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

Noonan syndrome and clinically related disorders

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

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

A further patient with Noonan syndrome due to a SOS1 mutation and rhabdomyosarcoma

(2010) Rob Hastings et al.   GENES CHROMOSOMES & CANCER

Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma

(2010) Marjolijn C. J. Jongmans et al.   GENES CHROMOSOMES & CANCER

Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome–associated Sos1 mutation

(2010) Peng-Chieh Chen et al.   JOURNAL OF CLINICAL INVESTIGATION

Role of the histone domain in the autoinhibition and activation of the Ras activator Son of Sevenless

(2010) Jodi Gureasko et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Allosteric gating of Son of sevenless activity by the histone domain

(2010) Kamlesh K. Yadav et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

IndependentNF1andPTPN11mutations in a family with neurofibromatosis-Noonan syndrome

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

Phenotype-genotype correlation in a patient with co-occurrence of Marfan and LEOPARD syndromes

(2009) Sa Tang et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

SOS1: a new player in the Noonan-like/multiple giant cell lesion syndrome

(2009) N Hanna et al.   CLINICAL GENETICS

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

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

SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions

(2009) Claire Beneteau et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2009) Anna Sarkozy et al.   HUMAN MUTATION

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

(2009) Steven C Greenway 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

Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome

(2008) Thomas E Neumann et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical and molecular characterization of 40 patients with Noonan syndrome

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

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders

(2008) Yoko Aoki et al.   HUMAN MUTATION

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome

(2008) Yoko Narumi et al.   JOURNAL OF HUMAN 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

Membrane-dependent signal integration by the Ras activator Son of sevenless

(2008) Jodi Gureasko et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

SOS1 mutations are rare in human malignancies: Implications for Noonan syndrome patients

(2007) Kenneth D. Swanson et al.   GENES CHROMOSOMES & CANCER