Noonan Syndrome
|
0.460 |
Biomarker
|
disease |
BEFREE |
Here we report that two JMML patients survived >20 years without HSCT and both patients had uniparental disomy of 11q23 where CBL is located without the phenomenon found in neither Noonan syndrome nor Noonan syndrome-like disorder.
|
26911351 |
2016 |
Noonan Syndrome
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
Most cases of Noonan syndrome (NS) result from mutations in one of the RAS-MAPK signaling genes, including PTPN11, SOS1, KRAS, NRAS, RAF1, BRAF, SHOC2, MEK1 (MAP2K1), and CBL.
|
26286251 |
2015 |
Noonan Syndrome
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
CBL mutation scanning performed on 349 affected subjects with features overlapping NS and no mutation in NS genes allowed the identification of five different variants with pathological significance.
|
25952305 |
2015 |
Noonan Syndrome
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
Germline mutation of CBL is associated with moyamoya disease in a child with juvenile myelomonocytic leukemia and Noonan syndrome-like disorder.
|
25283271 |
2015 |
Noonan Syndrome
|
0.460 |
CausalMutation
|
disease |
CLINVAR |
Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations.
|
25358541 |
2015 |
Noonan Syndrome
|
0.460 |
CausalMutation
|
disease |
CLINVAR |
Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.
|
25952305 |
2015 |
Noonan Syndrome
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
Since we detected enhanced ERK phosphorylation in cells expressing mutant CBL, we conclude that aberrant EGFR trafficking contributes to augmented RAS-MAPK signaling, the common trait of Noonan syndrome and related RASopathies.
|
25178484 |
2014 |
Noonan Syndrome
|
0.460 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The RASopathies.
|
23875798 |
2013 |
Noonan Syndrome
|
0.460 |
CausalMutation
|
disease |
CLINVAR |
In hematopoietic cells with a germline mutation of CBL, loss of heterozygosity is not a signature of juvenile myelo-monocytic leukemia.
|
23823657 |
2013 |
Noonan Syndrome
|
0.460 |
GeneticVariation
|
disease |
CLINVAR |
Gene mutations in the Ras pathway and the prognostic implication in Korean patients with juvenile myelomonocytic leukemia.
|
21901340 |
2012 |
Noonan Syndrome
|
0.460 |
GeneticVariation
|
disease |
CLINVAR |
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.
|
20619386 |
2010 |
Noonan Syndrome
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
These findings document that germline mutations in CBL alter development to cause a clinically variable condition that resembles NS and that possibly predisposes to malignancies.
|
20619386 |
2010 |
Noonan Syndrome
|
0.460 |
GeneticVariation
|
disease |
CLINVAR |
Genetic typing of CBL, ASXL1, RUNX1, TET2 and JAK2 in juvenile myelomonocytic leukaemia reveals a genetic profile distinct from chronic myelomonocytic leukaemia.
|
20955399 |
2010 |
Noonan Syndrome
|
0.460 |
CausalMutation
|
disease |
CLINVAR |
Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.
|
20694012 |
2010 |
Noonan Syndrome
|
0.460 |
GeneticVariation
|
disease |
CLINVAR |
Next-generation sequencing technology reveals a characteristic pattern of molecular mutations in 72.8% of chronic myelomonocytic leukemia by detecting frequent alterations in TET2, CBL, RAS, and RUNX1.
|
20644105 |
2010 |
Noonan Syndrome
|
0.460 |
CausalMutation
|
disease |
CLINVAR |
Long-term survival after nonintensive chemotherapy in some juvenile myelomonocytic leukemia patients with CBL mutations, and the possible presence of healthy persons with the mutations.
|
20595524 |
2010 |
Noonan Syndrome
|
0.460 |
GeneticVariation
|
disease |
CLINVAR |
Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.
|
20694012 |
2010 |
Noonan Syndrome
|
0.460 |
CausalMutation
|
disease |
CLINVAR |
Mutations in CBL occur frequently in juvenile myelomonocytic leukemia.
|
19571318 |
2009 |
Noonan Syndrome
|
0.460 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in CBL occur frequently in juvenile myelomonocytic leukemia.
|
19571318 |
2009 |
Noonan Syndrome
|
0.460 |
GeneticVariation
|
disease |
CLINVAR |
Gain-of-function of mutated C-CBL tumour suppressor in myeloid neoplasms.
|
19620960 |
2009 |