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Clarification of (epi)genetic causes leading to the development of human imprinting disorders

Research Project

Project/Area Number 22249010
Research Category

Grant-in-Aid for Scientific Research (A)

Allocation TypeSingle-year Grants
Section一般
Research Field Human genetics
Research InstitutionHamamatsu University School of Medicine (2011-2012)
National Research Institute for Child Health and Development (2010)

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)
NAKABAYASHI Kazuhiko  (独)国立成育医療研究センター研究所, 周産期病態研究部, 室長 (10415557)
Project Period (FY) 2010 – 2012
Project Status Completed (Fiscal Year 2012)
Budget Amount *help
¥48,750,000 (Direct Cost: ¥37,500,000、Indirect Cost: ¥11,250,000)
Fiscal Year 2012: ¥13,910,000 (Direct Cost: ¥10,700,000、Indirect Cost: ¥3,210,000)
Fiscal Year 2011: ¥13,910,000 (Direct Cost: ¥10,700,000、Indirect Cost: ¥3,210,000)
Fiscal Year 2010: ¥20,930,000 (Direct Cost: ¥16,100,000、Indirect Cost: ¥4,830,000)
Keywordsエピジェネティクス / インプリンティング / ヒト疾患 / メチル化可変領域 / 個体 / 胎盤 / 分子生物学的解析 / 生殖補助医療 / 高齢出産
Research Abstract

We have attempted to clarify underlying (epi)genetic mechanisms and clinical characteristics in human imprinting disorders. Representative results in uniparental disomy for chromosome 14 (upd(14)pat) and its related disorders include:
(1) clarification of underlying causes and establishment of molecular approaches;
(2) risk assessment of the advanced maternal childbearing age in the development of monosomy-rescue type upd(14)pat;
(3) identification of the imprinting centers in the body and the placenta and that of the most causative gene in the phenotypic development;
(4) repressor effects of maternally expressed RTL1as-encoded microRNAs on the paternally expressed RTL1 expression;
(5) clarification of the characteristics of the placental histopathology;
and (6) establishment of radiological diagnostic clues.
Representative results in Prader-Willi syndrome (PWS) include:
(1) clarification of underlying causes and establishment of molecular approaches;
(2) risk assessment of the advanced maternal childbearing age in the development of trisomy-rescue type upd(15)mat;
and (3) risk assessment of the medially assisted reproduction in the development of PWS.
Representative results in Silver-Russell syndrome (SRS) include:
(1) clarification of underlying causes and establishment of molecular approaches;
and (2) establishment of detailed (epi)genotype-phenotype correlations.
Furthermore, we identified a parthenogenetic chimera and an androgentic mosaic. These findings will advance the human imprinting studies.

Report

(4 results)
  • 2012 Annual Research Report   Final Research Report ( PDF )
  • 2011 Annual Research Report
  • 2010 Annual Research Report
  • Research Products

    (109 results)

All 2013 2012 2011 2010 Other

All Journal Article (62 results) (of which Peer Reviewed: 45 results) Presentation (39 results) (of which Invited: 2 results) Book (1 results) Remarks (7 results)

  • [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

    • Related Report
      2012 Annual Research Report 2012 Final Research Report
    • 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

      Volume: accepted

    • NAID

      10031156746

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome2013

    • Author(s)
      T. Fuke, S. Mizuno, T. Nagai, T. Hasegawa, R. Horikawa, Y. Miyoshi, K. Muroya, T. Kondoh, C. Numakura, S. Sato, K. Nakabayashi, C. Tayama, K. Hata, S. Sano, K. Matsubara, M. Kagami, K. Yamazawa, T. Ogata
    • Journal Title

      PLoS. One

      Volume: 8 Issue: 3 Pages: e60105-e60105

    • DOI

      10.1371/journal.pone.0060105

    • Related Report
      2012 Annual Research Report
    • 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: accepted

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype2012

    • Author(s)
      Kagami M, Kato F, Matsubara K, Sato T, Nishimura G, Ogata T*
    • Journal Title

      Eur J Hum Genet20

      Volume: 9 Pages: 928-932

    • Related Report
      2012 Final Research Report
  • [Journal Article] Mosaic upd(7)mat in a patient with Silver-Russell syndrome: correlation between phenotype and mosaic ratio in the body and the placenta2012

    • Author(s)
      Fuke-Sato T, Yamazawa K, Nakabayashi K, Matsubara K, Matsuoka K, Hasegawa T, Dobashi K, Ogata T*
    • Journal Title

