|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma.
|
25810047 |
2015 |
|
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 |
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 |
Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma.
|
25810047 |
2015 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
Twenty years of lesson learning: how does the RET genetic screening test impact the clinical management of medullary thyroid cancer?
|
25440022 |
2015 |
|
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 |
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 |
Tandem Germline RET Mutations in a Family Pathogenetic for Multiple Endocrine Neoplasia 2B, Confirmed by a Natural Experiment.
|
25759805 |
2014 |
|
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 |
RET codon 804 mutations in multiple endocrine neoplasia 2: genotype-phenotype correlations and implications in clinical management.
|
20497437 |
2011 |
|
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 |
RET codon 804 mutations in multiple endocrine neoplasia 2: genotype-phenotype correlations and implications in clinical management.
|
20497437 |
2011 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
Single nucleotide polymorphisms act as modifiers and correlate with the development of medullary and simultaneous medullary/papillary thyroid carcinomas in 2 large, non-related families with the RET V804M proto-oncogene mutation.
|
21134561 |
2010 |
|
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 |
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 |
Familial medullary thyroid carcinoma associated with cutaneous lichen amyloidosis.
|
19445625 |
2009 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
RET proto-oncogene in Sardinia: V804M is the most frequent mutation and may be associated with FMTC/MEN-2A phenotype.
|
17316110 |
2007 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
RET genetic screening in patients with medullary thyroid cancer and their relatives: experience with 807 individuals at one center.
|
17895320 |
2007 |
|
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 |
New era: prophylactic surgery for patients with multiple endocrine neoplasia-2a.
|
16813623 |
2006 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
GeneticVariation
|
BEFREE |
Some studies have suggested that the V804L mutation causes the low penetrance multiple endocrine neoplasia type 2 syndrome, with late onset and relatively indolent course, whereas others have reported that V804L and V804M have an aggressive potential.
|
15741265 |
2005 |
|
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 |
Some studies have suggested that the V804L mutation causes the low penetrance multiple endocrine neoplasia type 2 syndrome, with late onset and relatively indolent course, whereas others have reported that V804L and V804M have an aggressive potential.
|
15741265 |
2005 |