The RASopathies

The Learning Disabilities Network (LeaDNet): Using neurofibromatosis type 1 (NF1) as a paradigm for translational research

(2012) Maria T. Acosta et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

ERK Inhibition Rescues Defects in Fate Specification of Nf1-Deficient Neural Progenitors and Brain Abnormalities

(2012) Yuan Wang et al.   CELL

Continual low-level MEK inhibition ameliorates cardio-facio-cutaneous phenotypes in zebrafish

(2012) C. Anastasaki et al.   Disease Models & Mechanisms

Lovastatin regulates brain spontaneous low-frequency brain activity in Neurofibromatosis type 1

(2012) Camille Chabernaud et al.   NEUROSCIENCE LETTERS

Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome

(2011) Karen W. Gripp 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

Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes

(2011) Christian P. Kratz et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Costello and cardio-facio-cutaneous syndromes: Moving toward clinical trials in RASopathies

(2011) Katherine A. Rauen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Dermatological phenotype in Costello syndrome: consequences of Ras dysregulation in development

(2011) D.H. Siegel et al.   BRITISH JOURNAL OF DERMATOLOGY

Lovastatin as Treatment for Neurocognitive Deficits in Neurofibromatosis Type 1: Phase I Study

(2011) Maria T. Acosta et al.   PEDIATRIC NEUROLOGY

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 functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: Transmission through four generations

(2010) Katherine A. Rauen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Kinase-Dead BRAF and Oncogenic RAS Cooperate to Drive Tumor Progression through CRAF

(2010) Sonja J. Heidorn et al.   CELL

Legius syndrome in fourteen families

(2010) Ellen Denayer et al.   HUMAN MUTATION

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

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

Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back

(2009) Katherine A. Rauen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Male-to-male transmission of Costello syndrome: G12SHRASgermline mutation inherited from a father with somatic mosaicism

(2009) Katia Sol-Church et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors

(2009) C. Anastasaki et al.   HUMAN MOLECULAR GENETICS

Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1

(2009) Hilde Brems et al.   LANCET ONCOLOGY

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

Noonan, Costello and cardio–facio–cutaneous syndromes: dysregulation of the Ras–MAPK pathway

(2008) William E. Tidyman et al.   EXPERT REVIEWS IN MOLECULAR MEDICINE

Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development

(2008) Kimihiko Oishi et al.   HUMAN MOLECULAR GENETICS

Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations

(2008) Nicole Revencu et al.   HUMAN MUTATION

Effect of Simvastatin on Cognitive Functioning in Children With Neurofibromatosis Type 1

(2008) Lianne C. Krab   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Neurofibromatosis Type 1 Revisited

(2008) V. C. Williams et al.   PEDIATRICS