Silver-Russell syndrome: genetic basis and molecular genetic testing-Reference-Cited by-同舟云学术

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Silver-Russell syndrome: genetic basis and molecular genetic testing

Published:2010-06-23 Issue:1 Volume:5 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Eggermann Thomas,Begemann Matthias,Binder Gerhard,Spengler Sabrina

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/1750-1172-5-19.pdf

Reference59 articles.

1. Eggermann T, Gonzalez D, Spengler S, Arslan-Kirchner M, Binder G, Schönherr N: Broad clinical spectrum in Silver-Russell syndrome and consequences for genetic testing in growth retardation. Pediatrics. 2009, 123: e929-e931. 10.1542/peds.2008-3228.

2. Duncan PA, Hall JG, Shapiro LR, Vibert BK: Three-generation dominant transmission of the Silver-Russell syndrome. Am J Med Genet. 1990, 35: 245-250. 10.1002/ajmg.1320350220.

3. Ounap K, Reimand T, Magi ML, Bartsch O: Two sisters with Silver-Russell phenotype. Am J Med Genet A. 2004, 131: 301-306. 10.1002/ajmg.a.30379.

4. Bartholdi D, Krajewska-Walasek M, Ounap K, Gaspar H, Chrzanowska KH, Ilyana H, Kayserili H, Lurie IW, Schinzel A, Baumer A: Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes. J Med Genet. 2009, 46: 192-197. 10.1136/jmg.2008.061820.

5. Midro AT, Debek K, Sawicka A, Marcinkiewicz D, Rogowska M: Second observation of Silver-Russel syndrome in a carrier of a reciprocal translocation with one breakpoint at site 17q25. Clin Genet. 1993, 44: 53-55.

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