Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation-Reference-Cited by-同舟云学术

Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation

Published:2007-03 Issue:3 Volume:80 Page:485-494
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Deardorff Matthew A.,Kaur Maninder,Yaeger Dinah,Rampuria Abhinav,Korolev Sergey,Pie Juan,Gil-Rodríguez Concepcion,Arnedo María,Loeys Bart,Kline Antonie D.,Wilson Meredith,Lillquist Kaj,Siu Victoria,Ramos Feliciano J.,Musio Antonio,Jackson Laird S.,Dorsett Dale,Krantz Ian D.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference30 articles.

1. The structure and function of SMC and kleisin complexes;Nasmyth;Annu Rev Biochem,2005

2. At the heart of the chromosome: SMC proteins in action;Hirano;Nat Rev Mol Cell Biol,2006

3. NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations;Gillis;Am J Hum Genet,2004

4. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B;Krantz;Nat Genet,2004

5. NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome;Tonkin;Nat Genet,2004

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