ヒトインプリンティング疾患発症を招く（エピ）遺伝学的機序の解明

2015 Fiscal Year Annual Research Report

• Project/Area Number: 25253023
• Research Institution: Hamamatsu University School of Medicine
• Principal Investigator: 緒方 勤 浜松医科大学, 医学部, 教授 (40169173)
• Co-Investigator(Kenkyū-buntansha): 鏡 雅代 国立研究開発法人国立成育医療研究センター, その他部局等, その他 (70399484)
• Project Period (FY): 2013-04-01 – 2016-03-31
• Keywords: インプリンティング / エピジェネティクス / ヒト疾患 / 発症機序 / メチル化 / エピ変異 / iPS細胞

Outline of Annual Research Achievements

(1) Kagami-Ogata症候群 (KOS14) の臨床診断基準と遺伝子診断法の確定：第14染色体父性ダイソミー関連疾患であるKOS14に関する現在までの臨床的および基礎的知見をまとめ、本症候群の臨床診断基準と遺伝子診断法を確立した。(2) Temple症候群 (TS14) の発症機序と臨床像の解明：第14染色体母性ダイソミー関連疾患であるTS14を約20例において同定し、その発症機序と臨床像を明らかとした。この患者数は世界最大であり、TS14の疾患概念確立に大きく貢献すると考えられる。(3) KOS14およびTS14患者を用いたエピ変異発症機序の解明：われわれは、エピ変異で発症したKOS患者とTS患者、ならびに健常者の末梢血におけるメチル化解析から、全ての患者のエピ変異領域と健常者のDMR領域がほぼ等しいことを見出した（MEG3-DMRがより明瞭なDMRとして存在する）。これは、エピ変異がIG-DMRおよびMEG3-DMRの両端におけるinsulator構築の異常に起因する可能性を示唆する。また、iPS細胞を樹立した。(4) Prader-Willi症候群 (PWS) と生殖補助医療の関連性の検討：本症候群患者117例の検討により、第15染色体母性ダイソミーによるPWSは、生殖補助医療出生児において自然妊娠出生児よりも有意に高頻度であるが、これは、高齢出産という交絡因子で説明され、生殖補助医療特有の因子の関与は見いだされないことを示した。(5) 女児優位の複数のインプリンティング疾患発症：われわれは、高度のエピ変異によるBeckwith-Wiedemann症候群 (BWS) と偽性副甲状腺機能低下症を有する女児を見出し、さらに徹底的な文献検索を共に、その理由として、女児におけるX染色体不活化に伴うメチル化維持酵素の消費が挙げられることを世界で初めて明らかとした。

