rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
1999-12-29
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pubmed:abstractText |
Haemangioblastoma of the CNS occurs as a sporadic entity and as a manifestation of the autosomal dominant von Hippel-Lindau disease with the major additional components retinal angioma, renal cancer, and pheochromocytoma. Genetic testing for germline mutations predisposing to von Hippel-Lindau disease has been available since identification of the VHL tumour suppressor gene. The impact of this testing was evaluated in patients with haemangioblastomas seen in this centre.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/10567493-1670750,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10567493-2642584,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10567493-2909683,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10567493-3310444,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10567493-7670659,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10567493-7915601,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10567493-8493574,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10567493-8929948,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10567493-9399847,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10567493-9681856,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10567493-9829911
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pubmed:language |
eng
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pubmed:journal |
|
pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
0022-3050
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pubmed:author |
|
pubmed:issnType |
Print
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pubmed:volume |
67
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
758-62
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:10567493-Adolescent,
pubmed-meshheading:10567493-Adult,
pubmed-meshheading:10567493-Aged,
pubmed-meshheading:10567493-Axons,
pubmed-meshheading:10567493-Cerebellar Neoplasms,
pubmed-meshheading:10567493-Child,
pubmed-meshheading:10567493-DNA Mutational Analysis,
pubmed-meshheading:10567493-Female,
pubmed-meshheading:10567493-Gene Expression Regulation, Neoplastic,
pubmed-meshheading:10567493-Genes, Tumor Suppressor,
pubmed-meshheading:10567493-Genetic Predisposition to Disease,
pubmed-meshheading:10567493-Germ-Line Mutation,
pubmed-meshheading:10567493-Hemangioblastoma,
pubmed-meshheading:10567493-Hemangioma,
pubmed-meshheading:10567493-Heterozygote,
pubmed-meshheading:10567493-Humans,
pubmed-meshheading:10567493-Kidney Neoplasms,
pubmed-meshheading:10567493-Male,
pubmed-meshheading:10567493-Middle Aged,
pubmed-meshheading:10567493-Molecular Biology,
pubmed-meshheading:10567493-Pheochromocytoma,
pubmed-meshheading:10567493-Polymorphism, Genetic,
pubmed-meshheading:10567493-Retinal Neoplasms,
pubmed-meshheading:10567493-Sensitivity and Specificity,
pubmed-meshheading:10567493-von Hippel-Lindau Disease
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pubmed:year |
1999
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pubmed:articleTitle |
The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system.
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pubmed:affiliation |
Department of Nephrology and Hypertension, Albert-Ludwigs- University, Freiburg, Germany.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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