|
Multiple endocrine neoplasia Type 2
|
|
0.710 |
CausalMutation
|
CLINVAR |
Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10.
|
20979234 |
2011 |
|
Multiple endocrine neoplasia Type 2
|
|
0.710 |
CausalMutation
|
CLINVAR |
Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10.
|
20979234 |
2011 |
|
Multiple endocrine neoplasia Type 2
|
|
0.710 |
CausalMutation
|
CLINVAR |
Mutational spectrum of multiple endocrine neoplasia type 2 and sporadic medullary thyroid carcinoma in taiwan.
|
19443294 |
2009 |
|
Multiple endocrine neoplasia Type 2
|
|
0.710 |
CausalMutation
|
CLINVAR |
Familial prevalence and age of RET germline mutations: implications for screening.
|
18062802 |
2008 |
|
Multiple endocrine neoplasia Type 2
|
|
0.710 |
CausalMutation
|
CLINVAR |
Histopathologic and clinical features of medullary microcarcinoma and C-cell hyperplasia in prophylactic thyroidectomies for medullary carcinoma: a study of 42 cases.
|
18976013 |
2008 |
|
Multiple endocrine neoplasia Type 2
|
|
0.710 |
CausalMutation
|
CLINVAR |
Pheochromocytoma penetrance varies by RET mutation in MEN 2A.
|
18063059 |
2007 |
|
Multiple endocrine neoplasia Type 2
|
|
0.710 |
CausalMutation
|
CLINVAR |
Pheochromocytoma penetrance varies by RET mutation in MEN 2A.
|
18063059 |
2007 |
|
Multiple endocrine neoplasia Type 2
|
|
0.710 |
CausalMutation
|
CLINVAR |
Long-term outcome in 46 gene carriers of hereditary medullary thyroid carcinoma after prophylactic thyroidectomy: impact of individual RET genotype.
|
16868135 |
2006 |
|
Multiple endocrine neoplasia Type 2
|
|
0.710 |
CausalMutation
|
CLINVAR |
A new germline RET mutation apparently devoid of transforming activity serendipitously discovered in a patient with atrophic autoimmune thyroiditis and primary ovarian failure.
|
15472167 |
2004 |
|
Multiple endocrine neoplasia Type 2
|
|
0.710 |
CausalMutation
|
CLINVAR |
The RET C620S mutation causes multiple endocrine neoplasia type 2A (MEN2A) but not Hirschsprung disease (HSCR) in a family cosegregating both phenotypes.
|
14517954 |
2003 |
|
Multiple endocrine neoplasia Type 2
|
|
0.710 |
CausalMutation
|
CLINVAR |
Mutational analysis of the RET proto-oncogene in a kindred with multiple endocrine neoplasia type 2A and Hirschsprung's disease.
|
10549772 |
1999 |
|
Multiple endocrine neoplasia Type 2
|
|
0.710 |
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
|
|
0.710 |
CausalMutation
|
CLINVAR |
Germ line mutation analysis in families with multiple endocrine neoplasia type 2A or familial medullary thyroid carcinoma.
|
9820617 |
1998 |
|
Multiple endocrine neoplasia Type 2
|
|
0.710 |
CausalMutation
|
CLINVAR |
Association of multiple endocrine neoplasia type 2 and Hirschsprung disease.
|
9681852 |
1998 |
|
Multiple endocrine neoplasia Type 2
|
|
0.710 |
CausalMutation
|
CLINVAR |
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
|
|
0.710 |
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
|
|
0.710 |
CausalMutation
|
CLINVAR |
The different RET-activating capability of mutations of cysteine 620 or cysteine 634 correlates with the multiple endocrine neoplasia type 2 disease phenotype.
|
9012462 |
1997 |
|
Multiple endocrine neoplasia Type 2
|
|
0.710 |
CausalMutation
|
CLINVAR |
Clinical presentations and RET protooncogene mutations in seven multiple endocrine neoplasia type 2 kindreds.
|
8909322 |
1996 |
|
Multiple endocrine neoplasia Type 2
|
|
0.710 |
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
|
|
0.710 |
CausalMutation
|
CLINVAR |
Predictive DNA testing and prophylactic thyroidectomy in patients at risk for multiple endocrine neoplasia type 2A.
|
7916559 |
1994 |
|
Multiple endocrine neoplasia Type 2
|
|
0.710 |
CausalMutation
|
CLINVAR |
RET proto-oncogene mutations in French MEN 2A and FMTC families.
|
7874109 |
1994 |
|
Multiple endocrine neoplasia Type 2
|
|
0.710 |
CausalMutation
|
CLINVAR |
RET proto-oncogene mutations in French MEN 2A and FMTC families.
|
7874109 |
1994 |
|
Multiple endocrine neoplasia Type 2
|
|
0.710 |
CausalMutation
|
CLINVAR |
Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC.
|
8103403 |
1993 |