Tsutomu Ogata

Overview

Best Publications

• Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

  Ercole Rao;Birgit Weiss;Maki Fukami;Maki Fukami;Andreas Rump

  1170
  Citations

• Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.

  Kunio Kitamura;Masako Yanazawa;Noriyuki Sugiyama;Hirohito Miura

  770
  Citations

• Diagnosis and management of Silver–Russell syndrome: first international consensus statement

  Emma L. Wakeling;Frédéric Brioude;Frédéric Brioude;Oluwakemi Lokulo-Sodipe;Oluwakemi Lokulo-Sodipe;Susan M. O'Connell

  458
  Citations

• Genomic imprinting at the mammalian Dlk1-Dio3 domain

  Simao Teixeira da Rocha;Carol A. Edwards;Mitsuteru Ito;Tsutomu Ogata

  457
  Citations

• Role of retrotransposon-derived imprinted gene, Rtl1 , in the feto-maternal interface of mouse placenta

  Yoichi Sekita;Hirotaka Wagatsuma;Kenji Nakamura;Ryuichi Ono

  351
  Citations

• Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome

  Yoko Aoki;Tetsuya Niihori;Toshihiro Banjo;Nobuhiko Okamoto

  348
  Citations

• Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features.

  Tsutomu Ogata;Nobutake Matsuo

  347
  Citations

• Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes

  Masayo Kagami;Yoichi Sekita;Gen Nishimura;Masahito Irie

  335
  Citations

• Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment

  Franck Court;Chiharu Tayama;Valeria Romanelli;Alex Martin-Trujillo

  318
  Citations

• Clinical Assessment and Mutation Analysis of Kallmann Syndrome 1 (KAL1) and Fibroblast Growth Factor Receptor 1 (FGFR1, or KAL2) in Five Families and 18 Sporadic Patients

  Naoko Sato;Noriyuki Katsumata;Masayo Kagami;Tomonobu Hasegawa

  298
  Citations

• Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature.

  Gudrun A. Rappold;Maki Fukami;Beate Niesler;Simone Schiller

  294
  Citations

• CHD7 mutations in patients initially diagnosed with Kallmann syndrome – the clinical overlap with CHARGE syndrome

  M. C. J. Jongmans;C. M. A. van Ravenswaaij-Arts;N. Pitteloud;T. Ogata

  243
  Citations

• The IG-DMR and the MEG3-DMR at human chromosome 14q32.2: hierarchical interaction and distinct functional properties as imprinting control centers.

  Masayo Kagami;Maureen J. O'Sullivan;Andrew J. Green;Yoshiyuki Watabe

  243
  Citations

• Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: Implications for the development of Turner syndrome

  Tomoki Kosho;Koji Muroya;Toshiro Nagai;Masatoshi Fujimoto

  234
  Citations

• MLL2 and KDM6A mutations in patients with Kabuki syndrome.

  Noriko Miyake;Eriko Koshimizu;Nobuhiko Okamoto;Seiji Mizuno

  210
  Citations

• Uniparental disomy and human disease: an overview.

  Kazuki Yamazawa;Tsutomu Ogata;Anne C. Ferguson-Smith

  186
  Citations

• GATA3 abnormalities and the phenotypic spectrum of HDR syndrome

  Koji Muroya;Tomonobu Hasegawa;Yoshiya Ito;Toshiro Nagai

  178
  Citations

• Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients.

  Maki Fukami;Reiko Horikawa;Toshiro Nagai;Toshiaki Tanaka

  165
  Citations

• Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion

  Naohiro Kurotaki;Naoki Harada;Osamu Shimokawa;Noriko Miyake

  163
  Citations

• Turner syndrome and Xp deletions: clinical and molecular studies in 47 patients.

  Tsutomu Ogata;Koji Muroya;Koji Muroya;Nobutake Matsuo;Osamu Shinohara

  161
  Citations