014.124
  • Peer Reviewed / Open Access
• [Journal Article] Novel splice site mutation in MAMLD1 in a patient with hypospadias. (2015)
  • Author(s): 10.1038/ejhg.2015.13
  • Journal Title: Sex Dev Volume: 3 Issue: 3 Pages: 1-1
  • DOI: 10.1159/000380842
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Impact of a novel homozygous mutation in nicotinamide nucleotide transhydrogenase on mitochondrial DNA integrity in a case of familial glucocorticoid deficiency. (2015)
  • Author(s): Fujisawa Y, Napoli E, Wong S, Song G, Yamaguchi R, Matsui T, Nagasaki K, Ogata T, Giulivi C
  • Journal Title: BBA Clinical Volume: 1 Pages: 70-78
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] SOX3 overdosage permits normal sex development in females with random X inactivation (2015)
  • Author(s): Igarashi M, Mikami H, Katsumi M, Miyado M, Izumi Y, Ogata T, Fukami M
  • Journal Title: Sex Dev Volume: 3 Issue: 3 Pages: 1-1
  • DOI: 10.1159/000377653
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Endocrinopathies in a Boy with Cryptic Copy-number Variations on 4q, 7q, and Xp. (2015)
  • Author(s): Okuno M, Ogata T, Nakabayashi K, Urakami T, Fukami M, Nagasaki K
  • Journal Title: Hum Genome Variat. Volume: 2 Issue: 1 Pages: 15020-15020
  • DOI: 10.1038/hgv.2015.20
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature. (2015)
  • Author(s): 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
  • Journal Title: J Hum Genet Volume: 60 Issue: 9 Pages: 553-556
  • DOI: 10.1038/jhg.2015.53
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Loss-of-Function SOX10 Mutation in a Patient with Kallmann Syndrome, Hearing Loss, and Iris Hypopigmentation. (2015)
  • Author(s): Suzuki E, Izumi Y, Chiba Y, Horikawa R, Matsubara Y, Tanaka M, Ogata T, Fukami M, Naiki Y.
  • Journal Title: Hormone Research in Paediatrics Volume: 84 Issue: 3 Pages: 212-216
  • DOI: 10.1159/000436965
  • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency. (2015)
  • Author(s): Choi JH, Balasubramanian R, Lee PH, Shaw ND, Hall JE, Plummer L, Buck CL, Kottler ML, Jarzabek K, Wolczynski S, Quinton R, Latronico AC, Dode C, Ogata T, Kim HG, Layman LC, Gusella JF, Crowley WF Jr
  • Journal Title: J Clin Endocrinol Metab Volume: 100 Issue: 10 Pages: E1378-E1385
  • DOI: 10.1210/jc.2015-2262
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Femoral-tibial-digital malformations in a boy with the Japanese founder triplication of BHLHA9. (2015)
  • Author(s): Nagata E, Haga N, Fujisawa Y, Fukami M, Nishimura G, Ogata T.
  • Journal Title: Am J Med Genet A Volume: 167 Issue: 12 Pages: 3226-3228
  • DOI: 10.1002/ajmg.a.37290
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Human chorionic gonadotropin stimulation test in prepubertal children with micropenis can accurately predict Leydig cell function in pubertal or postpubertal adolescents. (2015)
  • Author(s): Ishii T, Matsuo N, Amano N, Hori N, Inokuchi M, Sasaki G, Kamimaki T, Anzo M, Tamai S, Ogata T, Sato S, Hasegawa T
  • Journal Title: Horm Res Paediatr Volume: 87 Issue: 5 Pages: 305-310
  • DOI: 10.1159/000439234
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Parturition failure in mice lacking Mamld1. (2015)
  • Author(s): Miyado M, Miyado K, Katsumi M, Saito K, Nakamura A, Shihara D, Ogata T, Fukami M.
  • Journal Title: Scientific Reports Volume: 5 Issue: 1 Pages: 14705-14705
  • DOI: 10.1038/srep14705
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Novel RAB3GAP1 compound heterozygous mutations in Japanese siblings with Warburg Micro syndrome. (2015)
  • Author(s): Asahina M, Endoh Y, Matsubayashi T, Fukuda T, Ogata T
  • Journal Title: Brain Dev Volume: 38 Issue: 3 Pages: 337-340
  • DOI: 10.1016/j.braindev.2015.09.006
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Lack of Skeletal Dysplasia in Patients with Missense Mutations and Upstream Deletion of SOX9. (2015)
  • Author(s): 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, and Fukami M
  • Journal Title: Molecular Genetics & Genomic Medicine Volume: 3 Issue: 6 Pages: 550-557
  • DOI: 10.1002/mgg3.165
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Development of waist circumference percentiles for Japanese children and an examination of their screening utility for childhood metabolic syndrome: a population-based cross-sectional study. (2015)
  • Author(s): Matsushita R, Isojima T, Takaya R, Satake E, Yamaguchi R, Kitsuda K, Nagata E, Sano S, Nakanishi T, Nakagawa Y, Ohzeki T, Ogata T, Fujisawa Y.