      Am J Med Genet A158A

      Volume: 2 Pages: 465-468

    • Related Report
      2012 Final Research Report
  • [Journal Article] Characterization of DNA methylation errors in patients with imprinting disorders conceived by assisted reproduction technologies2012

    • Author(s)
      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*
    • Journal Title

      Hum Reprod 27

      Volume: 8 Pages: 2541-2548

    • Related Report
      2012 Final Research Report
  • [Journal Article] Paternal uniparental disomy 14 and related disorders: placental gene expression analyses and histological examinations2012

    • Author(s)
      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*
    • Journal Title

      Epigenetics 7

      Volume: 10 Pages: 1142-1150

    • Related Report
      2012 Final Research Report
  • [Journal Article] Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype2012

    • Author(s)
      Kagami M, Ogata T, et al
    • Journal Title

      Eur J Hum Genet

      Volume: (accepted)(Epub ahead of print) Issue: 9 Pages: 928-932

    • DOI

      10.1038/ejhg.2012.26

    • Related Report
      2012 Annual Research Report 2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Mosaic upd(7)mat in a patient with Silver-Russell syndrome: correlation between phenotype and mosaic ratio in the body and the placenta.2012

    • Author(s)
      Fuke-Sato T, Yamazawa K, Nakabayashi K, Matsubara K, Matsuoka K, Hasegawa T, Dobashi K, Ogata T*
    • Journal Title

      Am J Med Genet A

      Volume: 158A (2) Pages: 465-468

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Characterization of DNA methylation errors in patients with imprinting disorders conceived by assisted reproduction technologies.2012

    • Author(s)
      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*
    • Journal Title

      Hum Reprod

      Volume: 27 (8) Pages: 2541-2548

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Paternal uniparental disomy 14 and related disorders: placental gene expression analyses and histological examinations.2012

    • Author(s)
      M. Kagam, K. Matsuoka, T. Nagai, M. Yamanaka, K. Kurosawa, N. Suzumori, Y. Sekita, M. Miyado, K. Matsubara, T. Fuke, F. Kato, M. Fukami, T. Ogata.
    • Journal Title

      Epigenetics

      Volume: 7 Issue: 10 Pages: 1142-1150

    • DOI

      10.4161/epi.21937

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] ARTにおけるインプリンティング異常2012

    • Author(s)
      緒方勤
    • Journal Title

      Medical Science Digest

      Volume: 38 (6) Pages: 249-252

    • Related Report
      2012 Annual Research Report
  • [Journal Article] 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 deficiency2012

    • Author(s)
      Inoue H, Ogata T, et al
    • Journal Title

      Clin Endocrinol

      Volume: 76(1) Pages: 78-87

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Genetic characteristics on HLA-cass II and class I among Japanese type 1A and type 1B diabetic children and their families2012

    • Author(s)
      Sugihara S, Ogata T, et al
    • Journal Title

      Pediatr Diabetes

      Volume: 13(1) Pages: 33-44

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Mosaic upd(7)mat in a patient with Silver-Russell syndrome : correlation between phenotype and mosaic ratio in the body and the placenta2012

    • Author(s)
      Fuke-Sato T, Ogata T, et al
    • Journal Title

      Am J Med Genet A

      Volume: 158A(2) Pages: 465-8

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan2012

    • Author(s)
      Abe Y, Aoki Y, Ogata T, et al
    • Journal Title

      Am J Med Genet A

      Volume: (accepted)(Epub ahead of print) Issue: 5 Pages: 1083-1094

    • DOI

      10.1002/ajmg.a.35292

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Two-step biochemical differential diagnosis of classical 21-hydroxylase deficiency and cytochrome P450 oxidoreductase deficiency in Japanese infants using uUrinary Pregnanetriolone/Tetrahydroxycortisone Ratio and 11β-hydroxyandrosterone by Gas chromatography-mass spectrometry2012

    • Author(s)
      Koyama Y, Ogata T, et al
    • Journal Title

      Clin Chem

      Volume: 58(4) Pages: 741-7

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Screening of MAMLD1 mutations in 70 children with 46, XY DSD : Identification and functional analysis of 2 new mutations2012

    • Author(s)
      Kalfa N, Ogata T, et al
    • Journal Title

      PLoS ONE

      Volume: 7(3)

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Androgenetic/biparental mosaicism in a girl with Beckwith-Wiedemann syndrome-like and upd(14)pat-like phenotypes2011

