Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland-Reference-Cited by-同舟云学术

Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland

Published:2010-12 Issue:1 Volume:10 Page:
ISSN:1471-2431
Container-title:BMC Pediatrics
language:en
Short-container-title:BMC Pediatr

Author:

Wozniak Anna,Wolnik-Brzozowska Danuta,Wisniewska Marzena,Glazar Renata,Materna-Kiryluk Anna,Moszura Tomasz,Badura-Stronka Magdalena,Skolozdrzy Joanna,Krawczynski Maciej R,Zeyland Joanna,Bobkowski Waldemar,Slomski Ryszard,Latos-Bielenska Anna,Siwinska Aldona

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Link

http://link.springer.com/article/10.1186/1471-2431-10-88/fulltext.html

Reference41 articles.

1. Lindsay EA, Vitelli F, Su H, Morishima M, Huynh T, Pramparo T, Juresic V, Ogunrinu G, Sutherkand HF, Scambler PJ, Bradley A, Baldini A: Chromosomal microdeletions: dissecting del22q11 syndrome. Nat Rev Genet. 2001, 2: 858-868. 10.1038/35098574.

2. Devriendt K, Fryns JP, Mortier G: The annual incidence of DiGeorge/velocardiofacial syndrome. J Med Genet. 1998, 35: 789-790. 10.1136/jmg.35.9.789-a.

3. Wilson DI, Burn J, Scambler P, Goodship J: DiGeorge syndrome: part of CATCH22. J Med Genet. 1993, 30: 852-856. 10.1136/jmg.30.10.852.

4. Burn J: Closing time for CATCH22. J Med Genet. 1999, 36: 737-738.

5. Digilio MC, Angioni A, De Santis M, Lombardo A, Giannotti A, Dallapicolla B, Marino B: Screening for celiac disease in patients with deletion 22q11.2 (DiGeorge/velo-cardio-facial syndrome). Clin Genet. 2003, 63: 308-313. 10.1034/j.1399-0004.2003.00049.x.

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