  • Journal Title: BMC Public Health Volume: 13 Issue: 1 Pages: 1121-1121
  • DOI: 10.1186/s12889-015-2447-1
  • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome). (2015)
  • Author(s): Kagami M, Kurosawa K, Miyazaki O, Ishino F, Matsuoka K, Ogata T
  • Journal Title: Eur J Hum Genet. Volume: 23(11) Issue: 2 Pages: 1488-1498
  • DOI: 10.1038/jhg.2015.113
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] 小児期発症の神経サルコイドーシスが疑われる2例 (2015)
  • Author(s): 平出拓也、福田冬季子、松林朋子、石垣英俊、朝比奈美輝、田口智英、宮本健、緒方勤
  • Journal Title: 日小児会誌 Volume: 119 Pages: 1095-1101
  • Peer Reviewed
• [Journal Article] インプリンティング疾患発症機序について (2015)
  • Author(s): 緒方勤
  • Journal Title: 脳と発達 Volume: 47 Pages: 17-22
  • NAID: 130005005773
  • Peer Reviewed
• [Journal Article] 身長の性差 (2015)
  • Author(s): 緒方勤
  • Journal Title: チャイルドヘルス Volume: 18 Pages: 41-45
  • Peer Reviewed
• [Journal Article] 性の分化および生殖発生遺伝学 (2015)
  • Author(s): 緒方勤
  • Journal Title: 産婦人科の実際 Volume: 64 Pages: 391-396
  • Peer Reviewed
• [Journal Article] Klippel-Feil症候群 (2015)
  • Author(s): 小野裕之、緒方勤
  • Journal Title: Clinical Neuroscience Volume: 33 Pages: 440-441
  • Peer Reviewed
• [Journal Article] ヒトインプリンティング異常症発症機序：Kagami-Ogata syndrome / Temple syndromeを主として． (2015)
  • Author(s): 緒方勤
  • Journal Title: ホルモンと臨床 Volume: 61 Pages: 69-78
  • Peer Reviewed
• [Journal Article] 生殖補助医療と小児科とのかかわり． (2015)
  • Author(s): 6.緒方勤
  • Journal Title: 小児科臨床 Volume: 68 Pages: 13-20
• [Journal Article] MAMLD1：胎生期精巣におけるステロイドホルモン産生の新規調節因子． (2015)
  • Author(s): 宮戸真美、宮戸健二、緒方勤、深見真紀
  • Journal Title: 日本生殖内分泌学会雑誌 Volume: 20 Pages: 19-24
  • NAID: 40020590072
  • Peer Reviewed
• [Journal Article] 遺伝子解析と遺伝カウンセリング． (2015)
  • Author(s): 緒方勤、深見真紀
  • Journal Title: 産婦人科の実際 （いま、性分化とその異常を考える） Volume: 64 Pages: 1301-1307
  • Peer Reviewed
• [Journal Article] Hemodynamic assessment in a child with renovascular hypertension using time-resolved three-dimensional cine phase-contrast MRI (2015)
  • Author(s): Ishikawa T*, Takehara Y, Yamashita S, Iwashima S, Sugiyama M, Wakayama T, Johnson K, Wieben O, Sakahara H, Ogata T
  • Journal Title: J Magn Reson Imaging Volume: 41(1) Issue: 1 Pages: 165-168
  • DOI: 10.1002/jmri.24522
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] A 45,X/46,XY DSD (Disorder of Sexual Development) case with an extremely uneven distribution of 46,XY cells between lymphocytes and gonads (2015)
  • Author(s): Nomura R, Miyai K, Okada M, Kajiwara M, Ono M, Ogata T, Onishi I, Sato M, Sekine M, Akashi T, Mizutani S, Kashimada K
  • Journal Title: Clinical Pediatric Endocrinology Volume: 24 Issue: 1 Pages: 11-14
  • DOI: 10.1297/cpe.24.11
  • NAID: 130004853607
  • ISSN: 0918-5739, 1347-7358
  • Peer Reviewed
• [Journal Article] Molecular basis of non-syndromic hypospadias: Systematic mutation screening and genome-wide copy-number analysis of 62 patients. (2015)
  • Author(s): Kon M, Suzu ki 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
  • Journal Title: Hum Reprod Volume: 30(3) Issue: 3 Pages: 499-506
  • DOI: 10.1093/humrep/deu364
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Microhomology-Mediated Microduplication in the Y Chromosomal Azoospermia Factor a (AZFa) Region in a Male with Mild Asthenozoospermia. (2015)
  • Author(s): Katsumi M, Ishikawa H, Tanaka Y, Saito K, Kobori Y, Okada H, Saito H, Nakabayashi K, Matsubara Y, Ogata T, Fukami M, Miyado M
  • Journal Title: Cytogenet Genome Res Volume: 3 Issue: 4 Pages: 1-1
  • DOI: 10.1159/000377649
  • Peer Reviewed
• [Journal Article] Impact of a novel homozygous mutation in nicotinamide nucleotide transhydrogenase on mitochondrial DNA integrity in a case of familial glucocorticoid deficiency. (2015)
  • Author(s): Fujisawa Y, Napoli E, Wong S, Song G, Yamaguchi R, Matsui T, Nagasaki K, Ogata T, Giulivi C
  • Journal Title: BBA clinical Volume: 3 Pages: 70-78
  • DOI: 10.1016/j.bbacli.2014.12.003
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver-Russell syndrome-compatible phenotype (2014)
  • Author(s): Kagami M, Mizuno S, Matsubars K, Nakabayashi K, Sano S, Fuke T, Fukami M, Ogata T
  • Journal Title: Eur J Hum Genet Volume: 11 Issue: 8 Pages: 1-6
  • DOI: 10.1038/ejhg.2014.234
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Hypogonadotropic hypogonadism in a female patient previously diagnosed as having Waardenburg syndrome due to a SOX10 mutation (2014)
  • Author(s): Izumi Y, Musha I, Suzuki E, Iso M, Jinno T, Horikawa R, Amemiya S, Ogata T, Fukami M, Ohtake A
  • Journal Title: Endocrine Volume: 10 Issue: 2 Pages: 1-1
  • DOI: 10.1007/s12020-014-0434-4
  • Peer Reviewed
• [Journal Article] Lack of genomic rearrangements involving the aromatase gene CYP19A1 in breast cancer. (2014)
  • Author(s): Fukami M*, Suzuki J, Nakabayashi K, Tsunashima R, Ogata T, Shozu M, Noguchi S
  • Journal Title: Breast Cancer Volume: 21 (3) Issue: 3 Pages: 382-385
