|
Multiple Endocrine Neoplasia Type 2a
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.
|
25394175 |
2015 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.810 |
GeneticVariation
|
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.
|
24893135 |
2014 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.810 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: multiple endocrine neoplasia type 2.
|
21863057 |
2012 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.810 |
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 2a
|
|
0.810 |
GeneticVariation
|
BEFREE |
MEN2A (C618S), MEN2A/familial MTC (FMTC) (C620S), and MEN2B (M918T).
|
22199277 |
2011 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.810 |
CausalMutation
|
CLINVAR |
The North American Neuroendocrine Tumor Society consensus guideline for the diagnosis and management of neuroendocrine tumors: pheochromocytoma, paraganglioma, and medullary thyroid cancer.
|
20664475 |
2010 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Medullary thyroid cancer: management guidelines of the American Thyroid Association.
|
19469690 |
2009 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.810 |
CausalMutation
|
CLINVAR |
RET mutation Tyr791Phe: the genetic cause of different diseases derived from neural crest.
|
19826964 |
2009 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.810 |
CausalMutation
|
CLINVAR |
Mutational spectrum of multiple endocrine neoplasia type 2 and sporadic medullary thyroid carcinoma in taiwan.
|
19443294 |
2009 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.810 |
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 2a
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Guidelines for diagnosis and therapy of MEN type 1 and type 2.
|
11739416 |
2001 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.810 |
GeneticVariation
|
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 2a
|
|
0.810 |
CausalMutation
|
CLINVAR |
Clinical presentations and RET protooncogene mutations in seven multiple endocrine neoplasia type 2 kindreds.
|
8909322 |
1996 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.810 |
GeneticVariation
|
UNIPROT |
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 2a
|
|
0.810 |
CausalMutation
|
CLINVAR |
Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests.
|
7915165 |
1994 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.810 |
CausalMutation
|
CLINVAR |
RET proto-oncogene mutations in French MEN 2A and FMTC families.
|
7874109 |
1994 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.810 |
CausalMutation
|
CLINVAR |
|
|
|