Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings-Reference-Cited by-同舟云学术

Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings

Published:2013-01-16 Issue:9 Volume:21 Page:936-942
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Croonen Ellen A,Nillesen Willy M,Stuurman Kyra E,Oudesluijs Gretel,van de Laar Ingrid M B M,Martens Liesbeth,Ockeloen Charlotte,Mathijssen Inge B,Schepens Marga,Ruiterkamp-Versteeg Martina,Scheffer Hans,Faas Brigitte H W,van der Burgt Ineke,Yntema Helger G

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2012285.pdf

Reference37 articles.

1. Allanson JE : Noonan Syndrome. J Med Genet 1987; 24: 9–13.

2. Noonan JA : Noonan syndrome. An update and review for the primary pediatrician. Clin Pediatr 1994; 33: 548–555.

3. Sharland M, Burch M, McKenna WM, Paton MA : A clinical study of Noonan syndrome. Arch Dis Child 1992; 67: 178–183.

4. Tartaglia M, Mehler EL, Goldberg R et al: Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 2001; 29: 465–468.

5. Tartaglia M, Kalidas K, Shaw A et al: PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet 2002; 70: 1555–1563.

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