    • Author(s)
      Yamazawa K, Nakabayashi K, Matsuoka K, Matsubara K, Hata K, Horikawa R, Ogata T*
    • Journal Title

      J Hum Genet56

      Volume: 1 Pages: 91-93

    • NAID

      10030657597

    • Related Report
      2012 Final Research Report
  • [Journal Article] Radiological evaluation of dysmorphic thorax in paternal uniparental disomy for chromosome 142011

    • Author(s)
      Miyazaki O*, Nishimura G, Kagami M, Ogata T
    • Journal Title

      Ped Radiol41

      Volume: 8 Pages: 1013-1019

    • Related Report
      2012 Final Research Report
  • [Journal Article] Maternal age effect on the developmentof Prader-Willi syndrome resulting from upd(15)mat through meiosis 1 errors2011

    • Author(s)
      Matsubara K, Murakami N, Nagai T, Ogata T*
    • Journal Title

      J Hum Genet 56

      Volume: 8 Pages: 566-71

    • Related Report
      2012 Final Research Report
  • [Journal Article] Methylation screening of reciprocal genome-wide UPDs identifies novel human specific imprinted genes2011

    • Author(s)
      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
    • Journal Title

      Hum Mol Genet20

      Volume: 16 Pages: 3188-97

    • Related Report
      2012 Final Research Report
  • [Journal Article] Advanced maternal age and the development of Prader-Willi syndrome resulting from upd(15)mat through non-disjunction at meiosis 12011

    • Author(s)
      Ogata T*, Matsubara K, Nagata E, Sano S, Murakami N, Nagai T
    • Journal Title

      J Mamm Ova Res28

      Volume: 3 Pages: 96-102

    • NAID

      10029898301

    • Related Report
      2012 Final Research Report
  • [Journal Article] Identification and functional analysis of novel human growth hormone-releasing honnone receptor (GHRHR) gene mutations in Japanese subjects with short stature2011

    • Author(s)
      Inoue H, Ogata T, et al
    • Journal Title

      Clin Endocrinol

      Volume: 74(2) Pages: 223-233

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Androgenetic/biparental mosaicism in a girl with Beckwith-Wiedemann syndrome-like and upd (14) pat-like phenotypes2011

    • Author(s)
      Yamazawa K, Ogata T, et al
    • Journal Title

      J Hum Genet

      Volume: 56(1) Pages: 91-93

    • NAID

      10030657597

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Identification and functional analysis of novel human growth hormone secretagogue receptor (GHSR) gene mutations in Japanese subjects with short stature2011

    • Author(s)
      Inoue H, Ogata T, et al
    • Journal Title

      J Clin Endocrinol Metab

      Volume: 96(2)

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] GATA3 abnormalities in six patients with HDR syndrome2011

    • Author(s)
      Fukami M, Ogata T, et al
    • Journal Title

      Endocr J

      Volume: 58(2) Pages: 117-121

    • NAID

      10029587700

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Identification of chromosome 15q terminal deletion with telomere sequences and its bearing on genotype-phenotype analysis2011

    • Author(s)
      Dateki S, Ogata T, et al
    • Journal Title

      Endocr J

      Volume: 58(3) Pages: 155-159

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] MAMLD1 (Mastermind-Like Domain Containing 1) Homozygous Gain-of-Function Missense Mutation Causing 46,XX Disorder of Sex Development in a Virilized Female2011

    • Author(s)
      Brandao MP, Ogata T, et al
    • Journal Title

      Adv Exp Med Biol

      Volume: 707(10) Pages: 129-31

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Radiological evaluation of dysmorphic thorax in paternal uniparental disomy for chromosome 142011

    • Author(s)
      Miyazaki O, Ogata T, et al
    • Journal Title

      Ped Radiol

      Volume: 41(8) Pages: 1013-1019

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Aromatase excess syndrome : identification of cryptic duplications and deletions leading to gain-of-function of CYP19A1 and assessment of phenotypic determinants2011

    • Author(s)
      Fukami, M, Ogata T, et al
    • Journal Title

      J Clin Endocrinol Metab

      Volume: 96(6)

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Steroid 5α-reductase-2 deficiency and fertility2011

    • Author(s)
      Ogata T, Matsubara K
    • Journal Title

      Fertil Steril

      Volume: 95(7)

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Mamld1 knockdown reduces testosterone production and Cyp17al expression in mouse Leydig tumor cells2011

