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  1. Article: SDHAF2

    de Jong, Monique A M / Corssmit, Eleonora P M / Jansen, Jeroen C / Potjer, Thomas P / Bayley, Jean-Pierre L / Hensen, Erik F

    Case reports in otolaryngology

    2024  Volume 2024, Page(s) 2111531

    Abstract: Head and neck paragangliomas are slow growing and highly vascular neuroendocrine tumors. It is currently assumed ... ...

    Abstract Head and neck paragangliomas are slow growing and highly vascular neuroendocrine tumors. It is currently assumed that
    Language English
    Publishing date 2024-03-20
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2648756-1
    ISSN 2090-6773 ; 2090-6765
    ISSN (online) 2090-6773
    ISSN 2090-6765
    DOI 10.1155/2024/2111531
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Low penetrance of a SDHB mutation in a large Dutch paraganglioma family

    Jansen Jeroen C / Romijn Johannes A / Morreau Hans / Stokkel Marcel PM / Bonsing Bert A / van Bunderen Patrick A / de Miranda Noel F / Woortman Sanne A / Weiss Marjan M / Hes Frederik J / Vriends Annette HJT / Bayley Jean-Pierre L / Corssmit Eleonora PM

    BMC Medical Genetics, Vol 11, Iss 1, p

    2010  Volume 92

    Abstract: Abstract Background Germline mutations of the succinate dehydrogenase subunit B gene ( SDHB ) predispose carriers for paragangliomas, and current estimates of the chance of mutation carriers actually developing tumors (penetrance) are high. We evaluate ... ...

    Abstract Abstract Background Germline mutations of the succinate dehydrogenase subunit B gene ( SDHB ) predispose carriers for paragangliomas, and current estimates of the chance of mutation carriers actually developing tumors (penetrance) are high. We evaluate the phenotype and penetrance of a germline SDHB mutation in a large and clinically well-characterized paraganglioma family. Methods Following identification of the mutation in a 31 year old index-patient, extensive clinical screening was performed in mutation carriers to evaluate the presence of head and neck, thoracic and abdominal paragangliomas. Presymptomatic DNA testing was performed in 19 family members. Results DNA analysis detected 14 further SDHB mutation carriers. Three mutation carriers (median age 78 years) declined clinical surveillance, but had no clinical signs or symptoms associated with paragangliomas. The remaining 11 mutation carriers (mean age 53, range 37-76 years) consented to clinical screening. In only two, aged 43 and 48 years, were subclinical vagal paragangliomas identified. Conclusions Only three of the fifteen mutation carriers in this family have developed paraganglioma, which results in a calculated penetrance of 26% at 48 years of age. This figure is lower than current estimates, and we conclude that the co-operation of this family allowed an almost complete attainment of mutation carriers, and the extensive clinical evaluation carried out allowed us to identify all affected individuals.
    Keywords Internal medicine ; RC31-1245 ; Genetics ; QH426-470
    Subject code 616
    Language English
    Publishing date 2010-06-01T00:00:00Z
    Publisher BMC
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  3. Article ; Online: Low penetrance of a SDHB mutation in a large Dutch paraganglioma family.

    Hes, Frederik J / Weiss, Marjan M / Woortman, Sanne A / de Miranda, Noel F / van Bunderen, Patrick A / Bonsing, Bert A / Stokkel, Marcel P M / Morreau, Hans / Romijn, Johannes A / Jansen, Jeroen C / Vriends, Annette H J T / Bayley, Jean-Pierre L / Corssmit, Eleonora P M

    BMC medical genetics

    2010  Volume 11, Page(s) 92

    Abstract: Background: Germline mutations of the succinate dehydrogenase subunit B gene (SDHB) predispose carriers for paragangliomas, and current estimates of the chance of mutation carriers actually developing tumors (penetrance) are high. We evaluate the ... ...

    Abstract Background: Germline mutations of the succinate dehydrogenase subunit B gene (SDHB) predispose carriers for paragangliomas, and current estimates of the chance of mutation carriers actually developing tumors (penetrance) are high. We evaluate the phenotype and penetrance of a germline SDHB mutation in a large and clinically well-characterized paraganglioma family.
    Methods: Following identification of the mutation in a 31 year old index-patient, extensive clinical screening was performed in mutation carriers to evaluate the presence of head and neck, thoracic and abdominal paragangliomas. Presymptomatic DNA testing was performed in 19 family members.
    Results: DNA analysis detected 14 further SDHB mutation carriers. Three mutation carriers (median age 78 years) declined clinical surveillance, but had no clinical signs or symptoms associated with paragangliomas. The remaining 11 mutation carriers (mean age 53, range 37-76 years) consented to clinical screening. In only two, aged 43 and 48 years, were subclinical vagal paragangliomas identified.
    Conclusions: Only three of the fifteen mutation carriers in this family have developed paraganglioma, which results in a calculated penetrance of 26% at 48 years of age. This figure is lower than current estimates, and we conclude that the co-operation of this family allowed an almost complete attainment of mutation carriers, and the extensive clinical evaluation carried out allowed us to identify all affected individuals.
    MeSH term(s) Genes ; Germ-Line Mutation ; Humans ; Mutation ; Paraganglioma/epidemiology ; Paraganglioma/genetics ; Paraganglioma/pathology ; Paraganglioma, Extra-Adrenal/genetics ; Penetrance ; Phenotype ; Succinate Dehydrogenase/genetics
    Chemical Substances Succinate Dehydrogenase (EC 1.3.99.1)
    Language English
    Publishing date 2010-06-11
    Publishing country England
    Document type Journal Article
    ISSN 1471-2350
    ISSN (online) 1471-2350
    DOI 10.1186/1471-2350-11-92
    Database MEDical Literature Analysis and Retrieval System OnLINE

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