Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessment

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

Clinical and hematologic findings in Noonan syndrome patients with PTPN11 gene mutations

(2010) Murat Derbent et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations

(2010) Mauro Longoni et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The face of Noonan syndrome: Does phenotype predict genotype

(2010) Judith E. Allanson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

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

Molecular and clinical analysis ofRAF1in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation

(2010) Tomoko Kobayashi et al.   HUMAN MUTATION

Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines

(2010) A. A. Romano et al.   PEDIATRICS

Noonan Syndrome and Related Disorders: A Review of Clinical Features and Mutations in Genes of the RAS/MAPK Pathway

(2009) Alexander A.L. Jorge et al.   Hormone Research in Paediatrics

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

Coinheritance of Noonan syndrome and Becker muscular dystrophy

(2009) Argirios Dinopoulos et al.   NEUROMUSCULAR DISORDERS

Analysis of thePTPN11gene in idiopathic short stature children and Noonan syndrome patients

(2008) Lize V. Ferreira et al.   CLINICAL ENDOCRINOLOGY

Clinical and molecular characterization of 40 patients with Noonan syndrome

(2008) Giovanni Battista Ferrero et al.   European Journal of Medical Genetics

Protein tyrosine phosphatases in the JAK/STAT pathway

(2008) Dan Xu   Frontiers in Bioscience-Landmark

The molecular functions of Shp2 in the Ras/Mitogen-activated protein kinase (ERK1/2) pathway

(2007) Marie Dance et al.   CELLULAR SIGNALLING