Clinical and molecular characterization of 40 patients with Noonan syndrome-Reference-Cited by-同舟云学术

Clinical and molecular characterization of 40 patients with Noonan syndrome

Published:2008-11 Issue:6 Volume:51 Page:566-572
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Ferrero Giovanni Battista,Baldassarre Giuseppina,Delmonaco Angelo Giovanni,Biamino Elisa,Banaudi Elena,Carta Claudio,Rossi Cesare,Silengo Margherita Cirillo

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference19 articles.

1. Germline missense mutations affecting KRAS isoform B are associated with a severe Noonan syndrome phenotype;Carta;Am. J. Hum. Genet.,2006

2. Type 1 Arnold–Chiari malformation in a subject with Noonan syndrome;Colli;Pediatr. Med. Chir.,2001

3. Magnetic resonance imaging in the malformative syndromes with mental retardation;Gabrielli;Pediatr. Radiol.,1990

4. Type 1 Arnold–Chiari malformation and Noonan syndrome. A new diagnostic feature?;Holder-Espinasse;Clin. Dysmorphol.,2003

5. Mutation analysis of the genes involved in the Ras-mitogen-activated protein kinase (MAPK) pathway in Korean patients with Noonan syndrome;Lee;Clin. Genet.,2007

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