|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
"Distinction between sporadic and hereditary medullary thyroid carcinoma (MTC) by mutation analysis of the RET proto-oncogene. ""Study Group Multiple Endocrine Neoplasia Austria (SMENA)""."
|
8797874 |
1996 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
A GTG to ATG novel point mutation at codon 804 in exon 14 of the RET proto-oncogene in two families affected by familial medullary thyroid carcinoma.
|
9452077 |
1998 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
A novel de novo germ-line V292M mutation in the extracellular region of RET in a patient with phaeochromocytoma and medullary thyroid carcinoma: functional characterization.
|
20039896 |
2010 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
GeneticVariation
|
BEFREE |
A NOVEL DOUBLE MUTATION VAL648ILE AND VAL804LEU OF RET PROTO-ONCOGENE IN MULTIPLE ENDOCRINE NEOPLASIA TYPE 2.
|
26247112 |
2015 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
Adrenal and extra-adrenal pheochromocytomas in a family with germline RET V804L mutation.
|
10235148 |
1999 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
Asymptomatic bilateral adrenal pheochromocytoma in a patient with a germline V804M mutation in the RET proto-oncogene.
|
17466010 |
2007 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
BAY 43-9006 inhibition of oncogenic RET mutants.
|
16507829 |
2006 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
Biological and biochemical properties of Ret with kinase domain mutations identified in multiple endocrine neoplasia type 2B and familial medullary thyroid carcinoma.
|
10445857 |
1999 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
Characterization of V804M-mutated RET proto-oncogene associated with familial medullary thyroid cancer, report of the largest Turkish family.
|
25501606 |
2015 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
Disease associated mutations at valine 804 in the RET receptor tyrosine kinase confer resistance to selective kinase inhibitors.
|
15184865 |
2004 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
Experience of prophylactic thyroidectomy in multiple endocrine neoplasia type 2A kindreds with RET codon 804 mutations.
|
16343097 |
2005 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
Familial medullary thyroid carcinoma and prominent corneal nerves associated with the germline V804M and V778I mutations on the same allele of RET.
|
11732489 |
2001 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
Familial medullary thyroid carcinoma associated with cutaneous lichen amyloidosis.
|
19445625 |
2009 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
Familial medullary thyroid carcinoma: clinical variability and low aggressiveness associated with RET mutation at codon 804.
|
11932300 |
2002 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
Germline RET sequence variation I852M and occult medullary thyroid cancer: harmless polymorphism or causative mutation?
|
21711375 |
2011 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation.
|
9384613 |
1998 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation.
|
9384613 |
1998 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
Identification of Novel Small Molecule Inhibitors of Oncogenic RET Kinase.
|
26046350 |
2015 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
New era: prophylactic surgery for patients with multiple endocrine neoplasia-2a.
|
16813623 |
2006 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
Novel tandem germline RET proto-oncogene mutations in a patient with multiple endocrine neoplasia type 2B: report of a case and a literature review of tandem RET mutations with in silico analysis.
|
23468374 |
2013 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
Oncogenic activation of RET by two distinct FMTC mutations affecting the tyrosine kinase domain.
|
9242375 |
1997 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
One hundred and seven family members with the rearranged during transfection V804M proto-oncogene mutation presenting with simultaneous medullary and papillary thyroid carcinomas, rare primary hyperparathyroidism, and no pheochromocytomas: is this a new syndrome--MEN 2C?
|
19958926 |
2009 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
Patient affected by neurofibromatosis type 1 and thyroid C-cell hyperplasia harboring pathogenic germ-line mutations in both NF1 and RET genes.
|
24361808 |
2014 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
Prevalence by age and predictors of medullary thyroid cancer in patients with lower risk germline RET proto-oncogene mutations.
|
24617864 |
2014 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
RET codon 804 mutations in multiple endocrine neoplasia 2: genotype-phenotype correlations and implications in clinical management.
|
20497437 |
2011 |