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

Lethal presentation of neurofibromatosis and Noonan syndrome

(2011) Carlos E. Prada et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndrome

(2011) Angela E. Lin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?

(2011) Amanda Salem Brasil et al.   Arquivos Brasileiros de Endocrinologia e Metabologia

Noonan syndrome and clinically related disorders

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

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

(2011) Francesca Lepri et al.   HUMAN MUTATION

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

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

A new bioinformatics analysis tools framework at EMBL-EBI

(2010) M. Goujon et al.   NUCLEIC ACIDS RESEARCH

IndependentNF1andPTPN11mutations in a family with neurofibromatosis-Noonan syndrome

(2009) Christian Thiel et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Malignant Diseases in Noonan Syndrome and Related Disorders

(2009) Henrik Hasle   HORMONE RESEARCH

PTPN11 Gene Mutation and Severe Neonatal Hypertrophic Cardiomyopathy: What Is the Link?

(2009) Maria Felicia Faienza et al.   PEDIATRIC CARDIOLOGY

Leopard syndrome

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