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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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2 |
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]Nature Publishing GroupSem texto completo |
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3 |
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 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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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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6 |
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 |
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7 |
Material Type: Artigo
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Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five PatientsKawashima, Sayaka ; Nakamura, Akie ; Inoue, Takanobu ; Matsubara, Keiko ; Horikawa, Reiko ; Wakui, Keiko ; Takano, Kyoko ; Fukushima, Yoshimitsu ; Tatematsu, Toshi ; Mizuno, Seiji ; Tsubaki, Junko ; Kure, Shigeo ; Matsubara, Yoichi ; Ogata, Tsutomu ; Fukami, Maki ; Kagami, MasayoThe journal of clinical endocrinology and metabolism, 2018-06, Vol.103 (6), p.2083-2088 [Periódico revisado por pares]Washington, DC: Endocrine SocietyTexto completo disponível |
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8 |
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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9 |
Material Type: Artigo
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Uniparental disomy as a cause of pediatric endocrine disordersMatsubara, Keiko ; Kagami, Masayo ; Fukami, MakiClinical Pediatric Endocrinology, 2018, Vol.27(3), pp.113-121Japan: The Japanese Society for Pediatric EndocrinologyTexto completo disponível |
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10 |
Material Type: Artigo
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Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndromeKagami, Masayo ; Matsubara, Keiko ; Nakabayashi, Kazuhiko ; Nakamura, Akie ; Sano, Shinichiro ; Okamura, Kohji ; Hata, Kenichiro ; Fukami, Maki ; Ogata, TsutomuGenetics in medicine, 2017-04, Vol.19 (4), p.476-482 [Periódico revisado por pares]United States: Elsevier IncSem texto completo |