相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype
Simone Martinelli et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Mutational analysis of SHOC2, a novel gene for Noonan-like syndrome, in JMML
Christian Flotho et al.
BLOOD (2010)
PTPN11 and KRAS Gene Analysis in Patients with Noonan and Noonan-Like Syndromes
Amanda Salem Brasil et al.
GENETIC TESTING AND MOLECULAR BIOMARKERS (2010)
A restricted spectrum of NRAS mutations causes Noonan syndrome
Ion C. Cirstea et al.
NATURE GENETICS (2010)
A severe form of Noonan syndrome and autosomal dominant cafE-au-lait spots - evidence for different genetic origins
Anna-Maja Nystrom et al.
ACTA PAEDIATRICA (2009)
Independent NF1 and PTPN11 Mutations in a Family With Neurofibromatosis-Noonan Syndrome
Christian Thiel et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation
William E. Tidyman et al.
CURRENT OPINION IN GENETICS & DEVELOPMENT (2009)
Germline BRAF Mutations in Noonan, LEOPARD, and Cardiofaciocutaneous Syndromes: Molecular Diversity and Associated Phenotypic Spectrum
Anna Sarkozy et al.
HUMAN MUTATION (2009)
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair
Viviana Cordeddu et al.
NATURE GENETICS (2009)
The tyrosine phosphatase Shp2 (PTPN11) in cancer
Gordon Chan et al.
CANCER AND METASTASIS REVIEWS (2008)
Germline PTPN11 missense mutation in a case of Noonan syndrome associated with mediastinal and retroperitoneal neuroblastic tumors
Leon Mutesa et al.
CANCER GENETICS AND CYTOGENETICS (2008)
Costello syndrome: clinical diagnosis in the first year of life
M. Cristina Digilio et al.
EUROPEAN JOURNAL OF PEDIATRICS (2008)
Clinical and molecular aspects of RAS related disorders
E. Denayer et al.
JOURNAL OF MEDICAL GENETICS (2008)
Noonan and cardio-facio-cutaneous syndromes:: two clinically and genetically overlapping disorders
A.-M. Nystrom et al.
JOURNAL OF MEDICAL GENETICS (2008)
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway:: genotype-phenotype relationships and overlap with Costello syndrome
Caroline Nava et al.
JOURNAL OF MEDICAL GENETICS (2007)
Germline gain-of-function mutations in RAF1 cause Noonan syndrome
M. Abdur Razzaque et al.
NATURE GENETICS (2007)
Post-translational modifications and regulation of the RAS superfamily of GTPases as anticancer targets
Panagiotis A. Konstantinopoulos et al.
NATURE REVIEWS DRUG DISCOVERY (2007)
Noonan syndrome
Ineke van der Burgt
ORPHANET JOURNAL OF RARE DISEASES (2007)
Mild variable Noonan syndrome in a family with a novel PTPN11 mutation
Martin Zenker et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2007)
Hyperactive Ras in developmental disorders and cancer
Suzanne Schubbert et al.
NATURE REVIEWS CANCER (2007)
Neurofibromatosis-Noonan syndrome: Molecular evidence of the concurrence of both disorders in a patient
DR Bertola et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Activating mutations of the Noonan syndrome-associated SHP2/PTPN11 gene in human solid tumors and adult acute myelogenous leukemia
M Bentires-Alj et al.
CANCER RESEARCH (2004)
Noonan-like syndrome with loose anagen hair: A new syndrome?
L Mazzanti et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2003)
Five additional Costello syndrome patients with rhabdomyosarcoma: Proposal for a tumor screening protocol
KW Gripp et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2002)