  • DOI: 10.1007/s12282-013-0471-5
  • Peer Reviewed
• [Journal Article] IMAGe syndrome: clinical and genetic implications based on Iinvestigations in three Japanese patients. (2014)
  • Author(s): Kato F, Hamajima T, Hasegawa T, Amano N, Horikawa R, Nishimura G, Nakashima S, Fuke T, Sano S, Fukami M, Ogata T
  • Journal Title: Clin Endocrinol Volume: 80 (5) Issue: 5 Pages: 706-713
  • DOI: 10.1111/cen.12379
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of the human imprintome and suggests a germline methylation independent establishment of imprinting. (2014)
  • Author(s): Court F, Tayama C, Romanelli V, Martin-Trujillo A, Iglesias-Platas I, Okamura K, Sugahara N, Simon C, Moore H, Harness J, Keirstead H, Vicente Sanchez-Mut J, Kaneki E, Lapunzina P, Soejima H, Wake N, Esteller M, Ogata T, Hata K, Nakabayashi K, Monk D*
  • Journal Title: Genome Res Volume: in press Issue: 4 Pages: 554-569
  • DOI: 10.1101/gr.164913.113
  • Peer Reviewed / Open Access
• [Journal Article] Identification and Functional Characterization of Two Novel NPR2 Mutations in Japanese Patients with Short Stature. (2014)
  • Author(s): Amano N, Mukai T, Ito Y, Narumi S, Tanaka T, Yokoya S, Ogata T, Hasegawa T*
  • Journal Title: J Clin Endocrinol Metab Volume: Epub ahead of print Issue: 4 Pages: E713-E718
  • DOI: 10.1210/jc.2013-3525
  • Peer Reviewed / Open Access
• [Journal Article] TBX1 Mutation Identified by Exome Sequencing in a Japanese Family with 22q11.2 Deletion Syndrome-like Craniofacial Features and Hypocalcemia. (2014)
  • Author(s): Ogata T*, Niihori T, Tanaka N, Kawai M, Nagashima T, Funayama R, Nakayama K, Nakashim S, Kato F, Fukami M, Aoki Y, Matsubara Y
  • Journal Title: PLoS One Volume: 9 Issue: 3 Pages: e91598-e91598
  • DOI: 10.1371/journal.pone.0091598
  • Peer Reviewed / Open Access
• [Journal Article] A missense single-nucleotide polymorphism in the sialic acid acetyl esterase gene is associated with anti-PIT-1 antibody syndrome. (2014)
  • Author(s): Yamamoto M, Iguchi G, Bando H, Fukuoka H, Suda K, Takahashi M, Nishizawa H, Matsumoto R, Tojo K, Mokubo A, Ogata T, Takahashi Y
  • Journal Title: Endocr J Volume: 61 (6) Pages: 641-644
  • Peer Reviewed / Open Access
• [Journal Article] Mutation Spectrum and Phenotypic Variation in Nine Patients with SOX2 abnormalities (2014)
  • Author(s): 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
  • Journal Title: J Hum Genet Volume: 59 (6) Issue: 6 Pages: 353-356
  • DOI: 10.1038/jhg.2014.34
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] 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. (2014)
  • Author(s): Matsubara K, Kataoka N, Ogita S, Sano S, Ogata T, Fukami M*, Katsumata N
  • Journal Title: Endocr J Volume: 61 (6) Pages: 629-633
  • NAID: 130004770452
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Early vitamin K deficiency bleeding in a neonate associated with maternal Crohn's disease (2014)
  • Author(s): Ohishi A, Nakashima S, Ogata T, Iijima S
  • Journal Title: J Perinatol Volume: 34(8) Issue: 8 Pages: 636-639
  • DOI: 10.1038/jp.2014.64
  • Peer Reviewed
• [Journal Article] Rationale and study design of the Japan environment and children’s study (JECS) (2014)
  • Author(s): Kawamoto T, Nitta H, Murata K, Toda E, Tsukamoto N, Hasegawa M, Yamagata Z, Kayama F, Kshi R, Ohya Y, Saito H, Sago H, Okuyama M, Ogata T, Yokoya S, Koresawa Y, Shibata Y, Nakayama S, Michikawa T, Takeuchi A, Saitoh H
  • Journal Title: BMC Public Health Volume: 14 Issue: 1 Pages: 25-25
  • DOI: 10.1186/1471-2458-14-25
  • Peer Reviewed / Open Access
• [Journal Article] Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions (DMRs) to aberrant methylation in Beckwith-Wiedemann syndrome with epimutations (2014)
  • Author(s): Maeda T, Higashimoto K, Jozaki K, Hitomi 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
  • Journal Title: Genet Med Volume: 16(12) Issue: 12 Pages: 903-912
  • DOI: 10.1038/gim.2014.46
  • Peer Reviewed / Open Access
• [Journal Article] Genome-wide copy number analysis and systematic mutation screening in 58 patients with hypogonadotropic hypogonadism (2014)
  • Author(s): 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*
  • Journal Title: Fertil Steril Volume: 102 (4) Pages: 1130-1136
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] 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. (2014)
  • Author(s): Nakashima S, Oishi A, Takada F, Kawamura H, Igarashi M, Fukami M, Ogata T
  • Journal Title: J Hum Genet Volume: 59(10) Issue: 10 Pages: 549-553
  • DOI: 10.1038/jhg.2014.70
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex. (2014)
  • Author(s): Nagata E, Kano H, Kato F, Yamaguchi R, Nakashima S, Takayama S, Kosaki R, Tonoki H, Mizuno S, Watanabe S, Yoshiura KI, 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, et al.
