Family history of von Hippel-Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients

scientific article published on 23 February 2012

Family history of von Hippel-Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients is …
instance of (P31):
scholarly articleQ13442814

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P6179Dimensions Publication ID1010404079
P356DOI10.1038/JHG.2012.10
P698PubMed publication ID22357542

P2093author name stringNing Zhang
Xi Wang
Dingfang Bu
Kan Gong
Pengjie Wu
Teng Li
Xianghui Ning
P2860cites workvon Hippel-Lindau disease: a clinical and scientific reviewQ24622030
Up-regulation of hypoxia-inducible factors HIF-1alpha and HIF-2alpha under normoxic conditions in renal carcinoma cells by von Hippel-Lindau tumor suppressor gene loss of functionQ28140184
von Hippel-Lindau diseaseQ28180159
Clustering of features of von Hippel-Lindau syndrome: evidence for a complex genetic locusQ28242901
Neuronal apoptosis linked to EglN3 prolyl hydroxylase and familial pheochromocytoma genes: developmental culling and cancerQ28267037
Identification of the von Hippel-Lindau disease tumor suppressor geneQ29618644
Genotype-phenotype correlations in von Hippel-Lindau disease.Q30357251
von Hippel-Lindau diseaseQ30726814
Mosaicism in von Hippel-Lindau disease: lessons from kindreds with germline mutations identified in offspring with mosaic parentsQ34146220
Oxygen tension regulates the expression of the platelet-derived growth factor-B chain gene in human endothelial cellsQ34259539
Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotypeQ34327355
p53 stabilization and transactivation by a von Hippel-Lindau proteinQ34567288
Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL geneQ35440133
The von Hippel-Lindau Gene, Kidney Cancer, and Oxygen SensingQ35564185
Improved detection of germline mutations in Korean VHL patients by multiple ligation-dependent probe amplification analysisQ37116791
Regulation of vascular endothelial growth factor by hypoxia and its modulation by the von Hippel-Lindau tumor suppressor geneQ41131062
High frequency of novel germline mutations in the VHL gene in the heterogeneous population of BrazilQ41876493
Germline mutations in the von Hippel-Lindau disease (VHL) gene in mainland Chinese familiesQ43466454
Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor geneQ44847024
DHPLC-based germline mutation screening in the analysis of the VHL tumor suppressor gene: usefulness and limitationsQ44847033
Molecularly genetic analysis of von Hippel-Lindau associated central nervous system hemangioblastoma.Q45966988
Familial and genetic researches on three Chinese families with von Hippel-Lindau diseaseQ46169843
Structural bioinformatics mutation analysis reveals genotype-phenotype correlations in von Hippel-Lindau disease and suggests molecular mechanisms of tumorigenesisQ47902093
Molecular analysis of de novo germline mutations in the von Hippel-Lindau disease gene.Q52887165
von Hippel-Lindau gene mutation in non-syndromic familial pheochromocytomasQ79354834
P433issue4
P921main subjectpatientQ181600
von Hippel-Lindau diseaseQ741315
P304page(s)238-243
P577publication date2012-02-23
P1433published inJournal of Human GeneticsQ6295302
P1476titleFamily history of von Hippel-Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients
P478volume57

Reverse relations

cites work (P2860)
Q59332961A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease
Q36816186Clinical and genetic investigation of a multi-generational Chinese family afflicted with Von Hippel-Lindau disease
Q44819707Clinical and mutation analysis of four Chinese families with von Hippel-Lindau disease
Q43806776Clinical and pathological impact of VHL, PBRM1, BAP1, SETD2, KDM6A, and JARID1c in clear cell renal cell carcinoma.
Q36567242De novo VHL germline mutation detected in a patient with mild clinical phenotype of von Hippel-Lindau disease
Q64083362Distinctive clinicopathological features of Von Hippel-Lindau-associated hereditary renal cell carcinoma: A single-institution study
Q93613866Editorial comment
Q87047288Epidemiological study of a von Hippel-Lindau family in northwest China
Q36849670Genetic evaluation and testing for hereditary forms of cancer in the era of next-generation sequencing
Q52622727Genotype and phenotype correlation in von Hippel-Lindau disease based on alteration of the HIF-α binding site in VHL protein.
Q47362904Genotype phenotype correlation in Asian Indian von Hippel-Lindau (VHL) syndrome patients with pheochromocytoma/paraganglioma
Q36083146Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma
Q41754374Genotype-phenotype analysis of von Hippel-Lindau syndrome in fifteen Indian families.
Q30252701Genotype-phenotype correlations in Chinese von Hippel-Lindau disease patients
Q44441553Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel-Lindau (VHL) disease.
Q50716433Higher prevalence of novel mutations in VHL gene in Chinese Von Hippel-Lindau disease patients.
Q53121842Mosaicism in von Hippel-Lindau disease with severe renal manifestations.
Q38646901Shorter telomere length increases age-related tumor risks in von Hippel-Lindau disease patients.
Q47157369The impact of hereditary cancer gene panels on clinical care and lessons learned
Q87457637Von Hippel-Lindau disease type 2 in a Chinese family with a VHL p.W88X truncation