    • Author(s)
      Nakamura M, Ogata T, et al
    • Journal Title

      PLoS ONE

      Volume: 6(4)

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Maternal age effect on the development of Prader-Willi syndrome resulting from upd(15)mat through meiosis 1 errors2011

    • Author(s)
      Matsubara K, Ogata T, et al
    • Journal Title

      J Hum Genet

      Volume: 56(8) Pages: 566-71

    • NAID

      10030660380

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Methylation screening of reciprocal genome-wide UPDs identifies novel human specific imprinted genes2011

    • Author(s)
      Nakabayashi K, Ogata T, et al
    • Journal Title

      Hum Mol Genet

      Volume: 20(16) Pages: 3188-97

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Analysis of expression and structure of the rat GH secretagogue/ghrelin receptor (Ghsr) gene : roles of epigenetic modifications in transcriptional regulation2011

    • Author(s)
      Inoue H, Ogata T, et al
    • Journal Title

      Mol Cell Endocrinol

      Volume: 345 Pages: 1-15

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Proximal promoter of the cytochrome P450 oxidoreductase gene : identification of microdeletions involving the untranslated exon 1 and critical function of the SP1 binding site2011

    • Author(s)
      Soneda S, Ogata T, et al
    • Journal Title

      J Clin Endocrinol Metab

      Volume: 96(11)

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Number of CGG repeats in the FMR1 gene of Japanese patients with primary ovanan insufficiency2011

    • Author(s)
      Ishizuka B, Ogata T, et al
    • Journal Title

      Fertil Steril

      Volume: 96(5) Pages: 1170-1174

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Association of primary ovarian insufficiency with a specific HLA haplotype (A*24:02-C*03:03-B*35:01) in Japanese patients2011

    • Author(s)
      Ayabe T, Ogata T, et al
    • Journal Title

      Sex Dev

      Volume: 5(5) Pages: 235-240

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Polymorphisms of MAMLD1 gene in hypospadias2011

    • Author(s)
      Kalfa N, Ogata T, et al
    • Journal Title

      J Pediatr Urol

      Volume: 7(6) Pages: 585-591

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Advanced maternal age and the development of Prader-Willi syndrome resulting from upd(15)mat through non-disjunction at meiosis 12011

    • Author(s)
      Ogata T, Matsubara K, et al
    • Journal Title

      J Mamm Ova Res

      Volume: 28(3) Pages: 96-102

    • NAID

      10029898301

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] The IG-DMR and the MEG3-DMR at human chromosome 14q32.2: hierarchical interaction and distinct functional properties as imprinting control centers2010

    • Author(s)
      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*
    • Journal Title

      PLoS Genet6

      Volume: 6

    • Related Report
      2012 Final Research Report
  • [Journal Article] Parthenogenetic chimaerism/mosaicism with a Silver-Russell Syndrome-like Phenotype2010

    • Author(s)
      Yamazawa K, Nakabayashi K, Kagami M,Sato T, Saitoh S, Horikawa R, Hizuka N, Ogata T*
    • Journal Title

      J Med Genet47

      Volume: 11 Pages: 782-785

    • Related Report
      2012 Final Research Report
  • [Journal Article] Prenatal diagnosis of paternal uniparental disomy 14:delineation of further patient2010

    • Author(s)
      Suzumori N*, Ogata T, Mizutani E, Hattori Y, Matsubara K, Kagami M, Suguhara-Ogasawara M
    • Journal Title

      Am J Med Genet A152A

      Volume: 12 Pages: 3189-3192

    • Related Report
      2012 Final Research Report
  • [Journal Article] Uniparental disomy and human disease: an overview2010

    • Author(s)
      Yamazawa K, Ogata T, Ferguson-Smith AC*
    • Journal Title

      Am J Med Genet C(Seminars in Medical Genetics) 154C

      Volume: 3 Pages: 329-334

    • Related Report
      2012 Final Research Report
  • [Journal Article] The IG-DMR and the MEG3-DMR at human chromosome 14q32.2 : hierarchical interaction and distinct functional properties as imprinting control centers2010

    • Author(s)
      Kagami M, Ogata T, 他
    • Journal Title

      PLoS Genet

      Volume: 6(6)

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Parthenogenetic chimaerism/mosaicism with a Silver-Russell Syndrome-like Phenotype2010

    • Author(s)
      Yamazawa K, Nakabayashi K, Kagami M, Ogata T, 他
    • Journal Title