  • Journal Title: Orphanet J Rare Dis Volume: 9 Issue: 1 Pages: 125-125
  • DOI: 10.1186/s13023-014-0125-5
  • Peer Reviewed / Open Access
• [Journal Article] A missense single-nucleotide polymorphism in the sialic acid acetylesterase (<i>SIAE</i>) gene is associated with anti&ndash;PIT-1 antibody syndrome (2014)
  • Author(s): Yamamoto M, Iguchi G, Bando H, Fukuoka H, Suda K, Takahashi M, Nishizawa H, Matsumoto R, Tojo K, Mokubo A, Ogata T, Takahashi Y
  • Journal Title: Endocrine Journal Volume: 61 Issue: 6 Pages: 641-644
  • DOI: 10.1507/endocrj.EJ13-0539
  • NAID: 130004770453
  • ISSN: 0918-8959, 1348-4540
  • Peer Reviewed / Open Access
• [Journal Article] Review: Understanding the pathological manifestations of aromatase excess syndrome: lessons for the clinic. (2014)
  • Author(s): M. Shozu, M. Fukami and T. Ogata
  • Journal Title: Expert Rev. Endocrinol. Metab. Volume: 9 Issue: 4 Pages: 397-409
  • DOI: 10.1586/17446651.2014.926810
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Review: Cytochrome P450 oxidoreductase deficiency: Rare congenital disorder leading to skeletal malformations and steroidogenic defects. (2014)
  • Author(s): M. Fukami and T. Ogata
  • Journal Title: Pediatr. Int. Volume: 56 Issue: 6 Pages: 805-808
  • DOI: 10.1111/ped.12518
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Mutation Spectrum and Phenotypic Variation in Nine Patients with SOX2 abnormalities. (2014)
  • Author(s): Fukami M*, 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
  • Journal Title: J Hum Genet Volume: in press
  • Peer Reviewed
• [Journal Article] A missense single-nucleotide polymorphism in the sialic acid acetyl esterase gene is associated with anti-PIT-1 antibody syndrome. (2014)
  • Author(s): Yamamoto M, Iguchi G, Bando H, Fukuoka H, Suda K, Takahashi M, Nishizawa H, Matsumoto R, Tojo K, Mokubo A, Ogata T, Takahashi Y*
  • Journal Title: Endocr J Volume: in press
  • Peer Reviewed
• [Journal Article] Disorder of sex development in an infant with molecularly confirmed 46,XY, +der(10)t(10;21)(q21.1;q21.3), -21. (2014)
  • Author(s): Yagasaki H*, Nakane T, Saito T, Koizumi K, Kobayashi K, Ogata T
  • Journal Title: Am J Med Genet A Volume: 164 Issue: 3 Pages: 841-843
  • DOI: 10.1002/ajmg.a.36354
  • Peer Reviewed
• [Journal Article] Prenatal Genetic testing for a microdeletion at chromosome 14q32.2 imprinted region leading to upd(14)pat-like phenotype. (2014)
  • Author(s): Sasaki A, Sumie M, Eada S, Kosaki R, Kurosawa K, Fukami M, Sago H, Ogata T, Kagami M*
  • Journal Title: Am J Med Genet A Volume: 164A Issue: 1 Pages: 264-266
  • DOI: 10.1002/ajmg.a.36185
  • Peer Reviewed
• [Journal Article] Aromatase excess syndrome in a family with upstream deletion of CYP19A1 (2013)
  • Author(s): Shihara D, Miyado M, Nakabayashi K, Shozu M, Nagasaki K, Ogata T, Fukami M*
  • Journal Title: Clin Endocrinol, Volume: Epub ahead of print Issue: 2 Pages: 314-316
  • DOI: 10.1111/cen.12329
  • Peer Reviewed
• [Journal Article] De novo frameshift mutation in fibroblast growth factor 8 in a male patient with gonadotropin deficiency (2013)
  • Author(s): Suzuki E, Yatsuga S, Igarashi M, Miyado M, Nakabayashi K, Hayashi K, Hata K, Umezawa A, Yamada G, Ogata T, Fukami M*
  • Journal Title: Horm Res Paediatr , Volume: 81 Issue: 2 Pages: 139-144
  • DOI: 10.1159/000355380
  • Peer Reviewed / Open Access
• [Journal Article] A novel de novo point mutation of OCT-binding site in the IGF2/H19-imprinting control region in a patient with Beckwith-Wiedemann syndrome. (2013)
  • Author(s): Higashimoto K, Jozaki K, Kosho T, Matsubara K, Sato T, Yamada D, Yatsuki H, Maeda T, Ohtsuka Y, Nishioka K, Joh K, Koseki H, Ogata T, SoejimaH*
  • Journal Title: Clin Genet Volume: in press Issue: 6 Pages: 539-544
  • DOI: 10.1111/cge.12318
  • Peer Reviewed / Open Access
• [Journal Article] Backdoor pathway for dihydrotestosterone biosynthesis: implications for normal and abnormal human sex development. (2013)
  • Author(s): Fukami M, Homma K, Hasegawa T, Ogata T*
  • Journal Title: Dev Dyn , Volume: 4 Issue: 4 Pages: 320-329
  • DOI: 10.1002/dvdy.23892
  • Peer Reviewed
• [Journal Article] Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions (DMRs) to aberrant methylation in Beckwith-Wiedemann syndrome with epimutations. (2013)
  • Author(s): 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*
  • Journal Title: Genet Med Volume: in press
  • Peer Reviewed
• [Journal Article] Genomic basis of aromatase excess syndrome: recombination- and replication-mediated rearrangements leading to CYP19A1 overexpression. (2013)
  • Author(s): Fukami M*, Tsuchiya T, Vollbach H, Brown KA, Abe S, Ohtsu S, Wabitsch M, Gurger H, Sompson ER, Emezawa A, Nakabayashi K, Bulun SE, Shozu M, Ogata T
  • Journal Title: J Clin Endocrinol Metab Volume: 98 Issue: 12 Pages: E2013-E2021
  • DOI: 10.1210/jc.2013-2520
  • Peer Reviewed
