Mosaicism in von Hippel-Lindau disease: lessons from kindreds with germline mutations identified in offspring with mosaic parents.
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Age related shift in the mutation spectra of germline and somatic NF2 mutations: hypothetical role of DNA repair mechanisms.Paragangliomas/Pheochromocytomas: clinically oriented genetic testingVHL mosaicism can be detected by clinical next-generation sequencing and is not restricted to patients with a mild phenotypeMutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cellsOcular von Hippel-Lindau disease: clinical update and emerging treatments.Low VHL mRNA expression is associated with more aggressive tumor features of papillary thyroid carcinoma.von Hippel-Lindau disease: recent advances and therapeutic perspectives.Cryptic von Hippel-Lindau disease: germline mutations in patients with haemangioblastoma onlyMosaicism in von Hippel-Lindau disease: an event important to recognize.Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastomaNeurologic manifestations of von Hippel-Lindau diseaseGenetic counseling in renal masses.Improved detection of germline mutations in Korean VHL patients by multiple ligation-dependent probe amplification analysisHereditary kidney cancer syndromes.Detection of large deletions in the VHL gene using a Real-Time PCR with SYBR Green.Prevalence, birth incidence, and penetrance of von Hippel-Lindau disease (vHL) in Denmark.An endonuclease/ligase based mutation scanning method especially suited for analysis of neoplastic tissue.Solitary retinal capillary hemangioma: lack of genetic evidence for von Hippel-Lindau disease.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.Genetics of Von Hippel-Lindau Disease.Neuroprotective effects respond to cerebral ischemia without susceptibility to HB-tumorigenesis in VHL heterozygous knockout mice.Management Strategies and Outcomes for VHL-related Craniospinal Hemangioblastomas.Mosaicism in von Hippel-Lindau disease with severe renal manifestations.Von Hippel-Lindau disease.Sequencing of Von Hippel-Lindau (VHL) Gene from Genomic DNA for Mutation Detection in Italian Patients.Von Hippel-Lindau Disease.Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification
P2860
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P2860
Mosaicism in von Hippel-Lindau disease: lessons from kindreds with germline mutations identified in offspring with mosaic parents.
description
2000 nî lūn-bûn
@nan
2000 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Mosaicism in von Hippel-Lindau ...... offspring with mosaic parents.
@ast
Mosaicism in von Hippel-Lindau ...... offspring with mosaic parents.
@en
Mosaicism in von Hippel-Lindau ...... offspring with mosaic parents.
@nl
type
label
Mosaicism in von Hippel-Lindau ...... offspring with mosaic parents.
@ast
Mosaicism in von Hippel-Lindau ...... offspring with mosaic parents.
@en
Mosaicism in von Hippel-Lindau ...... offspring with mosaic parents.
@nl
prefLabel
Mosaicism in von Hippel-Lindau ...... offspring with mosaic parents.
@ast
Mosaicism in von Hippel-Lindau ...... offspring with mosaic parents.
@en
Mosaicism in von Hippel-Lindau ...... offspring with mosaic parents.
@nl
P2093
P2860
P356
P1476
Mosaicism in von Hippel-Lindau ...... offspring with mosaic parents.
@en
P2093
Linehan WM
Sgambati MT
Walther MM
P2860
P356
10.1086/302726
P407
P577
2000-01-01T00:00:00Z