|
NOONAN SYNDROME 8
|
0.900 |
Biomarker
|
disease |
MGD |
New Noonan syndrome model mice with RIT1 mutation exhibit cardiac hypertrophy and susceptibility to β-adrenergic stimulation-induced cardiac fibrosis.
|
30898653 |
2019 |
|
NOONAN SYNDROME 8
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study.
|
30712878 |
2019 |
|
NOONAN SYNDROME 8
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.
|
26714497 |
2016 |
|
NOONAN SYNDROME 8
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome.
|
26242988 |
2016 |
|
NOONAN SYNDROME 8
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature.
|
27109146 |
2016 |
|
NOONAN SYNDROME 8
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype.
|
25959749 |
2016 |
|
NOONAN SYNDROME 8
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.
|
26757980 |
2016 |
|
NOONAN SYNDROME 8
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype.
|
25959749 |
2016 |
|
NOONAN SYNDROME 8
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.
|
27101134 |
2016 |
|
NOONAN SYNDROME 8
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Biochemical Classification of Disease-associated Mutants of RAS-like Protein Expressed in Many Tissues (RIT1).
|
27226556 |
2016 |
|
NOONAN SYNDROME 8
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Recent advances in RASopathies.
|
26446362 |
2016 |
|
NOONAN SYNDROME 8
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity.
|
24939608 |
2014 |
|
NOONAN SYNDROME 8
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
The usefulness of whole-exome sequencing in routine clinical practice.
|
24901346 |
2014 |
|
NOONAN SYNDROME 8
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Further evidence of the importance of RIT1 in Noonan syndrome.
|
25124994 |
2014 |
|
NOONAN SYNDROME 8
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Next-generation sequencing identifies rare variants associated with Noonan syndrome.
|
25049390 |
2014 |
|
NOONAN SYNDROME 8
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity.
|
24939608 |
2014 |
|
NOONAN SYNDROME 8
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Oncogenic RIT1 mutations in lung adenocarcinoma.
|
24469055 |
2014 |
|
NOONAN SYNDROME 8
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.
|
23791108 |
2013 |
|
NOONAN SYNDROME 8
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.
|
23791108 |
2013 |
|
NOONAN SYNDROME 8
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.
|
23791108 |
2013 |
|
NOONAN SYNDROME 8
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
[Bone marrow transplantation: principles, indications and results].
|
2657980 |
1989 |
|
NOONAN SYNDROME 8
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Lichenoid tissue reaction (LTR) induced by local transfer of Ia-reactive T-cell clones. II. LTR by epidermal invasion of cytotoxic lymphokine-producing autoreactive T cells.
|
2439608 |
1987 |
|
NOONAN SYNDROME 8
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
NOONAN SYNDROME 8
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
NOONAN SYNDROME 8
|
0.900 |
Biomarker
|
disease |
CTD_human |
|
|
|