• [Journal Article] Compound heterozygous deletions in pseudoautosomal region 1 in an infant with mild manifestsations of Langer mesomelic dysplasia. (2013)
  • Author(s): Tsuchiya T, Shibata M, Numabe H, Jinnno T, Nakabayashi K, Nishimura G, Nagai T, Ogata T, Fukami M*
  • Journal Title: Am J Med Genet A Volume: in press Issue: 2 Pages: 505-510
  • DOI: 10.1002/ajmg.a.36284
  • Peer Reviewed
• [Journal Article] Critical role of Yp inversion in PRKX/PRKY-mediated Xp;Yp translocation in a patient with 45,X testicular disorder of sex development. (2013)
  • Author(s): Nakashima S, Watanabe Y, Okada J, Ono H, Nagata E, Fukami M, Ogata T*
  • Journal Title: Endocr J Volume: 60 Pages: 1329-1334
  • NAID: 130004770409
  • Peer Reviewed
• [Journal Article] Long term follow up study for a patient with Floating-Harbor syndrome due to a hotspot SRCAP mutation. (2013)
  • Author(s): Nagasaki K*, Asami T, Sato H, Ogawa Y, Kikuchi T, Saitoh A, Ogata T, Fukami M
  • Journal Title: Am J Med Genet A, Volume: 164 Issue: 3 Pages: 731-735
  • DOI: 10.1002/ajmg.a.36314
  • Peer Reviewed
• [Journal Article] Identification of AP2S1 Mutation and Effects of Low Calcium Formula in an Infant with Hypercalcemia and Hypercalciuria. (2013)
  • Author(s): Fujisawa Y*, Yamaguchi R, Satake E, Ohtaka K, Nakanishi T, Ozono K, Ogata T
  • Journal Title: J Clin Endocrinol Metab Volume: 98 Issue: 12 Pages: E2022-E2027
  • DOI: 10.1210/jc.2013-2571
  • Peer Reviewed
• [Journal Article] Lack of genomic rearrangements involving the aromatase gene CYP19A1 in breast cancer. (2013)
  • Author(s): Fukami M*, Suzuki J, Nakabayashi K, Tsunashima R, Ogata T, Shozu M, Noguchi S
  • Journal Title: Breast Cancer Volume: Epub ahead of print
  • Peer Reviewed
• [Journal Article] The lipid fraction of human milk initiates adipocyte differentiation in 3T3-L1 cells. (2013)
  • Author(s): Fujisawa Y*, Yamaguchi R, Nagata E, Satake E, Sano S, Matsushita R, Kitsuta K, Nakashima S, Nakanishi T, Nakagawa Y, Ogata T
  • Journal Title: Early Hum Dev Volume: Epub ahead of print Issue: 9 Pages: 713-719
  • DOI: 10.1016/j.earlhumdev.2013.05.002
  • Peer Reviewed
• [Journal Article] A 68-year-old phenotypically male patient with 21-hydroxylase deficiency and concomitant adrenocortical neoplasm producing testosterone and cortisol. (2013)
  • Author(s): Hayashi M*, Kataoka Y, Sugimura Y, Kato F, Fukami M, Ogata T, Homma K, Hasegawa T, Oiso Y, Sasano H, Tanaka H
  • Journal Title: Tohoku J Exp Med Volume: 231 Pages: 75-84
  • NAID: 130004720753
  • Peer Reviewed
• [Journal Article] Cryptic genomic rearrangements in three patients with 46,XY disorders of sex development. (2013)
  • Author(s): Igarashi M, Dung VC, Suzuki E, Ida S, Nakacho M, Nakabayashi K, Mizuno K, Hayashi Y, Kohri K, Kojima Y, Ogata T, Fukami M*
  • Journal Title: PLoS One Volume: 8
  • Peer Reviewed
• [Journal Article] Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. (2013)
  • Author(s): Aoki Y*, Niihori T, Banjo T, Okamoto N, Mizuno S, Kurosawa K, Ogata T, Takada F, Yano M, Ando T, Hoshika T, Barnett C, Ohashi H, Kawame H, Hasegawa T, Okutani T, Nagashima T, Hasegawa S, Funayama R, Nagashima T, Nakayama K, Inoue S, Watanabe Y, Ogura T, Matsubara Y
  • Journal Title: Am J Hum Genet Volume: 93 Pages: 173-180
  • Peer Reviewed
• [Journal Article] Glucose-6-phosphate dehydrogenase deficiency and adrenal hemorrhage in a Filipino neonate with hyperbilirubinemia. (2013)
  • Author(s): Ohishi A*, Ueno D, Ogata T
  • Journal Title: AJP Rep Volume: 3 Issue: 01 Pages: 5-8
  • DOI: 10.1055/s-0032-1329125
  • Peer Reviewed
• [Journal Article] MLL2 and KDM6A mutations in patients with Kabuki syndrome. (2013)
  • Author(s): Miyake N*, Koshimizu E, Okamoto N, Mizuno S, Ogata T,at all
  • Journal Title: Am J Med Genet A Volume: 161 Issue: 9 Pages: 2234-2243
  • DOI: 10.1002/ajmg.a.36072
  • Peer Reviewed
• [Journal Article] Human glutathione S-transferase A (GSTA) family genes are regulated by steroidogenic factor 1 (SF-1) and are involved in steroidogenesis. (2013)
  • Author(s): 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
  • Journal Title: FASEB J Volume: 27 Issue: 8 Pages: 3198-3208
  • DOI: 10.1096/fj.12-222745
  • Peer Reviewed
• [Journal Article] Submicroscopic deletion involving the fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiency. (2013)
  • Author(s): Fukami M*, Iso M, Sato N, Igarashi M, Seo M, Kazukawa I, Kinoshita E, Dateki S, Ogata T
  • Journal Title: Endocr J Volume: 60 Pages: 1013-1020
  • NAID: 10031195771
  • Peer Reviewed
• [Journal Article] A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency. (2013)
  • Author(s): Yamaguchi R, Kato F, Hasegawa T, Katsumata N, Fukami M, Matsui T, Nagasaki K, Ogata T
  • Journal Title: Endocr J Volume: 60 Pages: 855-859
  • NAID: 10031195753
  • Peer Reviewed
• [Journal Article] Birth seasonality in Prader-Willi syndrome resulting from chromosome 15 microdeletion. (2013)
  • Author(s): Ayabe T, Matsubara K, Ogata T, Ayabe A, Murakami N, Nagai T, Fukami M*