      J Med Genet

      Volume: 47(11) Pages: 782-785

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Androgenetic/biparental mosaicism in a girl with Beckwith-Wiedemann syndrome-like and upd (14) pat-like phenotypes2010

    • Author(s)
      Yamazawa K, Nakabayashi K, Ogata T, 他
    • Journal Title

      J Hum Genet

      Volume: 56(1) Pages: 91-93

    • NAID

      10030657597

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Prenatal diagnosis of paternal uniparental disomy 14 : delineation of further patient2010

    • Author(s)
      Suzumori N, Ogata T, 他
    • Journal Title

      Am J Med Genet A

      Volume: 152A(12) Pages: 3189-3192

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Radiological evaluation of dysmorphic thorax in paternal uniparental disomy for chromosome 142010

    • Author(s)
      Miyazaki O, Nishimura G, Kagami M, Ogata T
    • Journal Title

      Ped Radiol

      Volume: (Accepted)

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 成長ホルモン分泌不全を来し、H19-DMRの低メチル化を認めたSilver-Russell症候群の1例2010

    • Author(s)
      勝島由利子、山澤一樹、緒方勤、勝島史夫
    • Journal Title

      ホルモンと臨

      Volume: 58(Accepted)

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 生殖補助医療とインプリンティング異常2010

    • Author(s)
      緒方勤
    • Journal Title

      Horm Front Gynecol

      Pages: 361-368

    • NAID

      10020355007

    • Related Report
      2010 Annual Research Report
  • [Journal Article] Neuromuscular symptoms in a patient with familial pseudohypoparathyroidism type Ib diagnosed by methylation-specific multiplex ligation-dependent probe amplification

    • Author(s)
      Nagasaki K*, Tsuchuya S, Saitoh A, Ogata T, Fukami M
    • Journal Title

      Endocr J (accepted)

    • NAID

      10031156746

    • Related Report
      2012 Final Research Report
  • [Journal Article] Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome

    • 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, Tamazawa K, Ogata T*
    • Journal Title

      PLoS One (accepted)

    • Related Report
      2012 Final Research Report
  • [Journal Article] 46, XY gonadal dysgenesis : new SRY point mutation in two siblings with paternal germ line mosaicism

    • Author(s)
      Stoppa-Vaucher S, Ogata T, et al
    • Journal Title

      Clin Genet

      Volume: (in press)

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Polymorphisms of MAMLD1 gene in bypospadias

    • Author(s)
      Kalfa N, Ogata T, et al
    • Journal Title

      J Pediatr Urol

      Volume: 7(6) Pages: 585-91

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Association between fetal myocardial tissue Doppler indices before birth and gestational age-specific birth weight in low-risk term pregnancies

    • Author(s)
      Sekii K, Ogata T, et al
    • Journal Title

      Ultrasound Obstet Gynecol

      Volume: (accepted)

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Complex genomic rearrangements in the SOX95' region in a patient with Pierre Robin sequence and hypoplastic left scapula

    • Author(s)
      Fukami M, Ogatata T, et al
    • Journal Title

      Am J Med Genet A

      Volume: (accepted)

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Haplotype analysis of ESR2 in Japanese patients with spermatogenic failure : Implications for genetic susceptibility to estrogenic environmental endocrine disruptors

    • Author(s)
      Ogata T, Fukami M, et al
    • Journal Title

      Int J Androl

      Volume: (accepted)

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Molecular bases and phenotypic determinants of aromatase excess syndrome

    • Author(s)
      Fukami M, Shozu M, Ogata T
    • Journal Title

      Int J Endocrinol

      Volume: (accepted)

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] MAMLD1 and 46, XY disorders of sex development

    • Author(s)
      Ogata T, Sano S, et al
    • Journal Title

      Seminars in Reproductive Medicine

      Volume: (accepted)

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Presentation] 性とインプリンティング2013

    • Author(s)
      緒方勤
    • Organizer
      新学術領域研究「配偶子幹細胞制御機構」第7回領域会議特別講演
    • Place of Presentation
      東京
    • Related Report
      2012 Final Research Report
  • [Presentation] インプリンティング疾患研究アップデート2012

    • Author(s)
      緒方勤
    • Organizer
      第45回新潟小児内分泌懇話会
    • Place of Presentation
      新潟
    • Year and Date
      2012-06-08
    • Related Report
      2012 Final Research Report
  • [Presentation] 小児内分泌関連疾患におけるインプリンティングにかかわる最近の話題2012

