Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations.
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von Hippel-Lindau disease: a clinical and scientific reviewPheochromocytomas and Paragangliomas: Clinical and Genetic ApproachesVHL c.505 T>C mutation confers a high age related penetrance but no increased overall mortalityMutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCCGenotype-phenotype correlations in Chinese von Hippel-Lindau disease patients.The spectrum of mutations in TSC1 and TSC2 in women with tuberous sclerosis and lymphangiomyomatosis.The ubiquitin system, disease, and drug discovery.Haploinsufficiency in tumor predisposition syndromes: altered genomic transcription in morphologically normal cells heterozygous for VHL or TSC mutation.Molecular markers of paragangliomas/pheochromocytomasParagangliomas/Pheochromocytomas: clinically oriented genetic testingScreening children at risk of developing inherited endocrine neoplasia syndromes.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.10 rare tumors that warrant a genetics referral.An analysis of phenotypic variation in the familial cancer syndrome von Hippel-Lindau disease: evidence for modifier effects.Three novel germ-line VHL mutations in Hungarian von Hippel-Lindau patients, including a nonsense mutation in a fifteen-year-old boy with renal cell carcinomaRapid mutation scanning of genes associated with familial cancer syndromes using denaturing high-performance liquid chromatography.Somatic inactivation of the VHL gene in Von Hippel-Lindau disease tumors.Cryptic von Hippel-Lindau disease: germline mutations in patients with haemangioblastoma onlyFamilial clear cell renal cell carcinoma (FCRC): clinical features and mutation analysis of the VHL, MET, and CUL2 candidate genes.Distinct deregulation of the hypoxia inducible factor by PHD2 mutants identified in germline DNA of patients with polycythemiaE2-EPF UCP regulates stability and functions of missense mutant pVHL via ubiquitin mediated proteolysis.Advanced renal cell carcinoma associated with von Hippel-Lindau disease: A case report and review of the literatureLongitudinal analysis of retinal hemangioblastomatosis and visual function in ocular von Hippel-Lindau diseaseEmerging drugs for the treatment of metastatic renal cancer.Improved detection of germline mutations in Korean VHL patients by multiple ligation-dependent probe amplification analysisThe von Hippel-Lindau gene: turning discovery into therapy.Hereditary kidney cancer syndromes.Structured assessment and followup for patients with hereditary kidney tumour syndromes.Mendelian genetics of rare--and not so rare--cancers.Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background.Genetics and molecular pathogenesis of pheochromocytoma and paraganglioma.Molecular-genetic diagnostics of von Hippel-Lindau syndrome (VHL) in Bulgaria: first complex mutation event in the VHL gene.Shorter telomere length increases age-related tumor risks in von Hippel-Lindau disease patients.Detection of large deletions in the VHL gene using a Real-Time PCR with SYBR Green.Molecular Characterization of a Novel Germline VHL Mutation by Extensive In Silico Analysis in an Indian Family with Von Hippel-Lindau Disease.Software and database for the analysis of mutations in the VHL gene.Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis.Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma.Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients.Familial and genetic researches on three Chinese families with von Hippel-Lindau disease.
P2860
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P2860
Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations.
description
1996 nî lūn-bûn
@nan
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
1996年论文
@zh
1996年论文
@zh-cn
name
Phenotypic expression in von H ...... h germline VHL gene mutations.
@en
Phenotypic expression in von H ...... h germline VHL gene mutations.
@nl
type
label
Phenotypic expression in von H ...... h germline VHL gene mutations.
@en
Phenotypic expression in von H ...... h germline VHL gene mutations.
@nl
prefLabel
Phenotypic expression in von H ...... h germline VHL gene mutations.
@en
Phenotypic expression in von H ...... h germline VHL gene mutations.
@nl
P2093
P2860
P356
P1476
Phenotypic expression in von H ...... h germline VHL gene mutations.
@en
P2093
A R Webster
F M Richards
P A Crossey
P2860
P304
P356
10.1136/JMG.33.4.328
P407
P577
1996-04-01T00:00:00Z