Literature DB >> 22246578

Mosaic upd(7)mat in a patient with Silver-Russell syndrome.

Tomoko Fuke-Sato, Kazuki Yamazawa, Kazuhiko Nakabayashi, Keiko Matsubara, Kentaro Matsuoka, Tomonobu Hasegawa, Kazushige Dobashi, Tsutomu Ogata.   

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Year:  2012        PMID： 22246578     DOI： 10.1002/ajmg.a.34404

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  5 in total

1.  First genetic screening for maternal uniparental disomy of chromosome 7 in Turkish silver-russell syndrome patients.

Authors:  Emin Karaca; Beyhan Tuysuz; Sacide Pehlivan; Ferda Ozkinay
Journal:  Iran J Pediatr       Date:  2012-12       Impact factor: 0.364

2.  Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome.

Authors:  Tomoko Fuke; Seiji Mizuno; Toshiro Nagai; Tomonobu Hasegawa; Reiko Horikawa; Yoko Miyoshi; Koji Muroya; Tatsuro Kondoh; Chikahiko Numakura; Seiji Sato; Kazuhiko Nakabayashi; Chiharu Tayama; Kenichiro Hata; Shinichiro Sano; Keiko Matsubara; Masayo Kagami; Kazuki Yamazawa; Tsutomu Ogata
Journal:  PLoS One       Date:  2013-03-22       Impact factor: 3.240

3.  Mosaic upd(14)pat in a patient with mild features of Kagami-Ogata syndrome.

Authors:  Marte G Haug; Atle Brendehaug; Gunnar Houge; Masayo Kagami; Tsutomu Ogata
Journal:  Clin Case Rep       Date:  2017-11-28

4.  Mosaic UPD(7q)mat in a patient with silver Russell syndrome.

Authors:  Jiasun Su; Jin Wang; Xin Fan; Chunyun Fu; ShuJie Zhang; Yue Zhang; Zailong Qin; Hongdou Li; Jingsi Luo; Chuan Li; Tingting Jiang; Yiping Shen
Journal:  Mol Cytogenet       Date:  2017-10-17       Impact factor: 2.009

5.  Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders.

Authors:  L Fontana; M F Bedeschi; S Maitz; A Cereda; C Faré; S Motta; A Seresini; P D'Ursi; A Orro; V Pecile; M Calvello; A Selicorni; F Lalatta; D Milani; S M Sirchia; M Miozzo; S Tabano
Journal:  Epigenetics       Date:  2018-10-21       Impact factor: 4.528
  5 in total

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