|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
"Familial associations in medullary thyroid carcinoma with Hirschsprung disease: the role of the RET-C620 ""Janus"" genetic variation."
|
20152359 |
2010 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
A cohort study on 10-year survival of sporadic medullary thyroid carcinoma with somatic RET mutation.
|
27847096 |
2016 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
A cysteine radical mutation (C620R) (2 patients) was related to Multiple Endocrine Neoplasia Type 2 (MEN2) in the family.
|
19853744 |
2009 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
GeneticVariation
|
BEFREE |
A cysteine radical mutation (C620R) (2 patients) was related to Multiple Endocrine Neoplasia Type 2 (MEN2) in the family.
|
19853744 |
2009 |
|
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 |
Association of multiple endocrine neoplasia type 2 and Hirschsprung disease.
|
9681852 |
1998 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
Biological effects of the dual phenotypic Janus mutation of ret cosegregating with both multiple endocrine neoplasia type 2 and Hirschsprung's disease.
|
14715928 |
2004 |
|
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 |
C620R mutation of the murine ret proto-oncogene: loss of function effect in homozygotes and possible gain of function effect in heterozygotes.
|
17372903 |
2007 |
|
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 |
Comprehensive Genomic Profiling of Clinically Advanced Medullary Thyroid Carcinoma.
|
27207748 |
2016 |
|
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 |
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 |
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 |
Familial prevalence and age of RET germline mutations: implications for screening.
|
18062802 |
2008 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
Founder Effect of the RETC611Y Mutation in Multiple Endocrine Neoplasia 2A in Denmark: A Nationwide Study.
|
29020875 |
2017 |
|
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 |
Genotype-phenotype correlations in hereditary medullary thyroid carcinoma: oncological features and biochemical properties.
|
11238493 |
2001 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2.
|
19336503 |
2009 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
Hirschsprung's disease and medullary thyroid carcinoma: 15-year experience with molecular genetic screening of the RET proto-oncogene.
|
21986619 |
2012 |
|
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 |
Medullary thyroid cancer: management guidelines of the American Thyroid Association.
|
19469690 |
2009 |
|
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 |
Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease.
|
7633441 |
1995 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC.
|
8103403 |
1993 |