|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
Acceptable age for prophylactic surgery in children with multiple endocrine neoplasia type 2a.
|
12711285 |
2003 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
Familial medullary thyroid carcinoma with noncysteine ret mutations: phenotype-genotype relationship in a large series of patients.
|
11502806 |
2001 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
Genotype-phenotype correlations in hereditary medullary thyroid carcinoma: oncological features and biochemical properties.
|
11238493 |
2001 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems.
|
10790203 |
2000 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
Multiple endocrine neoplasia type 2 and RET: from neoplasia to neurogenesis.
|
11073534 |
2000 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
Dual effect on the RET receptor of MEN 2 mutations affecting specific extracytoplasmic cysteines.
|
9879991 |
1998 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
Association of multiple endocrine neoplasia type 2 and Hirschsprung disease.
|
9681852 |
1998 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
GeneticVariation
|
BEFREE |
In this report, we describe a new kindred in which the MEN2 and HSCR phenotypes are associated with a single C620S point mutation at one of the cysteine codons of the extracellular domain of the ret protooncogene.
|
9745455 |
1998 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
Frequency of RET mutations in long- and short-segment Hirschsprung disease.
|
9090527 |
1997 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
Novel germline RET proto-oncogene mutations associated with medullary thyroid carcinoma (MTC): mutation analysis in Japanese patients with MTC.
|
9223675 |
1997 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
Biological properties of Ret with cysteine mutations correlate with multiple endocrine neoplasia type 2A, familial medullary thyroid carcinoma, and Hirschsprung's disease phenotype.
|
9230192 |
1997 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis.
|
8918855 |
1996 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
Clinical presentations and RET protooncogene mutations in seven multiple endocrine neoplasia type 2 kindreds.
|
8909322 |
1996 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease.
|
7633441 |
1995 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
RET proto-oncogene mutations in inherited and sporadic medullary thyroid cancer.
|
7849720 |
1994 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
RET proto-oncogene mutations in French MEN 2A and FMTC families.
|
7874109 |
1994 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene.
|
7881414 |
1994 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC.
|
8103403 |
1993 |