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 |
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 |
RET proto-oncogene mutations in inherited and sporadic medullary thyroid cancer.
|
7849720 |
1994 |
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
Pyrosequencing technology as a method for the diagnosis of multiple endocrine neoplasia type 2.
|
14718397 |
2004 |
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 |
Genotype-phenotype correlations in hereditary medullary thyroid carcinoma: oncological features and biochemical properties.
|
11238493 |
2001 |
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 |
Frequency of RET mutations in long- and short-segment Hirschsprung disease.
|
9090527 |
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 |
Skewed mutational spectrum of RET proto-oncogene Exon10 in Iranian patients with medullary thyroid carcinoma.
|
25694125 |
2015 |
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 |
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 |
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 |
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 testing in infants presenting with Hirschsprung disease identifies 2 new multiple endocrine neoplasia 2A kindreds.
|
18206480 |
2008 |
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 |
Thyroid cancer and co-occurring RET mutations in Hirschsprung disease.
|
23744765 |
2013 |
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 |
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
|
|
0.720 |
CausalMutation
|
CLINVAR |
RET proto-oncogene mutations in French MEN 2A and FMTC families.
|
7874109 |
1994 |
Multiple endocrine neoplasia Type 2
|
|
0.720 |
CausalMutation
|
CLINVAR |
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 |
"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 |
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 |
Predominant RET Germline Mutations in Exons 10, 11, and 16 in Iranian Patients with Hereditary Medullary Thyroid Carcinoma.
|
21765987 |
2011 |