Noonan Syndrome
|
0.780 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Noonan Syndrome
|
0.780 |
CausalMutation
|
disease |
CLINVAR |
Juvenile myelomonocytic leukemia and Noonan syndrome.
|
10598665 |
2000 |
Noonan Syndrome
|
0.780 |
CausalMutation
|
disease |
CLINVAR |
Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia.
|
14982869 |
2004 |
Noonan Syndrome
|
0.780 |
CausalMutation
|
disease |
CLINVAR |
Constitutive activation of the Ras-Raf signaling pathway in metastatic melanoma is associated with poor prognosis.
|
15046639 |
2004 |
Noonan Syndrome
|
0.780 |
CausalMutation
|
disease |
CLINVAR |
Repressible transgenic model of NRAS oncogene-driven mast cell disease in the mouse.
|
15831708 |
2005 |
Noonan Syndrome
|
0.780 |
CausalMutation
|
disease |
CLINVAR |
Mutations of the PTPN11 and RAS genes in rhabdomyosarcoma and pediatric hematological malignancies.
|
16518851 |
2006 |
Noonan Syndrome
|
0.780 |
CausalMutation
|
disease |
CLINVAR |
Hyperactive Ras in developmental disorders and cancer.
|
17384584 |
2007 |
Noonan Syndrome
|
0.780 |
CausalMutation
|
disease |
CLINVAR |
RAS oncogene suppression induces apoptosis followed by more differentiated and less myelosuppressive disease upon relapse of acute myeloid leukemia.
|
18952898 |
2009 |
Noonan Syndrome
|
0.780 |
CausalMutation
|
disease |
CLINVAR |
Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia.
|
19047918 |
2009 |
Noonan Syndrome
|
0.780 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Germ-line mutation of the NRAS gene may be responsible for the development of juvenile myelomonocytic leukaemia.
|
19775298 |
2009 |
Noonan Syndrome
|
0.780 |
GermlineCausalMutation
|
disease |
ORPHANET |
A restricted spectrum of NRAS mutations causes Noonan syndrome.
|
19966803 |
2010 |
Noonan Syndrome
|
0.780 |
Biomarker
|
disease |
CTD_human |
A restricted spectrum of NRAS mutations causes Noonan syndrome.
|
19966803 |
2010 |
Noonan Syndrome
|
0.780 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A restricted spectrum of NRAS mutations causes Noonan syndrome.
|
19966803 |
2010 |
Noonan Syndrome
|
0.780 |
Biomarker
|
disease |
CLINGEN |
A restricted spectrum of NRAS mutations causes Noonan syndrome.
|
19966803 |
2010 |
Noonan Syndrome
|
0.780 |
CausalMutation
|
disease |
CLINVAR |
A restricted spectrum of NRAS mutations causes Noonan syndrome.
|
19966803 |
2010 |
Noonan Syndrome
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
A restricted spectrum of NRAS mutations causes Noonan syndrome.
|
19966803 |
2010 |
Noonan Syndrome
|
0.780 |
Biomarker
|
disease |
BEFREE |
Germline mutations in genes encoding small GTPases of the RAS family (KRAS and NRAS), modulators of RAS function (PTPN11, SOS1 and SHOC2) or downstream signal transducers (RAF1) are causative for NS.
|
20673819 |
2011 |
Noonan Syndrome
|
0.780 |
CausalMutation
|
disease |
CLINVAR |
In conclusion, mutations in NRAS from individuals with Noonan syndrome activated N-Ras signaling and induced developmental defects in zebrafish embryos, indicating that activating mutations in NRAS cause Noonan syndrome.
|
21263000 |
2011 |
Noonan Syndrome
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, mutations in NRAS from individuals with Noonan syndrome activated N-Ras signaling and induced developmental defects in zebrafish embryos, indicating that activating mutations in NRAS cause Noonan syndrome.
|
21263000 |
2011 |
Noonan Syndrome
|
0.780 |
Biomarker
|
disease |
CLINGEN |
In conclusion, mutations in NRAS from individuals with Noonan syndrome activated N-Ras signaling and induced developmental defects in zebrafish embryos, indicating that activating mutations in NRAS cause Noonan syndrome.
|
21263000 |
2011 |
Noonan Syndrome
|
0.780 |
Biomarker
|
disease |
CLINGEN |
Our results confirm that a small proportion of Noonan syndrome patients carry germline NRAS mutations.
|
22855653 |
2012 |
Noonan Syndrome
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
We report on the mutational analysis of NRAS in a cohort of 125 French patients with NS and no known mutation for PTPN11, KRAS, SOS1, MEK1, MEK2, RAF1, BRAF, and SHOC2.
|
22887781 |
2012 |
Noonan Syndrome
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
RASopathies (Noonan syndrome (NS) and Noonan-related syndromes) are neurodevelopmental syndromes resulting from germline mutations in genes that participate in the rat sarcoma/mitogen-activated protein kinases (RAS/MAPK) pathway (PTPN11, SOS1, RAF, KRAS or NRAS, and SHOC2).
|
23786871 |
2013 |
Noonan Syndrome
|
0.780 |
Biomarker
|
disease |
CLINGEN |
The RASopathies.
|
23875798 |
2013 |
Noonan Syndrome
|
0.780 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The RASopathies.
|
23875798 |
2013 |