Research Progress Status

27年度が最終年度であるため、記入しない。

Strategy for Future Research Activity

27年度が最終年度であるため、記入しない。

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 Pages: 614-619
  • DOI: 10.1111/cge.12691. 2015
  • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Combined steroidogenic ccharacters 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 / 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 Pages: 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 Pages: 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 Pages: 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 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 Pages: 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 F, Garcia S, Ogata T, Kawame H, Kurosawa K, Ohashi H, Inoue S, Matsubara Y, Kure S, Aoki Y
  • Journal Title: Hum Genet Volume: 135 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. Epub 2016 Feb 10.
  • 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 Pages: 未定
  • DOI: 10.1038/jhg.2016.18
  • 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 Pages: 未定
  • 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): Azuma N, Yokoi T, Nishina S, Fukami M, Ogata T, Hosono K, Hotta Y.
  • Journal Title: Hum Genome Variat Volume: 3 Pages: 15052
  • DOI: 10.1038/hgv.2015.52. eCollection 2016
  • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
• [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 Pages: 未定
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Kagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region. (2016)
  • Author(s): Ogata T, Kagami M
  • Journal Title: J Hum Genet Volume: 61 Pages: 87-94
  • DOI: doi: 10.1038/jhg.2015.113.
  • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
• [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 Pages: 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] Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver-Russell syndrome-compatible phenotype. (2015)
  • Author(s): Kagami M, Mizuno S, Matsubara K, Nakabayashi K, Sano S, Fuke T, Fukami M, Ogata T
  • Journal Title: Eur J Hum Genet Volume: 23 Pages: 1488-1498
  • DOI: 10.1038/ejhg.2014.234
  • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
• [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 Pages: 91-95
  • DOI: 10.1038/jhg.2014.100.
  • Peer Reviewed / 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 Pages: 1488-1498
  • DOI: 10.1038/ejhg.2015.13
  • Peer Reviewed / Open Access / Int'l Joint Research / 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: Endocr J Volume: 62 Pages: 523-529
  • DOI: 10.1507/endocrj.EJ15-0033.
  • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
• [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 Epigenet Volume: 7 Pages: 90
  • DOI: 10.1186/s13148-015-0124-y
  • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Hypogonadotropic hypogonadism in a female patient previously diagnosed as having Waardenburg syndrome due to a SOX10 mutation. (2015)
  • 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: 49 Pages: 553-556
  • DOI: 10.1007/s12020-014-0434-4.
  • Peer Reviewed / 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 Pages: 127-131
  • DOI: 10.1038/jhg.2014.115. Epub 2015 Jan 8.
  • Peer Reviewed / Int'l Joint Research
• [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: 60 Pages: 175-182
  • DOI: 10.1038/jhg.2014.124. Epub 2015 Jan 22.
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Novel splice site mutation in MAMLD1 in a patient with hypospadias. (2015)
  • Author(s): Igarashi M, Wada Y, Kojima Y, Miyado M, Nakamura M, Muroya K, Mizuno K, Hayashi Y, Nonomura K, Jofri K, Ogata T, Fukami M
  • Journal Title: Sex Dev Volume: 9 Pages: 130-135
  • DOI: 10.1159/000380842. 2015.
  • Peer Reviewed / Int'l Joint Research
• [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: 9 Pages: 125-129
  • DOI: 10.1159/000377653.
  • Peer Reviewed / Int'l Joint Research
• [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 Pages: 15020
  • DOI: 10.1038/hgv.2015.20. 2015.
  • 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 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: Horm Res Paediatr Volume: 87 Pages: 212-216
  • DOI: 10.1159/000436965
  • Peer Reviewed / Int'l Joint Research
• [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 Pages: E1378-1385
  • DOI: 10.1210/jc.2015-2262. Epub 2015 Jul 24.
  • 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, Ohtaka K, Fujisawa Y, Fukami M, Nishimura G, Ogata T
  • Journal Title: Am J Med Genet A Volume: 167 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 Pages: 305-310
  • DOI: 10.1159/000439234
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Parturition failure in mice lacking Mamld1 (2015)
  • Author(s): 22.Miyado M, Miyado K, Shihara D, Saito K, Katsumi M, Nakamura A, Ogata T, Fukam M
  • Journal Title: Sci Rep Volume: 5 Pages: 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 Pages: 337-340
  • DOI: 10.1016/j.braindev.2015.09.006.
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Testicular dysgenesis/regression without campomelic dysplasia in patients carrying 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, Fukami M
  • Journal Title: Mol Genet Genomic Med Volume: 3 Pages: 550-557
  • DOI: 10.1002/mgg3.165. eCollection 2015.
  • Peer Reviewed / 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. (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: 15 Pages: 1121
  • DOI: 10.1186/s12889-015-2447-1
  • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
• [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
  • 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
  • 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
• [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 – 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 – 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 – 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 – 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 – 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 – 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 – 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 – 2015-10-17
  • 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 – 2015-10-03
  • 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 – 2015-10-03
  • 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 – 2015-08-23
  • 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 – 2015-05-06
  • 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 – 2015-04-26
• [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 – 2015-04-26
• [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 – 2015-04-26
• [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 – 2015-04-26
• [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 – 2015-04-26
• [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 – 2015-04-26
• [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 – 2015-04-26
• [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 – 2015-04-26
• [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 – 2015-04-19
• [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 – 2015-04-19
• [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 – 2015-04-19
• [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 – 2015-04-19
  • 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 – 2015-04-11
  • Invited
• [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