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Kagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region
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Kagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region

Ogata, Tsutomu ; Kagami, Masayo

Journal of human genetics, 2016-02, Vol.61 (2), p.87-94 [Periódico revisado por pares]

England: Nature Publishing Group

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2
Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients
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Artigo
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Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients

Kagami, 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, Tsutomu

Genetics in medicine, 2017-12, Vol.19 (12), p.1356-1366 [Periódico revisado por pares]

Nature Publishing Group

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3
Association of four imprinting disorders and ART
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Artigo
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Association of four imprinting disorders and ART

Hattori, Hiromitsu ; Hiura, Hitoshi ; Kitamura, Akane ; Miyauchi, Naoko ; Kobayashi, Norio ; Takahashi, Souta ; Okae, Hiroaki ; Kyono, Koichi ; Kagami, Masayo ; Ogata, Tsutomu ; Arima, Takahiro

Clinical epigenetics, 2019-02, Vol.11 (1), p.21-21, Article 21 [Periódico revisado por pares]

Germany: BioMed Central Ltd

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4
A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2
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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 2

Hara-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, Masayo

Journal of human genetics, 2021-11, Vol.66 (11), p.1121-1126 [Periódico revisado por pares]

England: Nature Publishing Group

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5
Insulin resistant diabetes mellitus in SHORT syndrome: case report and literature review
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Artigo
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Insulin resistant diabetes mellitus in SHORT syndrome: case report and literature review

Masunaga, Yohei ; Fujisawa, Yasuko ; Muramatsu, Mayumi ; Ono, Hiroyuki ; Inoue, Takanobu ; Fukami, Maki ; Kagami, Masayo ; Saitsu, Hirotomo ; Ogata, Tsutomu

Endocrine Journal, 2021, Vol.68(1), pp.111-117 [Periódico revisado por pares]

Japan: The Japan Endocrine Society

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6
De Novo Small Supernumerary Marker Chromosomes Arising From Partial Trisomy Rescue
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Artigo
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De Novo Small Supernumerary Marker Chromosomes Arising From Partial Trisomy Rescue

Matsubara, Keiko ; Yanagida, Kaede ; Nagai, Toshiro ; Kagami, Masayo ; Fukami, Maki

Frontiers in genetics, 2020-02, Vol.11, p.132-132 [Periódico revisado por pares]

Switzerland: Frontiers Media S.A

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7
Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients
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Artigo
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Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients

Kawashima, 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, Masayo

The journal of clinical endocrinology and metabolism, 2018-06, Vol.103 (6), p.2083-2088 [Periódico revisado por pares]

Washington, DC: Endocrine Society

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8
Kagami-Ogata syndrome in a patient with 46,XX,t(2;14)(q11.2;q32.2)mat disrupting MEG3
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Artigo
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Kagami-Ogata syndrome in a patient with 46,XX,t(2;14)(q11.2;q32.2)mat disrupting MEG3

Omark, Jessica ; Masunaga, Yohei ; Hannibal, Mark ; Shaw, Brandon ; Fukami, Maki ; Kato, Fumiko ; Saitsu, Hirotomo ; Kagami, Masayo ; Ogata, Tsutomu

Journal of human genetics, 2021-04, Vol.66 (4), p.439-443 [Periódico revisado por pares]

England: Nature Publishing Group

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9
Uniparental disomy as a cause of pediatric endocrine disorders
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Artigo
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Uniparental disomy as a cause of pediatric endocrine disorders

Matsubara, Keiko ; Kagami, Masayo ; Fukami, Maki

Clinical Pediatric Endocrinology, 2018, Vol.27(3), pp.113-121

Japan: The Japanese Society for Pediatric Endocrinology

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10
Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome
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Artigo
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Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome

Kagami, Masayo ; Matsubara, Keiko ; Nakabayashi, Kazuhiko ; Nakamura, Akie ; Sano, Shinichiro ; Okamura, Kohji ; Hata, Kenichiro ; Fukami, Maki ; Ogata, Tsutomu

Genetics in medicine, 2017-04, Vol.19 (4), p.476-482 [Periódico revisado por pares]

United States: Elsevier Inc

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