A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling-Reference-Cited by-同舟云学术

A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

Published:2013-08-01 Issue:25 Volume:22 Page:5121-5135
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Wieczorek Dagmar,Bögershausen Nina,Beleggia Filippo,Steiner-Haldenstätt Sabine,Pohl Esther,Li Yun,Milz Esther,Martin Marcel,Thiele Holger,Altmüller Janine,Alanay Yasemin,Kayserili Hülya,Klein-Hitpass Ludger,Böhringer Stefan,Wollstein Andreas,Albrecht Beate,Boduroglu Koray,Caliebe Almuth,Chrzanowska Krystyna,Cogulu Ozgur,Cristofoli Francesca,Czeschik Johanna Christina,Devriendt Koenraad,Dotti Maria Teresa,Elcioglu Nursel,Gener Blanca,Goecke Timm O.,Krajewska-Walasek Małgorzata,Guillén-Navarro Encarnación,Hayek Joussef,Houge Gunnar,Kilic Esra,Simsek-Kiper Pelin Özlem,López-González Vanesa,Kuechler Alma,Lyonnet Stanislas,Mari Francesca,Marozza Annabella,Mathieu Dramard Michèle,Mikat Barbara,Morin Gilles,Morice-Picard Fanny,Özkinay Ferda,Rauch Anita,Renieri Alessandra,Tinschert Sigrid,Utine G. Eda,Vilain Catheline,Vivarelli Rossella,Zweier Christiane,Nürnberg Peter,Rahmann Sven,Vermeesch Joris,Lüdecke Hermann-Josef,Zeschnigk Michael,Wollnik Bernd

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/22/25/5121/14140275/ddt366.pdf

Reference28 articles.

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2. Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin–Siris syndrome;Santen;Nat. Genet.,2012

3. Mutations affecting components of the SWI/SNF complex cause CoffinSiris syndrome;Tsurusaki;Nat. Genet.,2012

4. Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability;Hoyer;Am. J. Hum. Genet.,2012

5. Mental retardation with absent fifth fingernail and terminal phalanx;Coffin;Am. J. Dis. Child.,1970

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