Literature DB >> 16278908

No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients.

Noriko Miyake, Osamu Shimokawa, Naoki Harada, Nadia Sosonkina, Aiko Okubo, Hiroki Kawara, Nobuhiko Okamoto, Hirofumi Ohashi, Kenji Kurosawa, Kenji Naritomi, Tadashi Kaname, Toshiro Nagai, Vorasuk Shotelersuk, Jia-Woei Hou, Yoshimitsu Fukushima, Tatsuro Kondoh, Tadashi Matsumoto, Toshihiko Shinoki, Mitsuhiro Kato, Hidefumi Tonoki, Masayo Nomura, Ko-ichiro Yoshiura, Tatsuya Kishino, Tohru Ohta, Norio Niikawa, Naomichi Matsumoto.   

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Year:  2006        PMID： 16278908     DOI： 10.1002/ajmg.a.31012

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


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  3 in total

1.  Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome.

Authors:  Damien Lederer; Bernard Grisart; Maria Cristina Digilio; Valérie Benoit; Marianne Crespin; Sophie Claire Ghariani; Isabelle Maystadt; Bruno Dallapiccola; Christine Verellen-Dumoulin
Journal:  Am J Hum Genet       Date:  2011-12-22       Impact factor: 11.025

2.  BAC-FISH refutes report of an 8p22-8p23.1 inversion or duplication in 8 patients with Kabuki syndrome.

Authors:  Kendra W Kimberley; Colleen A Morris; Holly H Hobart
Journal:  BMC Med Genet       Date:  2006-05-18       Impact factor: 2.103

3.  Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration.

Authors:  Ivon Cuscó; Miguel del Campo; Mireia Vilardell; Eva González; Blanca Gener; Enrique Galán; Laura Toledo; Luis A Pérez-Jurado
Journal:  BMC Med Genet       Date:  2008-04-11       Impact factor: 2.103
  3 in total

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