Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Daniela Endt"'
Publikováno v:
Cellular Oncology, Vol 30, Iss 5, Pp 461-462 (2008)
Externí odkaz:
https://doaj.org/article/6de91fd01b614672a799bcc562347f4a
Autor:
Heiner Schaal, David Grimwade, Franca Fraternali, Kornelia Neveling, Roland G. Roberts, Verena Erven, Beatrice Schuster, Christopher G. Mathew, Constanze Wiek, Flavia Autore, Helmut Hanenberg, Nazneen Rahman, Linda Hartmann, Daniela Endt, Shehla Mohammed, Marcel Freund, Detlev Schindler, Karen Barker, Ian Kesterton, Fiona Vaz
Publikováno v:
Nature Genetics. 42:406-409
Fanconi anemia (FA) is a rare chromosomal-instability disorder associated with a variety of developmental abnormalities, bone marrow failure and predisposition to leukemia and other cancers. We have identified a homozygous missense mutation in the RA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d333e9db2e5f1ed9f4878f9436acfbc
https://doi.org/10.1038/ng.570
https://doi.org/10.1038/ng.570
Publikováno v:
Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis. 668:73-91
Although still incomplete, we now have a remarkably detailed and nuanced picture of both phenotypic and genotypic components of the FA spectrum. Initially described as a combination of pancytopenia with a limited number of physical anomalies, it was
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2077b267fd57a98e95a725cba4379a07
https://doi.org/10.1016/j.mrfmmm.2009.05.006
https://doi.org/10.1016/j.mrfmmm.2009.05.006
Publikováno v:
Encyclopedia of Cancer ISBN: 9783642278419
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a066765c981cc1f95234388754604a5
https://doi.org/10.1007/978-3-662-46875-3_2116
https://doi.org/10.1007/978-3-662-46875-3_2116
Autor:
Thomas Haaf, Sabine Preisler-Adams, Monika Leubner, Galyna Pliushch, Andrea Gehrig, Patricia Kroll, Daniela Endt, Peter Wieacker, Tamara Hansmann
Publikováno v:
Human Molecular Genetics
Genetic defects in breast cancer (BC) susceptibility genes, most importantly BRCA1 and BRCA2, account for ∼40% of hereditary BC and ovarian cancer (OC). Little is known about the contribution of constitutive (soma-wide) epimutations to the remainin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f7c23b1af804d1c794895a39ce36e74
https://pubmed.ncbi.nlm.nih.gov/22843497
https://pubmed.ncbi.nlm.nih.gov/22843497
Autor:
Katharina Eirich, Daniela Endt, Rita K. Schmutzler, Stefanie Engert, Alexandra Becker, Detlev Schindler, Nina Ditsch, Alfons Meindl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::729811a219be4bc1dc4790cfc4d5162a
https://opus.bibliothek.uni-augsburg.de/opus4/frontdoor/index/index/docId/84400
https://opus.bibliothek.uni-augsburg.de/opus4/frontdoor/index/index/docId/84400