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

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

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

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

HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome

(2011) Tetsuya Niihori et al.   JOURNAL OF HUMAN GENETICS

Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis

(2011) Tomokatsu Yoshida et al.   JOURNAL OF NEUROLOGY

Characteristics of myasthenia gravis according to onset-age: Japanese nationwide survey

(2011) Hiroyuki Murai et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Nationwide Epidemiological Survey of Acute Pancreatitis in Japan

(2011) Kennichi Satoh et al.   PANCREAS

Non-Hodgkin Lymphoma in a Patient With Cardiofaciocutaneous Syndrome

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

Living with Costello syndrome: Quality of life issues in older individuals

(2009) Elizabeth Hopkins 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 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

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

(2008) Yoko Narumi et al.   JOURNAL OF HUMAN GENETICS

Prevalence and Clinicoepidemiological Features of Moyamoya Disease in Japan

(2007) Shinichi Kuriyama et al.   STROKE