    • Author(s)
      緒方勤
    • Organizer
      JCR研修会
    • Place of Presentation
      芦屋
    • Year and Date
      2012-02-17
    • Related Report
      2012 Final Research Report
  • [Presentation] ゲノムインプリンティングと個体・胎盤成長発達2012

    • Author(s)
      緒方勤
    • Organizer
      第42回九州小児内分泌懇話会
    • Place of Presentation
      福岡
    • Year and Date
      2012-02-04
    • Related Report
      2012 Final Research Report 2011 Annual Research Report
  • [Presentation] 生殖補助医療における遺伝的安全性の検討2012

    • Author(s)
      緒方勤
    • Organizer
      浜松市医師会生涯教育研修会
    • Place of Presentation
      浜松
    • Year and Date
      2012-01-26
    • Related Report
      2012 Final Research Report 2011 Annual Research Report
  • [Presentation] エピジェネティクスと小児成長発達2012

    • Author(s)
      緒方勤
    • Organizer
      第115回日本小児科学会学術集会教育講演
    • Place of Presentation
      福岡
    • Related Report
      2012 Final Research Report
  • [Presentation] エピジェネティクスと小児成長発達.2012

    • Author(s)
      緒方勤
    • Organizer
      第115回日本小児科学会学術集会教育講演
    • Place of Presentation
      福岡
    • Related Report
      2012 Annual Research Report
    • Invited
  • [Presentation] インプリンティング疾患研究アップデート2012

    • Author(s)
      緒方勤
    • Organizer
      第45回新潟小児内分泌懇話会.
    • Place of Presentation
      新潟
    • Related Report
      2012 Annual Research Report
    • Invited
  • [Presentation] ART in reproductive disorders2011

    • Author(s)
      Ogata T
    • Organizer
      FIGO Workshp
    • Place of Presentation
      Tokyo, Japan
    • Year and Date
      2011-12-08
    • Related Report
      2012 Final Research Report
  • [Presentation] ART in reproductive disorders. FIGO Workshp2011

    • Author(s)
      Ogata T
    • Organizer
      FIGO Workshp
    • Place of Presentation
      Tokyo, Japan
    • Year and Date
      2011-12-08
    • Related Report
      2011 Annual Research Report
  • [Presentation] 先天奇形症候群とゲノムインプリンティング2011

    • Author(s)
      緒方勤
    • Organizer
      第2回生殖医療研究会
    • Place of Presentation
      東京
    • Year and Date
      2011-11-05
    • Related Report
      2012 Final Research Report 2011 Annual Research Report
  • [Presentation] 第14染色体父性ダイソミー症候群の発症機序と出生前診断2011

    • Author(s)
      緒方勤
    • Organizer
      第18回遺伝性疾患に関する出生前診断研究会学術集会
    • Place of Presentation
      佐賀
    • Year and Date
      2011-10-01
    • Related Report
      2012 Final Research Report 2011 Annual Research Report
  • [Presentation] 胎児・胎盤発育とゲノムインプリンティング2011

    • Author(s)
      緒方勤
    • Organizer
      第5回新生児内分泌研究会学術集会
    • Place of Presentation
      東京
    • Year and Date
      2011-09-17
    • Related Report
      2012 Final Research Report 2011 Annual Research Report
  • [Presentation] Genetic susceptibility to endocrine disrupters: Estrogen receptor polymorphisms2011

    • Author(s)
      Ogata T
    • Organizer
      Hamamatsu DOHaD Conference
    • Place of Presentation
      Hamamatsu, Japan
    • Year and Date
      2011-07-08
    • Related Report
      2012 Final Research Report
  • [Presentation] 子どもの成長と成熟2011

    • Author(s)
      緒方勤
    • Organizer
      国際医療福祉大学熱海病院学術講演会
    • Place of Presentation
      熱海
    • Year and Date
      2011-07-01
    • Related Report
      2012 Final Research Report
  • [Presentation] 生殖補助医療におけるインプリンティング疾患発症について2011

    • Author(s)
      緒方勤
    • Organizer
      第18回セント・ルカセミナー
    • Place of Presentation
      大分
    • Year and Date
      2011-06-19
    • Related Report
      2012 Final Research Report 2011 Annual Research Report
  • [Presentation] SGA性低身長症の発症機序:インプリンティング疾患を主として2011

