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1 |
Material Type: Artigo
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Kagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted regionOgata, Tsutomu ; Kagami, MasayoJournal of human genetics, 2016-02, Vol.61 (2), p.87-94 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome)Kagami, Masayo ; Kurosawa, Kenji ; Miyazaki, Osamu ; Ishino, Fumitoshi ; Matsuoka, Kentaro ; Ogata, TsutomuEuropean journal of human genetics : EJHG, 2015-11, Vol.23 (11), p.1488-1498 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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3 |
Material Type: Artigo
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A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2Hara-Isono, Kaori ; Matsubara, Keiko ; Hamada, Riku ; Shimada, Shun ; Yamaguchi, Tomomi ; Wakui, Keiko ; Miyazaki, Osamu ; Muroya, Koji ; Kurosawa, Kenji ; Fukami, Maki ; Ogata, Tsutomu ; Kosho, Tomoki ; Kagami, MasayoJournal of human genetics, 2021-11, Vol.66 (11), p.1121-1126 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Kagami-Ogata syndrome in a patient with 46,XX,t(2;14)(q11.2;q32.2)mat disrupting MEG3Omark, Jessica ; Masunaga, Yohei ; Hannibal, Mark ; Shaw, Brandon ; Fukami, Maki ; Kato, Fumiko ; Saitsu, Hirotomo ; Kagami, Masayo ; Ogata, TsutomuJournal of human genetics, 2021-04, Vol.66 (4), p.439-443 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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5 |
Material Type: Artigo
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Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patientsKagami, Masayo ; Nagasaki, Keisuke ; Kosaki, Rika ; Horikawa, Reiko ; Naiki, Yasuhiro ; Saitoh, Shinji ; Tajima, Toshihiro ; Yorifuji, Tohru ; Numakura, Chikahiko ; Mizuno, Seiji ; Nakamura, Akie ; Matsubara, Keiko ; Fukami, Maki ; Ogata, TsutomuGenetics in medicine, 2017-12, Vol.19 (12), p.1356-1366 [Periódico revisado por pares]United States: Elsevier LimitedSem texto completo |
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6 |
Material Type: Artigo
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Association of four imprinting disorders and ARTHattori, Hiromitsu ; Hiura, Hitoshi ; Kitamura, Akane ; Miyauchi, Naoko ; Kobayashi, Norio ; Takahashi, Souta ; Okae, Hiroaki ; Kyono, Koichi ; Kagami, Masayo ; Ogata, Tsutomu ; Arima, TakahiroClinical epigenetics, 2019-02, Vol.11 (1), p.21-21, Article 21 [Periódico revisado por pares]Germany: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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A Novel GNAS Duplication Associated With Loss‐of‐Methylation Restricted to Exon A/B Causes Pseudohypoparathyroidism Type Ib (PHP1B)Reyes, Monica ; Kagami, Masayo ; Kawashima, Sayaka ; Pallotta, Johanna ; Schnabel, Dirk ; Fukami, Maki ; Jüppner, HaraldJournal of bone and mineral research, 2021-03, Vol.36 (3), p.546-552 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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8 |
Material Type: Artigo
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Insulin resistant diabetes mellitus in SHORT syndrome: case report and literature reviewMasunaga, Yohei ; Fujisawa, Yasuko ; Muramatsu, Mayumi ; Ono, Hiroyuki ; Inoue, Takanobu ; Fukami, Maki ; Kagami, Masayo ; Saitsu, Hirotomo ; Ogata, TsutomuEndocrine Journal, 2021, Vol.68(1), pp.111-117 [Periódico revisado por pares]Japan: The Japan Endocrine SocietyTexto completo disponível |
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9 |
Material Type: Artigo
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Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver-Russell Syndrome-compatible phenotypeKagami, Masayo ; Mizuno, Seiji ; Matsubara, Keiko ; Nakabayashi, Kazuhiko ; Sano, Shinichiro ; Fuke, Tomoko ; Fukami, Maki ; Ogata, TsutomuEuropean journal of human genetics : EJHG, 2015-08, Vol.23 (8), p.1062-1067 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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10 |
Material Type: Artigo
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De Novo Small Supernumerary Marker Chromosomes Arising From Partial Trisomy RescueMatsubara, Keiko ; Yanagida, Kaede ; Nagai, Toshiro ; Kagami, Masayo ; Fukami, MakiFrontiers in genetics, 2020-02, Vol.11, p.132-132 [Periódico revisado por pares]Switzerland: Frontiers Media S.ATexto completo disponível |