|
Juvenile Myelomonocytic Leukemia
|
|
0.800 |
CausalMutation
|
CLINVAR |
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.
|
28628100 |
2017 |
|
Noonan Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome.
|
28074573 |
2017 |
|
Juvenile Myelomonocytic Leukemia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Determination of the catalytic activity of LEOPARD syndrome-associated SHP2 mutants toward parafibromin, a bona fide SHP2 substrate involved in Wnt signaling.
|
26742426 |
2016 |
|
Noonan Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype.
|
24891296 |
2014 |
|
Noonan Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).
|
25173338 |
2014 |
|
Juvenile Myelomonocytic Leukemia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.
|
24493721 |
2014 |
|
Juvenile Myelomonocytic Leukemia
|
|
0.800 |
CausalMutation
|
CLINVAR |
Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy.
|
22465605 |
2012 |
|
Juvenile Myelomonocytic Leukemia
|
|
0.800 |
CausalMutation
|
CLINVAR |
[Clinical and molecular study of the Noonan syndrome].
|
23513489 |
2012 |
|
Juvenile Myelomonocytic Leukemia
|
|
0.800 |
CausalMutation
|
CLINVAR |
Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy.
|
22465605 |
2012 |
|
Noonan Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Noonan syndrome: clinical features, diagnosis, and management guidelines.
|
20876176 |
2010 |
|
Juvenile Myelomonocytic Leukemia
|
|
0.800 |
CausalMutation
|
CLINVAR |
Clinical and molecular characterization of 40 patients with Noonan syndrome.
|
18678287 |
2009 |
|
Juvenile Myelomonocytic Leukemia
|
|
0.800 |
CausalMutation
|
CLINVAR |
Hodgkin's lymphoma in a patient with Noonan syndrome with germ-line PTPN11 mutations.
|
18758896 |
2008 |
|
Juvenile Myelomonocytic Leukemia
|
|
0.800 |
CausalMutation
|
CLINVAR |
The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.
|
18470943 |
2008 |
|
Noonan Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.
|
19020799 |
2008 |
|
Juvenile Myelomonocytic Leukemia
|
|
0.800 |
CausalMutation
|
CLINVAR |
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
|
16358218 |
2006 |
|
Juvenile Myelomonocytic Leukemia
|
|
0.800 |
CausalMutation
|
CLINVAR |
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
|
16358218 |
2006 |
|
Noonan Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient.
|
15948193 |
2005 |
|
Noonan Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy.
|
15889278 |
2005 |
|
Juvenile Myelomonocytic Leukemia
|
|
0.800 |
CausalMutation
|
CLINVAR |
The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease.
|
15928039 |
2005 |
|
Juvenile Myelomonocytic Leukemia
|
|
0.800 |
CausalMutation
|
CLINVAR |
Genotype-phenotype correlations in Noonan syndrome.
|
15001945 |
2004 |
|
Noonan Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical variability in a Noonan syndrome family with a new PTPN11 gene mutation.
|
15384080 |
2004 |
|
Juvenile Myelomonocytic Leukemia
|
|
0.800 |
CausalMutation
|
CLINVAR |
Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.
|
12960218 |
2003 |
|
Juvenile Myelomonocytic Leukemia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.
|
12717436 |
2003 |
|
Juvenile Myelomonocytic Leukemia
|
|
0.800 |
CausalMutation
|
CLINVAR |
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.
|
12717436 |
2003 |
|
Noonan Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.
|
12960218 |
2003 |