| http://purl.uniprot.org/citations/17661816 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/17661816 | http://www.w3.org/2000/01/rdf-schema#comment | "The current clinical diagnosis of Von Hippel-Lindau (VHL) disease demands at least one specific [corrected] VHL manifestation in a patient with familial VHL disease, or, in a [corrected] sporadic patient, at least two or more hemangioblastomas or a single hemangioblastoma in combination with a typical visceral lesion. To evaluate this definition, we studied the frequency of germline VHL mutation in three patients groups: (i) multi-organ involvement (classic VHL), (ii) limited VHL manifestations meeting criteria (non-classic VHL) and (iii) patients with VHL-associated tumors not meeting current diagnostic VHL criteria. In addition, we validated multiplex ligation-dependent probe amplification (MLPA) as a rapid and reliable quantitative method for the identification of germline VHL deletions. The frequency of germline VHL mutations was very high in classic VHL cases with multi-organ involvement (95%), lower in non-classic cases that meet current diagnostic criteria but have limited VHL manifestations or single-organ involvement (24%) and low (3.3%), but tangible in cases not meeting current diagnostic VHL criteria. The detection of germline VHL mutations in patients or families with limited VHL manifestations, or single-organ involvement is relevant for follow-up of probands and early identification of at-risk relatives."xsd:string |
| http://purl.uniprot.org/citations/17661816 | http://purl.org/dc/terms/identifier | "doi:10.1111/j.1399-0004.2007.00827.x"xsd:string |
| http://purl.uniprot.org/citations/17661816 | http://purl.uniprot.org/core/author | "Halley D.J."xsd:string |
| http://purl.uniprot.org/citations/17661816 | http://purl.uniprot.org/core/author | "van der Luijt R.B."xsd:string |
| http://purl.uniprot.org/citations/17661816 | http://purl.uniprot.org/core/author | "Pearson P.L."xsd:string |
| http://purl.uniprot.org/citations/17661816 | http://purl.uniprot.org/core/author | "Lips C.J."xsd:string |
| http://purl.uniprot.org/citations/17661816 | http://purl.uniprot.org/core/author | "de Jong G.J."xsd:string |
| http://purl.uniprot.org/citations/17661816 | http://purl.uniprot.org/core/author | "Sijmons R.H."xsd:string |
| http://purl.uniprot.org/citations/17661816 | http://purl.uniprot.org/core/author | "van den Ouweland A.M."xsd:string |
| http://purl.uniprot.org/citations/17661816 | http://purl.uniprot.org/core/author | "Hes F.J."xsd:string |
| http://purl.uniprot.org/citations/17661816 | http://purl.uniprot.org/core/author | "Lenders J.W."xsd:string |
| http://purl.uniprot.org/citations/17661816 | http://purl.uniprot.org/core/author | "Links T.P."xsd:string |
| http://purl.uniprot.org/citations/17661816 | http://purl.uniprot.org/core/author | "Janssen A.L."xsd:string |
| http://purl.uniprot.org/citations/17661816 | http://purl.uniprot.org/core/author | "Luyten G.P."xsd:string |
| http://purl.uniprot.org/citations/17661816 | http://purl.uniprot.org/core/author | "Zewald R.A."xsd:string |
| http://purl.uniprot.org/citations/17661816 | http://purl.uniprot.org/core/author | "Eussen H.J."xsd:string |
| http://purl.uniprot.org/citations/17661816 | http://purl.uniprot.org/core/author | "Majoor-Krakauer D.F."xsd:string |
| http://purl.uniprot.org/citations/17661816 | http://purl.uniprot.org/core/date | "2007"xsd:gYear |
| http://purl.uniprot.org/citations/17661816 | http://purl.uniprot.org/core/name | "Clin Genet"xsd:string |
| http://purl.uniprot.org/citations/17661816 | http://purl.uniprot.org/core/pages | "122-129"xsd:string |
| http://purl.uniprot.org/citations/17661816 | http://purl.uniprot.org/core/title | "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."xsd:string |
| http://purl.uniprot.org/citations/17661816 | http://purl.uniprot.org/core/volume | "72"xsd:string |
| http://purl.uniprot.org/citations/17661816 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/17661816 |
| http://purl.uniprot.org/citations/17661816 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/17661816 |