Linked Life Data

10735135

Source:http://linkedlifedata.com/resource/pubmed/id/10735135

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
11
pubmed:dateCreated
2000-4-26
pubmed:abstractText
Von Hippel-Lindau disease (VHL) is an autosomal dominantly inherited syndrome with high penetrance, characterised by tumours in various organs. The Dutch VHL working group presents guidelines for DNA testing and clinical monitoring, to enhance early detection and treatment of VHL patients in the Netherlands. Diagnosis of VHL is justified in patients presenting with a typical VHL tumour with a positive family history, but patients with a VHL tumour and a negative family history may also have VHL. Diagnosis of VHL can be confirmed by molecular genetic analysis of the VHL gene which is informative in virtually all VHL families. In a patient with (suspicion for) VHL there is an indication for genetic counselling. A protocol for clinical monitoring of VHL is presented and is recommended for: carriers of a VHL germline mutation; members of VHL families with an unknown familial mutation; members of VHL families who decline testing of the familial mutation; patients suspected for VHL, but without a detectable VHL gene mutation.
pubmed:commentsCorrections
pubmed:language
dut
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0028-2162
pubmed:author
pubmed:issnType
Print
pubmed:day
11
pubmed:volume
144
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
505-9
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:year
2000
pubmed:articleTitle
[Von Hippel-Lindau disease: protocols for diagnosis and periodical clinical monitoring. National Von Hippel-Lindau Disease Working Group].
pubmed:affiliation
Divisie Medische Genetica, Universitair Medisch Centrum, Utrecht.
pubmed:publicationType
Journal Article, Guideline, English Abstract, Practice Guideline