    • Author(s)
      緒方勤
    • Organizer
      第134回臨床小児研究会
    • Place of Presentation
      越谷
    • Year and Date
      2011-02-14
    • Related Report
      2012 Final Research Report
  • [Presentation] 親由来特異的遺伝子発現制御:ヒトインプリンティング疾患解析研究から2011

    • Author(s)
      緒方勤
    • Organizer
      第3回性差生物医学研究会
    • Place of Presentation
      福岡
    • Year and Date
      2011-01-16
    • Related Report
      2012 Final Research Report
  • [Presentation] 小児成長発達とゲノムインプリンティング2011

    • Author(s)
      緒方勤
    • Organizer
      第114回日本小児科学会学術集会特別講演
    • Place of Presentation
      東京
    • Related Report
      2012 Final Research Report 2011 Annual Research Report
  • [Presentation] 生殖補助医療における遺伝的安全性の検討:インプリンティング疾患を主として2011

    • Author(s)
      緒方勤
    • Organizer
      第14回日本IVF学会基礎教育講演
    • Place of Presentation
      東京
    • Related Report
      2012 Final Research Report 2011 Annual Research Report
  • [Presentation] シルバーラッセル症候群の分子遺伝的メカニズム2011

    • Author(s)
      緒方勤
    • Organizer
      第84回日本内分泌学会学術総会ミニシンポジウム:SGA性低身長をめぐって
    • Place of Presentation
      神戸
    • Related Report
      2012 Final Research Report 2011 Annual Research Report
  • [Presentation] 生殖補助医療におけるインプリンティング疾患発症リスクについて2011

    • Author(s)
      緒方勤
    • Organizer
      第56回日本生殖医学会総会教育講演:生殖医療の新たな展開-最終成果について考える
    • Place of Presentation
      東京
    • Related Report
      2012 Final Research Report
  • [Presentation] 生殖補助医療におけるインプリンティング疾患発症リスクについて2011

    • Author(s)
      緒方勤
    • Organizer
      第56回日本生殖医学会総会:生殖医療の新たな展開-最終成果について考える
    • Place of Presentation
      東京
    • Related Report
      2011 Annual Research Report
  • [Presentation] Prader-Willi Syndrome:Recent Progress. Invited Special Lecture2010

    • Author(s)
      Ogata T
    • Organizer
      The 8th Korean PWS (Prader-Willi syndrome) Symposium
    • Place of Presentation
      Seoul, Korea.
    • Year and Date
      2010-10-02
    • Related Report
      2012 Final Research Report
  • [Presentation] Prader-Willi Syndrome : Recent Progress.Invited Special Lecture.2010

    • Author(s)
      Ogata T
    • Organizer
      The 8th Korean PWS (Prader-Willi syndrome) Symposium
    • Place of Presentation
      Seoul, Korea
    • Year and Date
      2010-10-02
    • Related Report
      2010 Annual Research Report
  • [Presentation] 胎児成長発達とゲノムインプリンティング2010

    • Author(s)
      緒方勤
    • Organizer
      第13回胎児遺伝子診断研究会
    • Place of Presentation
      東京
    • Year and Date
      2010-02-20
    • Related Report
      2012 Final Research Report 2010 Annual Research Report
  • [Presentation] インプリンティング疾患の基礎と臨床2010

    • Author(s)
      緒方勤
    • Organizer
      両毛地区小児科講演会
    • Place of Presentation
      足利
    • Year and Date
      2010-01-18
    • Related Report
      2012 Final Research Report
  • [Presentation] Molecular and clinical analysis in Silver-Russell syndrome. In: Genetic Diagnosis and Treatment of SGA Short Children2010

    • Author(s)
      Yamazawa K, Ogata T
    • Organizer
      The 14th International Congress of Endocrinology
    • Place of Presentation
      Kyoto, Japan
    • Related Report
      2012 Final Research Report
  • [Presentation] SGA性低身長症の発症機序:インプリンティング疾患を主として2010

    • Author(s)
      緒方勤
    • Organizer
      SGA性低身長症の発症機序:インプリンティング疾患を主として
    • Place of Presentation
      大宮
    • Related Report
      2012 Final Research Report
  • [Presentation] ヒトインプリンティング疾患の発症機序2010

    • Author(s)
      緒方勤
    • Organizer
      第4回日本エピジェネティクス研究会大会学術集会
    • Place of Presentation
      米子
    • Related Report
      2012 Final Research Report
  • [Presentation] インプリンティング異常と胎盤2010

