Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Stander Jansen"'
Autor:
H Joenje, Stander Jansen, Rachel A. Gibson, Charmaine Havenga, Neil V. Morgan, Eliane Gluckman, Alex J. Tipping, Thomas Pearson, Christopher G. Mathew, L P Kuyt, T. De Ravel
Publikováno v:
Proceedings of the National Academy of Sciences. 98:5734-5739
Fanconi anemia (FA) is a rare, genetically heterogeneous autosomal recessive disorder associated with progressive aplastic anemia, congenital abnormalities, and cancer. FA has a very high incidence in the Afrikaner population of South Africa, possibl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc91f87f7602e427f46a8594ca5f4f37
https://doi.org/10.1073/pnas.091402398
https://doi.org/10.1073/pnas.091402398
Publikováno v:
Cancer Genetics and Cytogenetics. 126:52-55
Fanconi anemia (FA) is a rare autosomal recessive genetic disorder showing progressive bone marrow failure, and various phenotypic abnormalities. The lymphocytes show an increased sensitivity to the clastogenic agents diepoxybutane (DEB) or mytomycin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8cd052846df7993bd4dc1df4d7b4df17
https://doi.org/10.1016/s0165-4608(00)00388-5
https://doi.org/10.1016/s0165-4608(00)00388-5
Autor:
Stander Jansen, J. Nico P. de Villiers, Rochelle Thiart, Maritha J. Kotze, Magda Callis, Frederick J. Raal
Publikováno v:
Molecular and Cellular Probes. 12:149-152
Twelve familial hypercholesterolemia (FH) patients of different ancestries living in South Africa were subjected to mutation analysis of the low-density lipoprotein receptor (LDLR) gene. Nine different mutations were identified in 10 patients. Six of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff88b3739b6b3609a31548346e884ecf
https://doi.org/10.1006/mcpr.1998.0164
https://doi.org/10.1006/mcpr.1998.0164
Autor:
Amanda Krause, Thomy J. L. de Ravel, Neil V. Morgan, Christopher G. Mathew, Linda Wainwright, Hans Joenje, Stander Jansen, Martin Digweed, Marc Tischkowitz, Fahmida Essop, Janet Poole, Ilja Demuth, Cathryn M. Lewis
Publikováno v:
Blood. 105(9)
Fanconi anemia (FA) is a genetically heterogeneous chromosomal instability syndrome associated with multiple congenital abnormalities, aplastic anemia, and cancer. We report that a deletion mutation in the FANCG gene (c.637_643delTACCGCC) was present
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af423f0d97fc57017404c43153e67643
https://pubmed.ncbi.nlm.nih.gov/15657175
https://pubmed.ncbi.nlm.nih.gov/15657175
Autor:
Salvatore Melchionda, Fré Arwert, Samia A. Temtamy, Juan J. Ortega, Douglas F. Easton, Irene Roberts, Jan C. Pronk, Stander Jansen, Christopher G. Mathew, Thomy J. L. de Ravel, Neil V. Morgan, Mario Wijker, Rachel A. Gibson, Anna Savoia, Charmaine Havenga, Hans Joenje, Andries Westerveld, Richard J. Cohn, D Ford
Publikováno v:
Nature Genetics. 11:338-340
Fanconi anaemia (FA) is an autosomal recessive disorder associated with diverse developmental abnormalities, bone-marrow failure and predisposition to cancer. FA cells show increased chromosome breakage and hypersensitivity to DNA cross-linking agent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5358c1197f69b3fc82b28c0d324e1ff5
https://doi.org/10.1038/ng1195-338
https://doi.org/10.1038/ng1195-338
Autor:
Leopoldo Zelante, Sinoula Apostolou, Peter C. Verlander, Elna W. Moerland, Douglas F. Easton, Maria Savino, Alex J. Tipping, Gregory G. Lennon, Leonarda lanzano, Neil V. Morgan, Anne-Marie Cleton-Jansen, S.A. Whitmore, Larry L. Deaven, Tamar Erlich, David F. Callen, Sheila Hassock, Christopher G. Mathew, Arleen D. Auerbach, Orna Levran, Joanna Crawford, Anna Savoia, Norman A. Doggett, Maria D'Apolito, Robert K. Moyzis, Thomy J. L. de Ravel, Jan C. Pronk, Stander Jansen, Rachel A. Gibson, Sat Dev Batish, Carola Van Berkell, Elena Memeo, Grant R. Sutherland, Angelo Notarangeio, Maria Rosaria Piemontese, Cees J. Cornelisse
Publikováno v:
Nature genetics. 14(3)
The Fanconi anaemia/Breast cancer consortium* Fanconi anaemia (FA) is an autosomal recessive disorder associated with progressive bone-marrow failure, a variety of congenital abnormalities, and predisposition to acute myeloid leukaemia1. Cells from F
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34be34c3e987319dd16130ddd1e53194
https://pubmed.ncbi.nlm.nih.gov/8896564
https://pubmed.ncbi.nlm.nih.gov/8896564
Autor:
Charmaine Havenga, Neil V. Morgan, Ian C. Pearson, Atieh Hajianpour, Judith C. W. Marsh, Laura H. Goldstein, Christopher G. Mathew, M. Murer-Orlando, Nicola Foot, Farkondeh Birjandi, Sheila P. Mohan, Thomas Pearson, Elena Samochatova, Rachel A. Gibson, Irene Roberts, Inderjeet Dokal, Juan C. Llerena, Richard J. Cohn, R. David Milner, Thomy J. L. de Ravel, Sarah E. Ball, Stander Jansen, Isabel M. Marques, Pushpa Vasudevan, I Kesterton
Fanconi anemia (FA) is an autosomal recessive disorder associated with hypersensitivity to DNA cross-linking agents and bone marrow failure. At least four complementation groups have been defined, and the FA group C gene (FAC) has been cloned. We hav
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::601451df0deb90420c7ce36a9618b13d
https://doi.org/10.1002/(sici)1098-1004(1996)8:2<140::aid-humu6>3.0.co
https://doi.org/10.1002/(sici)1098-1004(1996)8:2<140::aid-humu6>3.0.co
Autor:
Stander Jansen, Richard J. Cohn, T. De Ravel, D Ford, Sarah E. Ball, Rachel A. Gibson, Anna Savoia, Charmaine Havenga, Irene Roberts, R. D. G. Milner
Fanconi anaemia is an autosomal recessive disorder associated with increased chromosome breakage and progressive bone marrow failure. The gene for complementation group C (FACC) has been cloned and mapped to chromosome 9q22.3, but neither its genetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8c3ddfb6bb9114cafdca75095afd1a6
https://hdl.handle.net/20.500.14017/ff04abbf-f8b9-4c5e-88e7-3fa531c240e2
https://hdl.handle.net/20.500.14017/ff04abbf-f8b9-4c5e-88e7-3fa531c240e2