Condition: NOONAN SYNDROME 8


rs1557962794 in RIT1 gene and NOONAN SYNDROME 8 PMID 27101134 2016 Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.

PMID 27109146 2016 Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature.

PMID 25959749 2016 Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype.

PMID 23791108 2013 Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.

PMID 24939608 2014 Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity.

PMID 25049390 2014 Next-generation sequencing identifies rare variants associated with Noonan syndrome.

PMID 26757980 2016 Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.

PMID 27226556 2016 Biochemical Classification of Disease-associated Mutants of RAS-like Protein Expressed in Many Tissues (RIT1).

PMID 24901346 2014 The usefulness of whole-exome sequencing in routine clinical practice.

PMID 26714497 2016 Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.

PMID 25124994 2014 Further evidence of the importance of RIT1 in Noonan syndrome.

PMID 2439608 1987 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.

PMID 26242988 2016 The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome.

PMID 24469055 2014 Oncogenic RIT1 mutations in lung adenocarcinoma.

PMID 26446362 2016 Recent advances in RASopathies.

PMID 2657980 1989 [Bone marrow transplantation: principles, indications and results].