Microduplication of 3p25.2 encompassingRAF1associated with congenital heart disease suggestive of Noonan syndrome

Clinical and molecular delineation of 16p13.3 duplication in a patient with congenital heart defect and multiple congenital anomalies

(2012) Jin-Lan Chen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Congenital heart defect and mental retardation in a patient with a 13q33.1-34 deletion

(2012) Can Huang et al.   GENE

Noonan syndrome and clinically related disorders

(2011) Marco Tartaglia et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype

(2010) Simone Martinelli et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms

(2010) Marco Tartaglia et al.   Annals of the New York Academy of Sciences

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

(2010) Yasmin Namavar et al.   BRAIN

Genomic duplication ofPTPN11is an uncommon cause of Noonan syndrome

(2009) John M. Graham et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

(2009) William E Tidyman et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

A restricted spectrum of NRAS mutations causes Noonan syndrome

(2009) Ion C Cirstea et al.   NATURE GENETICS

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

(2009) Steven C Greenway et al.   NATURE GENETICS

Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome

(2008) Oleg A. Shchelochkov et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Makorin-2 Is a Neurogenesis Inhibitor Downstream of Phosphatidylinositol 3-Kinase/Akt (PI3K/Akt) Signal

(2008) Pai-Hao Yang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Leopard syndrome

(2008) Anna Sarkozy et al.   Orphanet Journal of Rare Diseases