  • Journal Title: Am J Med Genet A Volume: 161 Issue: 6 Pages: 1495-1497
  • DOI: 10.1002/ajmg.a.35893
  • Peer Reviewed
• [Journal Article] Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome. (2013)
  • Author(s): Fuke T, Mizuno S, Nagai T, Hasegawa T, Horikawa R, Miyoshi Y, Muroya K, Kondoh T, Numakura C, Sato S, Nakabayashi K, Tayama C, Hata K, Sano S, Matsubara K, Kagami M, Yamazawa K, Ogata T*
  • Journal Title: PLoS One Volume: 8
  • Peer Reviewed
• [Journal Article] Neuromuscular symptoms in a patient with familial pseudohypoparathyroidism type Ib diagnosed by methylation-specific multiplex ligation-dependent probe amplification (2013)
  • Author(s): Nagasaki K*, Tsuchuya S, Saitoh A, Ogata T, Fukami M
  • Journal Title: Endocr J,VOL Volume: 60 Pages: 231-236
  • NAID: 10031156746
  • Peer Reviewed
• [Journal Article] A report of two novel NR5A1 mutation families: possible clinical phenotype of psychiatric symptoms of anxiety and/or depression. (2013)
  • Author(s): Suzuki-Suwanai A, Ishii T, Haruna H, Yamataka A, Narumi S, Fukuzawa R, Ogata T, Hasegawa T*
  • Journal Title: Clin Endocrinol Volume: 78 Issue: 6 Pages: 957-965
  • DOI: 10.1111/cen.12054
  • Peer Reviewed
• [Journal Article] 性分化疾患の性自認に関する調査研究 (2013)
  • Author(s): 大山建司，深見真紀，緒方勤
  • Journal Title: 日小児会誌 Volume: 117 Pages: 1403-1409
  • NAID: 10031195068
  • Peer Reviewed
• [Journal Article] 新規男性ホルモン産生経路：正常性分化および性分化疾患発症における役割 (2013)
  • Author(s): 深見真紀，緒方勤
  • Journal Title: 細胞工学（特集：性決定分化の制御システム） Volume: 32 Pages: 193-198
  • Peer Reviewed
• [Journal Article] 性分化疾患の検査の進め方 (2013)
  • Author(s): 緒方勤
  • Journal Title: 小児内科（特集：負荷試験の実際） Volume: 45 Pages: 815-820
  • Peer Reviewed
• [Journal Article] Aromatase excess syndrome: a rare autosomal dominant disorder leading to pre- or peri-pubertal onset gynecomastia. (2013)
  • Author(s): Fukami M*, Miyado M, Nagasaki K, Shozu M, Ogata T
  • Journal Title: Pediatr Endocr Rev Volume: in press
  • Peer Reviewed
• [Journal Article] Advanced maternal age at childbirth and the development of uniparental disomy. A commentary on the proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea. (2013)
  • Author(s): Matsubara K, Ogata T*
  • Journal Title: J Hum Genet Volume: 58 Issue: 3 Pages: 118-119
  • DOI: 10.1038/jhg.2013.4
  • NAID: 10031164067
  • Peer Reviewed
• [Presentation] 性染色体の最新知識 (2016)
  • Author(s): 緒方勤
  • Organizer: 第17回東日本ターナー講演会
  • Place of Presentation: 東京
  • Year and Date: 2016-04-09
  • Invited
• [Presentation] 性分化疾患発症機序：単一遺伝子・多因子・ゲノム構造の観点から (2016)
  • Author(s): 緒方勤
  • Organizer: 第23回小児医療セミナー
  • Place of Presentation: 東京
  • Year and Date: 2016-02-27
  • Invited
• [Presentation] 性分化疾患の基礎と臨床 (2016)
  • Author(s): 緒方勤
  • Organizer: 第1回彩の会学術講演会
  • Place of Presentation: 鹿児島
  • Year and Date: 2016-02-17
  • Invited
• [Presentation] ターナー症候群の発症機序 (2016)
  • Author(s): 緒方勤
  • Organizer: 第15回東海不妊内分泌研究会
  • Place of Presentation: 浜松
  • Year and Date: 2016-01-30
  • Invited
• [Presentation] 小児副腎低形成症ならびに小児副腎皮質腫瘍の分子病態：アルドステロン・コルチゾール分泌異常症の新展開 (2016)
  • Author(s): 藤澤泰子 緒方勤
  • Organizer: 第23回日本ステロイドホルモン学会学術集会
  • Place of Presentation: 倉敷
  • Year and Date: 2016-01-15
  • Invited
• [Presentation] 中枢性性線機能低下症の基礎と臨床 (2016)
  • Author(s): 緒方勤
  • Organizer: 第20回日本日本生殖内分泌学会特別講演
  • Place of Presentation: 神戸
  • Year and Date: 2016-01-09
  • Invited
• [Presentation] 性分化疾患における診断・治療の進歩：中枢性性線機能低下症を中心に． (2015)
  • Author(s): 緒方勤
  • Organizer: 第27回奈良小児内分泌研究会
  • Place of Presentation: 奈良
  • Year and Date: 2015-10-29
  • Invited
• [Presentation] 先天性内分泌疾患とゲノム構造異常 (2015)
  • Author(s): 緒方勤
  • Organizer: 第60回日本人類遺伝学会教育講演
  • Place of Presentation: 東京
  • Year and Date: 2015-10-14
  • Invited
• [Presentation] Silver-Russell Syndrome without Body Asymmetry in Three Patients with Duplications of Maternally Derived Chromosome 11p15 Involving CDKN1C (2015)
  • Author(s): Shinichi Nakashima,Fumiko Kato,Tomoki Kosho,Keisuke Nagasaki,Toru Kikuchi,Masayo Kagami,Maki Fukami,Tsutomu Ogata
  • Organizer: ESPE BARCELONA 54th Annual Meeting
  • Place of Presentation: Barcelona
  • Year and Date: 2015-10-01
  • Int'l Joint Research
• [Presentation] Various Imprinting Disorders Underlying Silver-Russell Syndrome-Compatible Phenotype (2015)
  • Author(s): Masayo Kagami,Keiko Matsubara,Shinichiro Sano,Akie Nakamura,Seiji Mizuno,Naoki Hamajima,Atsuhiro Yanagisawa,Miyuki Hashimoto,Akira Yukote,Maki Fukami,Tsutomu Ogata
  • Organizer: ESPE BARCELONA 54th Annual Meeting
  • Place of Presentation: Barcelona
  • Year and Date: 2015-10-01
  • Int'l Joint Research
• [Presentation] エピジェネティクスと小児内分泌疾患 (2015)
  • Author(s): 緒方勤
  • Organizer: 第20回小児内分泌専門セミナー
  • Place of Presentation: 東京
  • Year and Date: 2015-08-21
  • Invited
• [Presentation] Kagami-Ogata syndrome: a clinically recognizable imprinting disorder caused by upd(14)pat and related conditions. (2015)
  • Author(s): Ogata T
  • Organizer: The 2nd European Imprinting Disorder School COST Action.
