Ras/MAPK syndromes and childhood hemato-oncological diseases

Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: Findings from a nationwide epidemiological survey

(2012) Yu Abe et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cardio-facio-cutaneous syndrome: Does genotype predict phenotype?

(2011) Judith E. Allanson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

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

Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects

(2011) V. Runtuwene et al.   Disease Models & Mechanisms

MEK-ERK pathway modulation ameliorates disease phenotypes in a mouse model of Noonan syndrome associated with the Raf1L613V mutation

(2011) Xue Wu et al.   JOURNAL OF CLINICAL INVESTIGATION

Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome–associated PTPN11 mutation

(2011) Talita M. Marin et al.   JOURNAL OF CLINICAL INVESTIGATION

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

Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation

(2010) Katta M. Girisha et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Autoimmune lymphoproliferative syndrome-like disease with somatic KRAS mutation

(2010) M. Takagi et al.   BLOOD

Recurrent BRAF mutations in Langerhans cell histiocytosis

(2010) G. Badalian-Very et al.   BLOOD

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

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

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

Non-Hodgkin Lymphoma in a Patient With Cardiofaciocutaneous Syndrome

(2010) Akira Ohtake et al.   JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY

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

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

(2008) Yoko Aoki 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

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