Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype

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

Mutational analysis of SHOC2, a novel gene for Noonan-like syndrome, in JMML

(2010) C. Flotho et al.   BLOOD

PTPN11 and KRAS Gene Analysis in Patients with Noonan and Noonan-Like Syndromes

(2010) Amanda Salem Brasil et al.   Genetic Testing and Molecular Biomarkers

IndependentNF1andPTPN11mutations in a family with neurofibromatosis-Noonan syndrome

(2009) Christian Thiel 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

GermlineBRAFmutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum

(2009) Anna Sarkozy et al.   HUMAN MUTATION

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

(2009) Viviana Cordeddu et al.   NATURE GENETICS

A restricted spectrum of NRAS mutations causes Noonan syndrome

(2009) Ion C Cirstea et al.   NATURE GENETICS

A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins

(2008) Anna-Maja Nyström et al.   ACTA PAEDIATRICA

The tyrosine phosphatase Shp2 (PTPN11) in cancer

(2008) Gordon Chan et al.   CANCER AND METASTASIS REVIEWS

Germline PTPN11 missense mutation in a case of Noonan syndrome associated with mediastinal and retroperitoneal neuroblastic tumors

(2008) Léon Mutesa et al.   CANCER GENETICS AND CYTOGENETICS