  • Place of Presentation: Guermantes, France.
  • Year and Date: 2015-05-04
  • Int'l Joint Research / Invited
• [Presentation] カルシウム感知受容体のシグナル伝達異常と疾患 (2015)
  • Author(s): 藤澤 泰子、緒方 勤
  • Organizer: 第88回日本内分泌学会学術総会
  • Place of Presentation: 東京
  • Year and Date: 2015-04-24
• [Presentation] 日本人小児腹囲パーセンタイル曲線の作成および国際糖尿病連合基準による小児メタボリックシンドロームのスクリーニングへの応用 (2015)
  • Author(s): 松下 理恵、磯島 豪、高谷 竜三、佐竹栄一郎、橘田 一輝、永田 絵子、佐野伸一朗、山口 理恵、中西 俊樹、中川 祐一、大関 武彦、緒方 勤、藤澤 泰子
  • Organizer: 第88回日本内分泌学会学術総会
  • Place of Presentation: 東京
  • Year and Date: 2015-04-24
• [Presentation] 分子遺伝学的診断に基づく偽性副甲状腺機能低下 (2015)
  • Author(s): 佐野伸一朗、松原 圭子、中村 明枝、深見 真紀、緒方 勤
  • Organizer: 第88回日本内分泌学会学術総会
  • Place of Presentation: 東京
  • Year and Date: 2015-04-24
• [Presentation] CDKN1C重複は半身低形成のないシルバーラッセ ル症候群サブタイプを招く (2015)
  • Author(s): 中島 信一、加藤芙弥子、古庄 知己、長崎 啓祐、菊池 透、鏡 雅代、深見 真紀、緒方 勤
  • Organizer: 第88回日本内分泌学会学術総会
  • Place of Presentation: 東京
  • Year and Date: 2015-04-24
• [Presentation] 軟骨毛髪低形成症姉弟例におけるRMRP新規変異 の同定 (2015)
  • Author(s): 小野 裕之、山口 理恵、松下 理恵、藤澤 泰子、中西 俊樹、西村 玄、緒方 勤
  • Organizer: 第88回日本内分泌学会学術総会
  • Place of Presentation: 東京
  • Year and Date: 2015-04-24
• [Presentation] ヒト性分化疾患の網羅的遺伝子変異解析 (2015)
  • Author(s): 五十嵐麻希、今 雅史、泉 陽子、福井由宇子、鈴木江莉奈、和田 友香、宮戸 真美、緒方 勤、深見 真紀
  • Organizer: 第88回日本内分泌学会学術総会
  • Place of Presentation: 東京
  • Year and Date: 2015-04-24
• [Presentation] 小児期発症内分泌疾患の移行期医 (2015)
  • Author(s): 位田 忍、井原 健二、鬼形 和道、菊池 信行、難波 範行、長谷川行洋、横谷 進、大薗 恵一、緒方 勤
  • Organizer: 第88回日本内分泌学会学術総会
  • Place of Presentation: 東京
  • Year and Date: 2015-04-24
• [Presentation] FGFR1遺伝子異常を認めた裂手裂足症と低ゴナド (2015)
  • Author(s): 大高幸之助、矢ケ崎英晃、三好 達也、長谷川行洋、長谷川奉延、三好 秀明、渥美 達也、佐藤 直子、瀬尾 美鈴、深見 真紀、緒方 勤
  • Organizer: 第88回日本内分泌学会学術総会
  • Place of Presentation: 東京
  • Year and Date: 2015-04-24
• [Presentation] FGFR1 変異が同定された裂手裂足症に低ゴナドトロピン性性腺機能 低下症を伴う 3 例 (2015)
  • Author(s): 大高幸之助、矢ケ崎英晃、三好達也、長谷川行洋、長谷川奉延、三好秀明、渥美達也、深見真紀、緒方勤
  • Organizer: 第118回日本小児科学会学術集会
  • Place of Presentation: 大阪
  • Year and Date: 2015-04-17
• [Presentation] SRY（＋）46,XX 精巣性性分化疾患の性分化決定因子と転座発症機序の 解析 (2015)
  • Author(s): 小野 裕之、中島信一、大石彰、高田史男、河村秀樹、五十嵐麻紀、深見真紀、緒方勤
  • Organizer: 第118回日本小児科学会学術集会
  • Place of Presentation: 大阪
  • Year and Date: 2015-04-17
• [Presentation] BHLHA9 を含む日本人創始者コピー数増加は四肢形成不全発症の感 受性因子である (2015)
  • Author(s): 永田 絵子、鹿野 博亀、加藤 芙弥子、中島 信一、山口 理恵、佐野 伸一朗、高田 修治、深見 真紀、池川 志郎、緒方 勤
  • Organizer: 第118回日本小児科学会学術集会
  • Place of Presentation: 大阪
  • Year and Date: 2015-04-17
• [Presentation] Human Imprinting Disorders. Lanchoen EducationSeminar. (2015)
  • Author(s): Ogata T
  • Organizer: Joint Meeting of the 11th Congress ASPR (Pediatric Academic Societies and Asian Society for Pediatric Research) and the Japan Pediatric Society 2015
  • Place of Presentation: Osaka, Japan
  • Year and Date: 2015-04-16
  • Int'l Joint Research / Invited
• [Presentation] 四肢・指趾形成不全（裂手裂足症）の原因について (2015)
  • Author(s): 緒方勤
  • Organizer: 先天性四肢障害児父母の会とHand&Foot患者会合同開催
  • Place of Presentation: 東京
  • Year and Date: 2015-04-11
  • Invited
• [Presentation] Environmental Impacts on Male Sexual Differentiation. In: Symposium Global Human Exposure to Endocrine Disrupting Chemicals. (2014)
  • Author(s): Ogata T
  • Organizer: 16th International Congress of Endocrinology & the Endocrine Society’s 96th Annual Meeting & Expo.
