Spectrum of mutations and genotype–phenotype analysis in Noonan syndrome patients with RIT1 mutations

Perinatal features of the RASopathies: Noonan syndrome, Cardiofaciocutaneous syndrome and Costello syndrome

(2014) Angela Myers et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Contribution ofRIT1mutations to the pathogenesis of Noonan syndrome: Four new cases and further evidence of heterogeneity

(2014) Monika Gos et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Further evidence of the importance ofRIT1in Noonan syndrome

(2014) Débora R. Bertola et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Oncogenic RIT1 mutations in lung adenocarcinoma

(2014) A H Berger et al.   ONCOGENE

Next-generation sequencing identifies rare variants associated with Noonan syndrome

(2014) P.-C. Chen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome

(2013) Yoko Aoki et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Noonan syndrome

(2013) Amy E Roberts et al.   LANCET

Novel recurrent mutations in the RAS-like GTP-binding gene RIT1 in myeloid malignancies

(2013) I Gómez-Seguí et al.   LEUKEMIA

Ras/MAPK syndromes and childhood hemato-oncological diseases

(2012) Yoko Aoki et al.   INTERNATIONAL JOURNAL OF HEMATOLOGY

SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations

(2011) Francesca Lepri et al.   HUMAN MUTATION

Spectrum of Mutations in Noonan Syndrome and Their Correlation with Phenotypes

(2011) Beom Hee Lee et al.   JOURNAL OF PEDIATRICS

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

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

Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia

(2010) B. Perez et al.   JOURNAL OF MEDICAL GENETICS

Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia

(2010) Charlotte M Niemeyer et al.   NATURE GENETICS

Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines

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

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

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

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

PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype–phenotype correlation in Korean patients with Noonan syndrome

(2008) Jung Min Ko et al.   JOURNAL OF HUMAN GENETICS