Mutation in NRAS in familial Noonan syndrome – case report and review of the literature
Published 2015 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Mutation in NRAS in familial Noonan syndrome – case report and review of the literature
Authors
Keywords
<em class=EmphasisTypeItalic >NRAS</em>, Noonan syndrome, Mutation, RAS-MAPK pathway, RASopathies
Journal
BMC Medical Genetics
Volume 16, Issue 1, Pages -
Publisher
Springer Nature
Online
2015-10-15
DOI
10.1186/s12881-015-0239-1
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Cancer spectrum and frequency among children with Noonan, Costello and cardio-facio-cutaneous syndromes
- (2015) C P Kratz et al. BRITISH JOURNAL OF CANCER
- Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis
- (2014) E. Flex et al. HUMAN MOLECULAR GENETICS
- Juvenile myelomonocytic leukaemia and Noonan syndrome
- (2014) Marion Strullu et al. JOURNAL OF MEDICAL GENETICS
- Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome
- (2013) Yoko Aoki et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Noonan syndrome
- (2013) Amy E Roberts et al. LANCET
- ConstitutionalNRASmutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia
- (2012) Lilia Kraoua et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Loss of CBL E3-ligase activity in B-lineage childhood acute lymphoblastic leukaemia
- (2012) Simone Martinelli et al. BRITISH JOURNAL OF HAEMATOLOGY
- Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects
- (2011) V. Runtuwene et al. Disease Models & Mechanisms
- 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
- 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
- Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia
- (2010) Charlotte M Niemeyer et al. NATURE GENETICS
- Germ-line mutation of theNRASgene may be responsible for the development of juvenile myelomonocytic leukaemia
- (2009) Paola De Filippi et al. BRITISH JOURNAL OF HAEMATOLOGY
- GermlineBRAFmutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum
- (2009) Anna Sarkozy et al. HUMAN MUTATION
- 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
Create your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create NowAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started