    • Author(s)
      松岡健太郎,中澤温,林聡,左合治彦,鏡雅代,緒方勤
    • Organizer
      第18回日本胎盤学会学術集会(第28回日本絨毛性疾患研究会と併催)ワークショップ基調講演:Placental Mesenchymal Dysplasia (PMD)とBeckwith-Wiedemann syndrome (BMD)
    • Place of Presentation
      熊本
    • Related Report
      2012 Final Research Report
  • [Presentation] エコチル調査における遺伝医学研究2010

    • Author(s)
      緒方勤
    • Organizer
      日本人類遺伝学会第55回大会シンポジウム:小児環境疫学(エコチル)調査と遺伝医学
    • Place of Presentation
      大宮
    • Related Report
      2012 Final Research Report
  • [Presentation] 生殖補助医療とインプリティグ異常2010

    • Author(s)
      緒方勤
    • Organizer
      日本人類遺伝学会第55回大会シンポジウム:臨床遺伝学のプロフェッショナルは、生殖補助医療-とくに着床前診断-にどうかかわればよいのか?
    • Place of Presentation
      大宮
    • Related Report
      2012 Final Research Report
  • [Presentation] Molecular and clinical analysis in Silver-Russell syndrome.In : Genetic Diagnosis and Treatment of SGA Short Children2010

    • Author(s)
      Yamazawa K, Ogata T
    • Organizer
      The 14th International Congress of Endocrinology
    • Place of Presentation
      Kyoto, Japan
    • Related Report
      2010 Annual Research Report
  • [Presentation] 身長を規定する遺伝子・ゲノム2010

    • Author(s)
      緒方勤
    • Organizer
      第83回日本内分泌学会学術総会教育講演
    • Place of Presentation
      京都
    • Related Report
      2010 Annual Research Report
  • [Presentation] SGA性低身長症の発症機序 : インプリンティング疾患を主として2010

    • Author(s)
      緒方勤
    • Organizer
      日本人類遺伝学会第55回大会共催セミナー
    • Place of Presentation
      大宮
    • Related Report
      2010 Annual Research Report
  • [Presentation] インプリンティング異常と胎盤2010

    • Author(s)
      松岡健太郎, 中澤温, 林聡, 左合治彦, 鏡雅代, 緒方勤
    • Organizer
      第18回日本胎盤学会学術集会(第28回日本絨毛性疾患研究会と併催)ワークショップ
    • Place of Presentation
      熊本 基調講演
    • Related Report
      2010 Annual Research Report
  • [Presentation] 生殖補助医療とインプリンティング異常2010

    • Author(s)
      緒方勤
    • Organizer
      日本人類遺伝学会第55回大会シンポジウム
    • Place of Presentation
      大宮
    • Related Report
      2010 Annual Research Report
  • [Presentation] ヒトインプリンティング疾患の発症機序2010

    • Author(s)
      緒方勤
    • Organizer
      第4回日本エピジェネティクス研究会大会
    • Place of Presentation
      米子
    • Related Report
      2010 Annual Research Report
  • [Book] Uniparental disomy and human disease : an overview.Am J Med Genet C(Seminars in Medical Genetics)2010

    • Author(s)
      Yamazawa K, Oeata T, Fergus on-Smith A C
    • Total Pages
      70
    • Publisher
      Wiley
    • Related Report
      2010 Annual Research Report
  • [Remarks]

    • URL

      http://www2.hama-med.ac.jp/w1b/pediatr/patient/index.html

    • Related Report
      2012 Final Research Report
  • [Remarks]

    • URL

      http://www.nch.go.jp/endocrinology/index.htm

    • Related Report
      2012 Final Research Report
  • [Remarks] 浜松医科大学小児科

    • URL

      http://www2.hama-med.ac.jp/w1b/pediatr/patient/index.html

    • Related Report
      2012 Annual Research Report
  • [Remarks] 国立成育医療研究センター研究所分子内分泌研究部

    • URL

      http://www.nch.go.jp/endocrinology/index.htm

    • Related Report
      2012 Annual Research Report
  • [Remarks]

    • URL

      http://www2.hama-med.ac.jp/wlb/pediatr/patient/index.html

    • Related Report
      2011 Annual Research Report
  • [Remarks]

    • URL

      http://www.nch.go.jp/endocrinology/index.htm

    • Related Report
      2011 Annual Research Report
  • [Remarks]

    • URL

      http://www.nch.go.jp/endocrinology/index.htm

    • Related Report
      2010 Annual Research Report

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Published: 2010-08-23   Modified: 2019-07-29  

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