  • Place of Presentation: シカゴ（アメリカ）
  • Year and Date: 2014-06-21 – 2014-06-24
  • Invited
• [Presentation] わかりやすい臨床遺伝学 (2014)
  • Author(s): 緒方 勤
  • Organizer: 第9回日本小児耳鼻咽喉科学会
  • Place of Presentation: 浜松
  • Year and Date: 2014-06-06 – 2014-06-07
  • Invited
• [Presentation] インプリンティング疾患発症機序について (2014)
  • Author(s): 緒方 勤
  • Organizer: 第56回小児神経学会
  • Place of Presentation: 浜松
  • Year and Date: 2014-05-29 – 2014-05-31
  • Invited
• [Presentation] Genetics of DSD (Disorders of sex development). Plenary Lecture. (2014)
  • Author(s): Ogata T
  • Organizer: PAS/ASPR (Pediatric Academic Societies and Asian Society for Pediatric Research)
  • Place of Presentation: バンクーバー（カナダ）
  • Year and Date: 2014-05-03 – 2014-05-06
  • Invited
• [Presentation] インプリンティング機構と胎児・胎盤の成長 (2014)
  • Author(s): 緒方 勤
  • Organizer: 第87回日本内分泌学会学術総会シンポジウム
  • Place of Presentation: 福岡
  • Year and Date: 2014-04-24 – 2014-04-26
  • Invited
• [Presentation] Genetics of Combined Pituitary Hormone Deficiency. In: Symposium, Neuroendocrinology, Novel Players in Pituitary Disorders. 2013 Seoul International Congress of Endocrinology and Metabolism (2013)
  • Author(s): Ogata T
  • Organizer: In conjunction with the 32nd Annual Meeting of the Korean Endocrine Society.
  • Place of Presentation: Seoul, South Korea
  • Invited
• [Presentation] Genetic advances in DSD. (2013)
  • Author(s): Ogata T
  • Organizer: The Joint Summer School for Pediatric Endocrinology.
  • Place of Presentation: Lake Maggiore, Italy
  • Invited
• [Presentation] 脳の性分化に関する最近の知見． (2013)
  • Author(s): 緒方勤
  • Organizer: 第22回日本小児泌尿器科学会教育講演
  • Place of Presentation: 東京ビックサイトTFTホール（東京都江東区）
  • Invited
• [Presentation] 性分化疾患の発症機序：最新の知見 (2013)
  • Author(s): 緒方勤
  • Organizer: 日本アンドロロジー学会第32回学術大会・第19回精子形成・精巣毒性研究会共同開催学会特別講演
  • Place of Presentation: グランキューブ大阪（大阪府大阪市）
  • Invited
• [Presentation] 生殖補助医療と小児医療の接点 (2013)
  • Author(s): 緒方勤
  • Organizer: オーバービュー．第116回日本小児科学会学術集会：生殖補助医療と小児医療の接点
  • Place of Presentation: 広島
  • Invited
• [Presentation] 先天性副腎ステロイド合成異常症 (2013)
  • Author(s): 緒方勤
  • Organizer: シンポジウム：ステロイドホルモン研究Update．第86回日本内分泌学会学術集会．
  • Place of Presentation: 仙台
  • Invited
• [Presentation] インプリンティング疾患の遺伝子診断 (2013)
  • Author(s): 緒方勤
  • Organizer: 第14染色体父性ダイソミー表現型をモデルとして．シンポジウム：単因子疾患の遺伝子診療．第20回日本遺伝子診療学会
  • Place of Presentation: 浜松
  • Invited
• [Presentation] 生殖補助医療とインプリンティング疾患発症 (2013)
  • Author(s): 緒方勤
  • Organizer: シンポジウム：疾患から見たARTとエピゲノム．第31回日本受精着床学会学術集会
  • Place of Presentation: 別府
  • Invited
• [Book] 外性器と脳の性分化のメカニズム．有阪治（編）ビギナーのための小児内分泌診療ガイド (2014)
  • Author(s): 緒方勤
  • Publisher: 中山書店
• [Book] Turner症候群．吉川史隆，倉智博久，平松祐司（編）産婦人科疾患最新の治療2013-2015． (2013)
  • Author(s): 緒方勤
  • Publisher: 南江堂
• [Book] 性分化の分子生物学．吉田修（監），小川修、岡田裕作、荒井陽一、寺地敏郎、松田公志、筧義行、羽渕友則（編）ベッドサイド泌尿器科学 改定第4版 (2013)
  • Author(s): 緒方勤
  • Publisher: 南江堂
• [Book] ヌーナン症候群．横谷進（編）成長障害のマネジメント 改定第3版 (2013)
  • Author(s): 緒方勤
  • Publisher: 医薬ジャーナル社
• [Remarks] 浜松医大小児科ホームページ
  • URL: http://www2.hama-med.ac.jp/w1b/pediatr/patient/index.html
• [Remarks] 国立成育医療研究センター分子内分泌研究部ホームページ
  • URL: https://www.ncchd.go.jp/scholar/research/section/endocrinology/index.html
• [Remarks] 浜松医大小児科
  • URL: http://www2.hama-med.ac.jp/w1b/pediatr/patient/index.html
• [Remarks] 国立成育医療研究センター内分泌研究部
  • URL: http://www.nch.go.jp/endocrinology/index.htm