Associated Papers
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › VHL
Risk prediction for metastasis of clear cell renal cell carcinoma using digital multiplex ligation-dependent probe amplification.
Yoshikawa Y et al.
Cancer Science, 2022
34687579 (PubMed )
Supplement: CAS-113-297-s001.xlsx › Table_S3
Transcriptomic characterization and innovative molecular classification of clear cell renal cell carcinoma in the Chinese population.
Zhao Q et al.
Cancer Cell International, 2020
32982583 (PubMed )
Supplement: 12935_2020_1552_MOESM2_ESM.xlsx › Table_S1_a
von Hippel-Lindau development in children and adolescents.
Launbjerg K et al.
American Journal of Medical Genetics. Part A, 2017
Characterization of VHL missense mutations in sporadic clear cell renal cell carcinoma: hotspots, affected binding domains, functional impact on pVHL and therapeutic relevance.
Razafinjatovo C et al.
Bmc Cancer, 2016
Gender Specific Mutation Incidence and Survival Associations in Clear Cell Renal Cell Carcinoma (CCRCC).
Ricketts CJ et al.
Plos One, 2015
26484545 (PubMed )
Supplement: pone.0140257.s003.xlsx › Sheet1
Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel-Lindau (VHL) disease.
Hwang S et al.
Journal of Human Genetics, 2014
Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?).
Bento C et al.
European Journal of Haematology, 2013
Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes.
Dalgliesh GL et al.
Nature, 2010
20054297 (PubMed )
Supplement: NIHMS28099-supplement-7.xls › Renal4000Followup_context
Improved detection of germline mutations in Korean VHL patients by multiple ligation-dependent probe amplification analysis.
Cho HJ et al.
Journal of Korean Medical Science, 2009
Pancreatic involvement in Korean patients with von Hippel-Lindau disease.
Lee KH et al.
Journal of Gastroenterology, 2009
Spinal cord hemangioblastoma : diagnosis and clinical outcome after surgical treatment.
Na JH et al.
Journal of Korean Neurosurgical Society, 2007
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