Zobrazeno 1 - 5
of 5
pro vyhledávání: '"E. A. Helmbold"'
Autor:
E. A. Helmbold, J. P. Warner, D. S. Markel, Darren W. Johnson, Kimberly A. McAllister, M. E.M. Porteous, Carol J. Gallione, Jonathan Berg, C. E. Jackson, Douglas A. Marchuk
Publikováno v:
Genome Research. 5:21-28
Hereditary hemorrhagic telangiectasia (HHT) or Osler-Rendu-Weber (ORW) disease is an autosomal dominant vascular dysplasia. Initial linkage studies identified an ORW gene localized to 9q33-q34 but with some families clearly excluding this region. A p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb415ac9954e41cf187e160cbcbf0e7f
https://doi.org/10.1101/gr.5.1.21
https://doi.org/10.1101/gr.5.1.21
Autor:
E A Helmbold, Barbara Bowles-Biesecker, Felicia Lennon, Wendy McKinnon, Charles E. Jackson, Alan E. Guttmacher, Douglas A. Marchuk, Margaret A. Pericak-Vance, Kimberly A. McAllister, Dorene S. Markel
Publikováno v:
Journal of Medical Genetics. 31:927-932
Hereditary haemorrhagic telangiectasia (HHT) or Osler-Weber-Rendu syndrome is an autosomal dominant vascular dysplasia characterised by recurrent haemorrhage. Our initial linkage studies found an HHT gene to be localised to 9q3 in two large kindreds.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::daafd15b9d8ea14b5a7b7fe9455ee0ed
https://doi.org/10.1136/jmg.31.12.927
https://doi.org/10.1136/jmg.31.12.927
Publikováno v:
Cancer nursing. 20(2)
The information gained from the Human Genome Project and related genetic research will undoubtedly create significant changes in health care practice. It is becoming increasing clear that nurses in all areas of clinical practice will require a fundam
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::be8c53dd05b2893861f6c384968fa481
https://pubmed.ncbi.nlm.nih.gov/9145562
https://pubmed.ncbi.nlm.nih.gov/9145562
Autor:
Laurence M. Boon, E A Helmbold, John B. Mulliken, Krystyna A. Pasyk, Felicia Lennon, Carol J. Gallione, Matthew L. Warman, Dorene S. Markel, Miikka Vikkula, D W Johnson
Publikováno v:
Journal of medical genetics. 32(3)
Venous malformations are a common form of vascular anomaly that cause pain and disfigurement and can be life threatening if they involve critical organs. They occur sporadically or in a familial form, where multiple lesions are usually present. We ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8819266e8e4a5d438afe335bdc5d648d
https://pubmed.ncbi.nlm.nih.gov/7783168
https://pubmed.ncbi.nlm.nih.gov/7783168
Autor:
J S, Chamberlain, M, Boehnke, T S, Frank, S, Kiousis, J, Xu, S W, Guo, E R, Hauser, R A, Norum, E A, Helmbold, D S, Markel
Publikováno v:
American journal of human genetics. 52(4)
Previous studies have demonstrated linkage between early-onset breast cancer and ovarian cancer and genetic markers on chromosome 17q21. These markers define the location of a gene (BRCA1) which appears to be inherited as an autosomal dominant suscep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c8e04b29e1ce28028098852797b27672
https://pubmed.ncbi.nlm.nih.gov/8460646
https://pubmed.ncbi.nlm.nih.gov/8460646