Phenotypic variability associated with the invariantSHOC2c.4A>G (p.Ser2Gly) missense mutation

Coarctation of the aorta in Noonan-like syndrome with loose anagen hair

(2014) Michaela Zmolikova et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Hydrops fetalis in a preterm newborn heterozygous for the c.4A>GSHOC2mutation

(2014) Giancarlo Gargano et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

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

Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings

(2013) Ellen A Croonen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Noonan syndrome

(2013) Amy E Roberts et al.   LANCET

Comment on “Prenatal diagnosis and prognosis in Noonan syndrome”

(2013) Giuseppina Baldassarre et al.   PRENATAL DIAGNOSIS

A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with aPTPN11mutation and a novel variant inSOS1

(2012) Jill A. Fahrner et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Noonan syndrome due to aSHOC2mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant

(2012) Rebecca Hoban et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical and molecular analysis of RASopathies in a group of Turkish patients

(2012) PÖ Şimşek-Kiper et al.   CLINICAL GENETICS

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

(2011) Sara Ekvall et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Noonan syndrome and clinically related disorders

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

Clinical manifestations of mutations in RAS and related intracellular signal transduction factors

(2011) Martin Zenker   CURRENT OPINION IN PEDIATRICS

Spectrum of Mutations in Noonan Syndrome and Their Correlation with Phenotypes

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

Prenatal features of Noonan syndrome: prevalence and prognostic value

(2011) G. Baldassarre et al.   PRENATAL DIAGNOSIS

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

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

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

Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies

(2010) Shoko Komatsuzaki et al.   JOURNAL OF HUMAN GENETICS

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

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

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 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