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| Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans K Kitamura, M Yanazawa, N Sugiyama, H Miura, A Iizuka-Kogo, ... Nature genetics 32 (3), 359-369, 2002 | 789 | 2002 |
| Mapping the human genetic architecture of COVID-19 Writing group Writing group leaders Pathak Gita A. 6 Andrews Shea J. 7 Kanai ... Nature 600 (7889), 472-477, 2021 | 720 | 2021 |
| Rationale and study design of the Japan environment and children’s study (JECS) T Kawamoto, H Nitta, K Murata, E Toda, N Tsukamoto, M Hasegawa, ... BMC public health 14, 1-8, 2014 | 633 | 2014 |
| Diagnosis and management of Silver–Russell syndrome: first international consensus statement EL Wakeling, F Brioude, O Lokulo-Sodipe, SM O'Connell, J Salem, J Bliek, ... Nature Reviews Endocrinology 13 (2), 105-124, 2017 | 463 | 2017 |
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| Role of retrotransposon-derived imprinted gene, Rtl1, in the feto-maternal interface of mouse placenta Y Sekita, H Wagatsuma, K Nakamura, R Ono, M Kagami, N Wakisaka, ... Nature genetics 40 (2), 243-248, 2008 | 344 | 2008 |
| Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features T Ogata, N Matsuo Human genetics 95, 607-629, 1995 | 344 | 1995 |
| Deletions and epimutations affecting the human 14q32. 2 imprinted region in individuals with paternal and maternal upd (14)-like phenotypes M Kagami, Y Sekita, G Nishimura, M Irie, F Kato, M Okada, S Yamamori, ... Nature genetics 40 (2), 237-242, 2008 | 328 | 2008 |
| Deletions of the Homeobox Gene SHOX (Short Stature Homeobox) Are an Important Cause of Growth Failure in Children with Short Stature GA Rappold, M Fukami, B Niesler, S Schiller, W Zumkeller, M Bettendorf, ... The Journal of Clinical Endocrinology & Metabolism 87 (3), 1402-1406, 2002 | 297 | 2002 |
| Clinical Assessment and Mutation Analysis of Kallmann Syndrome 1 (KAL1) and Fibroblast Growth Factor Receptor 1 (FGFR1, or KAL2) in Five Families and 18 … N Sato, N Katsumata, M Kagami, T Hasegawa, N Hori, S Kawakita, ... The Journal of Clinical Endocrinology & Metabolism 89 (3), 1079-1088, 2004 | 276 | 2004 |
| Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment C Tayama, V Romanelli, A Martin-Trujillo, I Iglesias-Platas, K Okamura, ... Genome research 24 (4), 554-569, 2014 | 273 | 2014 |
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| The IG-DMR and the MEG3-DMR at human chromosome 14q32. 2: hierarchical interaction and distinct functional properties as imprinting control centers M Kagami, MJ O'Sullivan, AJ Green, Y Watabe, O Arisaka, N Masawa, ... PLoS genetics 6 (6), e1000992, 2010 | 234 | 2010 |
| Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome T Kosho, K Muroya, T Nagai, M Fujimoto, S Yokoya, H Sakamoto, ... The Journal of Clinical Endocrinology & Metabolism 84 (12), 4613-4621, 1999 | 230 | 1999 |
| MLL2 and KDM6A mutations in patients with Kabuki syndrome N Miyake, E Koshimizu, N Okamoto, S Mizuno, T Ogata, T Nagai, T Kosho, ... American journal of medical genetics Part A 161 (9), 2234-2243, 2013 | 205 | 2013 |
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| GATA3 abnormalities and the phenotypic spectrum of HDR syndrome K Muroya, T Hasegawa, Y Ito, T Nagai, H Isotani, Y Iwata, K Yamamoto, ... Journal of medical genetics 38 (6), 374-380, 2001 | 178 | 2001 |
| Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients M Fukami, R Horikawa, T Nagai, T Tanaka, Y Naiki, N Sato, T Okuyama, ... The Journal of Clinical Endocrinology & Metabolism 90 (1), 414-426, 2005 | 168 | 2005 |
Tomonobu Hasegawa確認したメール アドレス: keio.jp
