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Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

Identification of 3 novel VHL germ-line mutations in Danish VHL patients

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

  1. Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Studies of association of AGPAT6 variants with type 2 diabetes and related metabolic phenotypes in 12,068 Danes

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Shared heritability and functional enrichment across six solid cancers

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Publisher Correction: Shared heritability and functional enrichment across six solid cancers

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Detection of PMS2 Mutations by Screening Hereditary Nonpolyposis Colon Cancer Families from Denmark and Sweden

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Cell-free DNA in newly diagnosed patients with glioblastoma - a clinical prospective feasibility study

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  5. Exploring the hereditary background of renal cancer in Denmark

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer
von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome in which the patients develop retinal and central nervous system hemangioblastomas, pheochromocytomas and clear-cell renal tumors. The autosomal dominant disease is caused by mutations in the VHL gene.
OriginalsprogEngelsk
TidsskriftB M C Medical Genetics
Vol/bind13
Sider (fra-til)54
ISSN1471-2350
DOI
StatusUdgivet - 2012

ID: 36599843