Mutation Spectrum and Genotype-Phenotype Correlation in Cornelia de Lange Syndrome-Reference-Cited by-同舟云学术

Mutation Spectrum and Genotype-Phenotype Correlation in Cornelia de Lange Syndrome

Published:2013-09-16 Issue:12 Volume:34 Page:1589-1596
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Mannini Linda¹,Cucco Francesco¹²,Quarantotti Valentina¹,Krantz Ian D.³,Musio Antonio¹

Affiliation:

1. Istituto di Ricerca Genetica e Biomedica; Consiglio Nazionale delle Ricerche; Pisa Italy

2. Dipartimento di Biologia; Università di Pisa; Pisa Italy

3. Division of Human Genetics; The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania; Philadelphia Pennsylvania USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference64 articles.

1. In vitro loading of human cohesin on DNA by the human Scc2-Scc4 loader complex;Bermudez;Proc Natl Acad Sci USA,2012

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. Ein fall von symmetrischer monodaktylie durch Ulnadefekt, mit symmetrischer flughautbildung in den ellenbeugen, sowie anderen abnoanderen (zwerghaftogkeit, halsrippen, behaarung);Brachmann;Jarb Kinder Phys Erzie,1916

4. Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction;Braunholz;Eur J Hum Genet,2012

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

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