The first case of a patient with de novo partial distal 16q tetrasomy and a data's review-Reference-Cited by-同舟云学术

The first case of a patient with de novo partial distal 16q tetrasomy and a data's review

Published:2014-08-08 Issue:10 Volume:164 Page:2541-2550
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Kucharczyk Marzena¹,Kochański Andrzej¹²,Jezela-Stanek Aleksandra¹,Kugaudo Monika¹³,Sielska-Rotblum Danuta¹,Gutkowska Anna¹,Krajewska-Walasek Małgorzata¹

Affiliation:

1. Department of Medical Genetics; The Children's Memorial Health Institute; Warsaw Poland

2. Neuromuscular Unit; Mossakowski Medical Research Centre; Polish Academy of Sciences; Warsaw Poland

3. Department of Child and Adolescent Psychiatry; Medical University of Warsaw; Warsaw Poland

Funder

Polish Ministry of Science and Higher Education

ERDF

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36686/fullpdf

Reference43 articles.

1. Expression of the Fanconi anemia group A gene (FANCA) during mouse embryogenesis;Abu-Issa;Blood,1999

2. Differential expression of invasion promoting genes in childhood rhabdomyosarcoma;Armeanu-Ebinger;Int J Oncol,2011

3. Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies;Baker;Am J Med Genet,2002

4. Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene;Bell;Hum Genet,2001

5. Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24;Brice;J Med Genet,2002

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