Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Monika Maringa"'
Autor:
Anja Tüchler, Antoine De Pauw, Corinna Ernst, Amélie Anota, Inge M.M. Lakeman, Julia Dick, Nienke van der Stoep, Christi J. van Asperen, Monika Maringa, Natalie Herold, Britta Blümcke, Robert Remy, Anke Westerhoff, Denise J. Stommel-Jenner, Eléonore Frouin, Lisa Richters, Lisa Golmard, Nadine Kütting, Chrystelle Colas, Barbara Wappenschmidt, Kerstin Rhiem, Peter Devilee, Dominique Stoppa-Lyonnet, Rita K. Schmutzler, Eric Hahnen
Publikováno v:
Breast, Vol 73, Iss , Pp 103615- (2024)
Background: Breast cancer (BC) risk prediction models consider cancer family history (FH) and germline pathogenic variants (PVs) in risk genes. It remains elusive to what extent complementation with polygenic risk score (PRS) and non-genetic risk fac
Externí odkaz:
https://doaj.org/article/f91dd96772b24b38a3d25235b52f3750
Autor:
Katharina Keupp, Stephanie Hampp, Annette Hübbel, Monika Maringa, Sarah Kostezka, Kerstin Rhiem, Anke Waha, Barbara Wappenschmidt, Roser Pujol, Jordi Surrallés, Rita K. Schmutzler, Lisa Wiesmüller, Eric Hahnen
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 9, Pp n/a-n/a (2019)
Abstract Background Biallelic BRCA1 mutations are regarded either embryonically lethal or to cause Fanconi anemia (FA), a genomic instability syndrome characterized by bone marrow failure, developmental abnormalities, and cancer predisposition. We re
Externí odkaz:
https://doaj.org/article/6072626b1bad465e92c630f0e2e02109
Autor:
Theda Wessel, Eva Klopocki, Klemens Raile, Monika Maringa, Jürgen Weber, Dorothee Deiss, Thomas Riebel, Annette Grüters, Denise Horn, Dominik N. Müller, Martin Holder, A. Galler, Reinhard Ullmann
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 94:2658-2664
HNF1B-maturity-onset diabetes of the young is caused by abnormalities in the HNF1B gene encoding the transcription factor HNF-1beta. We aimed to investigate detailed clinical features and the type of HNF1B gene anomaly in five pediatric cases with HN
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a923df7e45789b30995670755b59cc6
https://doi.org/10.1210/jc.2008-2189
https://doi.org/10.1210/jc.2008-2189
Autor:
Christine Pollitt, George D. Yancopoulos, Thomas M. DeChiara, Robert B. Kimble, Andrew O.M. Wilkie, Ana M Fortuna, Monika Maringa, David M. Valenzuela, Michael Oldridge, Sahar Mansour, Peter Propping
Publikováno v:
Nature Genetics. 24:275-278
Inherited limb malformations provide a valuable resource for the identification of genes involved in limb development1,2. Brachydactyly type B (BDB), an autosomal dominant disorder, is the most severe of the brachydactylies3 and characterized by term
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b1b7c26a7e19c536e6d34b4602761ac
https://doi.org/10.1038/73495
https://doi.org/10.1038/73495
Publikováno v:
Diabetes Research and Clinical Practice. 81:e1-e3
We describe a girl aged 10.5 years with hyperglycemia, whose mother and maternal father had insulin treated diabetes since adolescence. Using genetic analysis in mother and child, we identified identical new mutation of the HNF-1α sequence. Treatmen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77630c818011843e29c7a0a2a98f0402
https://doi.org/10.1016/j.diabres.2008.03.005
https://doi.org/10.1016/j.diabres.2008.03.005