Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Anna Lena Burgemeister"'
Autor:
Anna Lena Burgemeister, Gabriele du Bois, Eva Daumiller, Birgit Köhler, Susanne Knecht, Birgit Zirn, Luitgard Graul-Neumann, Stefan Burgemeister, Martin H. Maurer, Sarah Gronwald
49,XXXXY syndrome is a rare sex chromosome aneuploidy syndrome. Cognitive impairment with expressive language deficits in combination with developmental and speech dyspraxia are cardinal symptoms. Testicular insufficiency becomes apparent during adol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e090f8fbbc80f1d12aa472626c8094e
Autor:
Clemens Freiberg, Christine Klett, Ilona Dietze-Armana, Izabela Centonze, Günther Rettenberger, Birgit Zirn, Michael Lingen, Karl Mehnert, Wiebke Stark, Eva Daumiller, Anna Lena Burgemeister
Publikováno v:
American journal of medical genetics. Part A. 173(3)
Constitutional ring chromosomes can be found for all human chromosomes and are very rare chromosomal abnormalities. A complete ring chromosome without loss of genetic material results from fusion of subtelomeric regions or telomere-telomere fusion. I
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c5e6da5908dc2b91457590e9e95d4f6
https://pubmed.ncbi.nlm.nih.gov/28127864
https://pubmed.ncbi.nlm.nih.gov/28127864
Autor:
Barbara Burwinkel, Sarah Schott, Anne Langheinz, Peter Bugert, Hans Junkermann, Teresa Drasseck, Andreas Schneeweiss, Farnoosh Fathali-Zadeh, Anna Lena Burgemeister, Anne Behnecke, Theda Voigtländer, Sandrine Tchatchou, Christina Evers, Jörg Heil, Claus R. Bartram, Christof Sohn, Michael Golatta, Christian Sutter, Michelle G. Rath
Publikováno v:
Breast Cancer Research and Treatment. 133:725-734
In this study, we analyzed a "variant of uncertain significance" (VUS) located in exon 23 of the BRCA2 gene exhibited by six members of five distinct families with hereditary breast cancer (BC). The variant was identified by DNA sequencing, and cDNA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d81e27f2892a7b242847e2bfc997ec60
https://doi.org/10.1007/s10549-011-1917-0
https://doi.org/10.1007/s10549-011-1917-0
Autor:
Hans-Martin Büttel, Eva Rossier, Frank Oeffner, Stephen G. Kaler, Birgit Zirn, Gunther Lemm, Anna Lena Burgemeister
Menkes disease (MD) is a rare X-linked recessive disorder caused by mutations in the ATP7A gene. This neurodegenerative disorder typically affects males and is characterized by impaired copper distribution and the malfunction of several copper-depend
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec79011439680d5441c96a8dbc338165
https://europepmc.org/articles/PMC6475897/
https://europepmc.org/articles/PMC6475897/
Autor:
Nicola Dikow, Anna Lena Burgemeister, Caroline Goehringer, Joerg Heil, Claus R. Bartram, Sarah Schott, Andreas Schneeweiss, Dieter Schaefer, Ruediger Klaes, Christian Sutter, Christof Sohn, Harald Surowy, Peter Bugert, Barbara Burwinkel, Christina Evers, Max Mittnacht, Michael Golatta
Publikováno v:
Breast cancer research and treatment. 145(2)
Variants of uncertain clinical significance (VUS) in the high-penetrance breast cancer susceptibility genes BRCA1 and BRCA2 represent a major obstacle in genetic counseling of high-risk breast cancer families. We analyzed a missense VUS located in BR
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a80427163407c606b26d9c2528b05aa8
https://pubmed.ncbi.nlm.nih.gov/24728577
https://pubmed.ncbi.nlm.nih.gov/24728577