Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome.
about
RET germline mutations identified by exome sequencing in a Chinese multiple endocrine neoplasia type 2A/familial medullary thyroid carcinoma familyMultiple endocrine neoplasia type 2: an overviewGermline RET sequence variation I852M and occult medullary thyroid cancer: harmless polymorphism or causative mutation?Management of Gene Variants of Unknown Significance: Analysis Method and Risk Assessment of the VHL Mutation p.P81S (c.241C>T)Identification of 3 novel VHL germ-line mutations in Danish VHL patientsAge-related penetrance of hereditary atypical hemolytic uremic syndrome.Prevalence by age and predictors of medullary thyroid cancer in patients with lower risk germline RET proto-oncogene mutations.A mutation at IVS1 + 5 of the von Hippel-Lindau gene resulting in intron retention in transcripts is not pathogenic in a patient with a tongue cancer?: case report.Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility.Genotype-phenotype correlation in multiple endocrine neoplasia type 2RET mutation p.S891A in a Chinese family with familial medullary thyroid carcinoma and associated cutaneous amyloidosis binding OSMR variant p.G513D.Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast CancerA differential diagnosis of inherited endocrine tumors and their tumor counterpartsGermline mutations in the VHL gene associated with 3 different renal lesions in a Chinese von Hippel-Lindau disease family.A patient with MEN1 typical features and MEN2-like features.Integrative genetic characterization and phenotype correlations in pheochromocytoma and paraganglioma tumours.Mendelian genetics of rare--and not so rare--cancers.Molecular mechanisms of RET receptor-mediated oncogenesis in multiple endocrine neoplasia 2.Genetics and molecular pathogenesis of pheochromocytoma and paraganglioma.Next-generation sequencing in the clinical genetic screening of patients with pheochromocytoma and paraganglioma.Molecular Characterization of a Novel Germline VHL Mutation by Extensive In Silico Analysis in an Indian Family with Von Hippel-Lindau Disease.The genomic landscape of phaeochromocytoma.Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel-Lindau (VHL) disease.Testing new susceptibility genes in the cohort of apparently sporadic phaeochromocytoma/paraganglioma patients with clinical characteristics of hereditary syndromes.Hereditary and familial thyroid tumours.Growth kinetics in von Hippel-Lindau-associated renal cell carcinoma.An unusual genotype-phenotype correlation in MEN 2 patients: should screening for RET double germline mutations be performed to avoid misleading diagnosis and treatment?Multiple Endocrine Neoplasia Syndromes from Genetic and Epigenetic Perspectives.
P2860
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P2860
Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome.
description
2009 nî lūn-bûn
@nan
2009 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Pathogenicity of DNA variants ...... nd von Hippel-Lindau syndrome.
@ast
Pathogenicity of DNA variants ...... nd von Hippel-Lindau syndrome.
@en
Pathogenicity of DNA variants ...... nd von Hippel-Lindau syndrome.
@nl
type
label
Pathogenicity of DNA variants ...... nd von Hippel-Lindau syndrome.
@ast
Pathogenicity of DNA variants ...... nd von Hippel-Lindau syndrome.
@en
Pathogenicity of DNA variants ...... nd von Hippel-Lindau syndrome.
@nl
prefLabel
Pathogenicity of DNA variants ...... nd von Hippel-Lindau syndrome.
@ast
Pathogenicity of DNA variants ...... nd von Hippel-Lindau syndrome.
@en
Pathogenicity of DNA variants ...... nd von Hippel-Lindau syndrome.
@nl
P2093
P2860
P50
P356
P1476
Pathogenicity of DNA variants ...... nd von Hippel-Lindau syndrome.
@en
P2093
Andrzej Januszewicz
Dariusz Waligorski
Gerlind Franke
Hartmut P H Neumann
Helmut E Gabbert
Igor Harsch
Maren Sullivan
Mariola Peczkowska
Matthias Schott
Matti Valimäki
P2860
P304
P356
10.1210/JC.2009-1728
P407
P577
2009-11-11T00:00:00Z