scholarly article | Q13442814 |
P6179 | Dimensions Publication ID | 1010404079 |
P356 | DOI | 10.1038/JHG.2012.10 |
P698 | PubMed publication ID | 22357542 |
P2093 | author name string | Ning Zhang | |
Xi Wang | |||
Dingfang Bu | |||
Kan Gong | |||
Pengjie Wu | |||
Teng Li | |||
Xianghui Ning | |||
P2860 | cites work | von Hippel-Lindau disease: a clinical and scientific review | Q24622030 |
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 function | Q28140184 | ||
von Hippel-Lindau disease | Q28180159 | ||
Clustering of features of von Hippel-Lindau syndrome: evidence for a complex genetic locus | Q28242901 | ||
Neuronal apoptosis linked to EglN3 prolyl hydroxylase and familial pheochromocytoma genes: developmental culling and cancer | Q28267037 | ||
Identification of the von Hippel-Lindau disease tumor suppressor gene | Q29618644 | ||
Genotype-phenotype correlations in von Hippel-Lindau disease. | Q30357251 | ||
von Hippel-Lindau disease | Q30726814 | ||
Mosaicism in von Hippel-Lindau disease: lessons from kindreds with germline mutations identified in offspring with mosaic parents | Q34146220 | ||
Oxygen tension regulates the expression of the platelet-derived growth factor-B chain gene in human endothelial cells | Q34259539 | ||
Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype | Q34327355 | ||
p53 stabilization and transactivation by a von Hippel-Lindau protein | Q34567288 | ||
Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene | Q35440133 | ||
The von Hippel-Lindau Gene, Kidney Cancer, and Oxygen Sensing | Q35564185 | ||
Improved detection of germline mutations in Korean VHL patients by multiple ligation-dependent probe amplification analysis | Q37116791 | ||
Regulation of vascular endothelial growth factor by hypoxia and its modulation by the von Hippel-Lindau tumor suppressor gene | Q41131062 | ||
High frequency of novel germline mutations in the VHL gene in the heterogeneous population of Brazil | Q41876493 | ||
Germline mutations in the von Hippel-Lindau disease (VHL) gene in mainland Chinese families | Q43466454 | ||
Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene | Q44847024 | ||
DHPLC-based germline mutation screening in the analysis of the VHL tumor suppressor gene: usefulness and limitations | Q44847033 | ||
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 disease | Q46169843 | ||
Structural bioinformatics mutation analysis reveals genotype-phenotype correlations in von Hippel-Lindau disease and suggests molecular mechanisms of tumorigenesis | Q47902093 | ||
Molecular analysis of de novo germline mutations in the von Hippel-Lindau disease gene. | Q52887165 | ||
von Hippel-Lindau gene mutation in non-syndromic familial pheochromocytomas | Q79354834 | ||
P433 | issue | 4 | |
P921 | main subject | patient | Q181600 |
von Hippel-Lindau disease | Q741315 | ||
P304 | page(s) | 238-243 | |
P577 | publication date | 2012-02-23 | |
P1433 | published in | Journal of Human Genetics | Q6295302 |
P1476 | title | 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 | |
P478 | volume | 57 |
Q59332961 | A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease |
Q36816186 | Clinical and genetic investigation of a multi-generational Chinese family afflicted with Von Hippel-Lindau disease |
Q44819707 | Clinical and mutation analysis of four Chinese families with von Hippel-Lindau disease |
Q43806776 | Clinical and pathological impact of VHL, PBRM1, BAP1, SETD2, KDM6A, and JARID1c in clear cell renal cell carcinoma. |
Q36567242 | De novo VHL germline mutation detected in a patient with mild clinical phenotype of von Hippel-Lindau disease |
Q64083362 | Distinctive clinicopathological features of Von Hippel-Lindau-associated hereditary renal cell carcinoma: A single-institution study |
Q93613866 | Editorial comment |
Q87047288 | Epidemiological study of a von Hippel-Lindau family in northwest China |
Q36849670 | Genetic evaluation and testing for hereditary forms of cancer in the era of next-generation sequencing |
Q52622727 | Genotype and phenotype correlation in von Hippel-Lindau disease based on alteration of the HIF-α binding site in VHL protein. |
Q47362904 | Genotype phenotype correlation in Asian Indian von Hippel-Lindau (VHL) syndrome patients with pheochromocytoma/paraganglioma |
Q36083146 | Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma |
Q41754374 | Genotype-phenotype analysis of von Hippel-Lindau syndrome in fifteen Indian families. |
Q30252701 | Genotype-phenotype correlations in Chinese von Hippel-Lindau disease patients |
Q44441553 | Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel-Lindau (VHL) disease. |
Q50716433 | Higher prevalence of novel mutations in VHL gene in Chinese Von Hippel-Lindau disease patients. |
Q53121842 | Mosaicism in von Hippel-Lindau disease with severe renal manifestations. |
Q38646901 | Shorter telomere length increases age-related tumor risks in von Hippel-Lindau disease patients. |
Q47157369 | The impact of hereditary cancer gene panels on clinical care and lessons learned |
Q87457637 | Von Hippel-Lindau disease type 2 in a Chinese family with a VHL p.W88X truncation |