The Brachmann-de Lange syndrome in two siblings of normal parents-Reference-Cited by-同舟云学术

The Brachmann-de Lange syndrome in two siblings of normal parents

Published:2008-06-28 Issue:6 Volume:31 Page:413-415
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

FRYNS J. P.,Dereymaeker A. M.,Hoefnagels M.,D'Hondt F.,Mertens G.,Berghe H. van den

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1987.tb02835.x/fullpdf

Reference10 articles.

1. Familial occurrence of Cornelia de Lange's syndrome;Beck;Acta Paediatr. Scand.,1974

2. Ein Fall von symmetrisch-er Monodaktylie durch Ulnadefekt, mit sym-metrischer Flughautbildung in den Ellenbogen sowie anderen Abnormalitaten;Brachmann;J. B. Kinderhe-ilk. Phys. Erzieh.,1916

3. Prometaphase chromosomes in five patients with the Brachmann-de Lange syndrome;Breslau;Am. J. Med. Genet.,1981

4. Letter to the editors. On the nosology of the Cornelia de Lange and Coffin-Siris syndromes;Fryns;Clin. Genet.,1986

5. Cornelia de Lange syndrome in a mother and daughter;Leavitt;Clin. Genet.,1985

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1. Germline mosaicism in cornelia de lange syndrome: Dilemmas and risk figures;American Journal of Medical Genetics Part A;2013-05-21

2. Germline mosaicism in Cornelia de Lange syndrome;American Journal of Medical Genetics Part A;2012-05-11

3. Cornelia de Lange syndrome: antenatal diagnosis in two consecutive pregnancies due to rare gonadal mosaicism ofNIPBLgene mutation;The Journal of Maternal-Fetal & Neonatal Medicine;2011-02-22

4. A further report of Brachmann-de Lange syndrome in two sibs with normal parents;Clinical Genetics;2008-04-23

5. Paternal gonadal mosaicism of NIPBL mutation in a father of siblings with Cornelia de Lange syndrome;Prenatal Diagnosis;2006-09-07