SMC1Aexpression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome-Reference-Cited by-同舟云学术

SMC1Aexpression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome

Published:2009-11 Issue:11 Volume:30 Page:1535-1542
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Liu Jinglan,Feldman Rachel,Zhang Zhe,Deardorff Matthew A.,Haverfield Eden V.,Kaur Maninder,Li Jennifer R.,Clark Dinah,Kline Antonie D.,Waggoner Darrel J.,Das Soma,Jackson Laird G.,Krantz Ian D.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.21095/fullpdf

Reference25 articles.

1. Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations;Borck;Hum Mutat,2007

2. Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5′ untranslated region of the NIPBL gene;Borck;Hum Mutat,2006

3. The DXS423E gene in Xp11.21 escapes X chromosome inactivation;Brown;Hum Mol Genet,1995

4. X-inactivation profile reveals extensive variability in X-linked gene expression in females;Carrel;Nature,2005

5. Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation;Deardorff;Am J Hum Genet,2007

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3. Case report: A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome;Frontiers in Genetics;2022-09-28

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5. Further Characterization of SMC1A Loss of Function Epilepsy Distinct From Cornelia de Lange Syndrome;Journal of Child Neurology;2022-03-03