Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Katrin, Kayser"'
Autor:
Jonas Henn, Isabel Spier, Ronja S. Adam, Stefanie Holzapfel, Siegfried Uhlhaas, Katrin Kayser, Guido Plotz, Sophia Peters, Stefan Aretz
Publikováno v:
Hereditary Cancer in Clinical Practice, Vol 17, Iss 1, Pp 1-13 (2019)
Abstract Background In a considerable number of patients with a suspected hereditary tumor syndrome (HTS), no underlying germline mutation is detected in the most likely affected genes. The present study aimed to establish and validate a large gene p
Externí odkaz:
https://doaj.org/article/229e0a17263a4a7b978d147fce9347e2
Autor:
Stefan Aretz, Andreas Laner, Verena Steinke-Lange, Melanie Locher, Katrin Kayser, Monika Morak, Anna Benet-Pages, Elke Holinski-Feder, Trisari Massdorf
Publikováno v:
Familial Cancer. 19:161-167
Routine diagnostics for colorectal cancer patients suspected of having Lynch-Syndrome (LS) currently uses Next-Generation-Sequencing (NGS) of targeted regions within the DNA mismatch repair (MMR) genes. This analysis can reliably detect nucleotide al
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d913ea5a66063623f066d575db2c5878
https://doi.org/10.1007/s10689-020-00159-4
https://doi.org/10.1007/s10689-020-00159-4
Autor:
Szilvia Joó, Tünde Kuti, Csaba Baár, Andras Sebők, Florian Paillet, Eric Trably, Mechthild Donner, Hugo De Vries, Nathalie Georgette Jeanne GONTARD, Anne Verniquet, Annamaria Celli, Katrin Kayser, Burkhard Schaer, Denise Gider, Mauro Majone, Marianna Villano
Publikováno v:
[Research Report] Campden BRI Magyarország Nonprofit Kft (CBHU). 2020, 89 p
HAL
HAL
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::11bc22b110b7df7c730bea9b3c4cb270
https://hal.inrae.fr/hal-03346874
https://hal.inrae.fr/hal-03346874
Autor:
Reinhard Büttner, Tobias Doerks, Nils Rahner, Magnus von Knebel-Doeberitz, Stefan Herms, Christoph Engel, Verena Steinke-Lange, Sukanya Horpaopan, Stefanie Holzapfel, Deepak Vangala, Juul T. Wijnen, Hans K. Schackert, Sascha B. Fischer, Monika Morak, Susanne Moebus, Stefan Aretz, Sophia Peters, Katrin Kayser, Isabel Spier, Peer Bork, Franziska Degenhardt, Per Hoffmann
Publikováno v:
International Journal of Cancer. 143:2800-2813
In many families with suspected Lynch syndrome (LS), no germline mutation in the causative mismatch repair (MMR) genes is detected during routine diagnostics. To identify novel causative genes for LS, the present study investigated 77 unrelated, muta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6ec338770ac0ae5c1cd02cb89dc9902d
https://doi.org/10.1002/ijc.31725
https://doi.org/10.1002/ijc.31725
Autor:
Guido Plotz, Ronja S. Adam, Katrin Kayser, Stefan Aretz, Stefanie Holzapfel, Siegfried Uhlhaas, Sophia Peters, Isabel Spier, Jonas Henn
Publikováno v:
Hereditary Cancer in Clinical Practice, Vol 17, Iss 1, Pp 1-13 (2019)
Hereditary cancer in clinical practice, 17(1):5. BioMed Central
Hereditary Cancer in Clinical Practice
Hereditary cancer in clinical practice, 17(1):5. BioMed Central
Hereditary Cancer in Clinical Practice
Background In a considerable number of patients with a suspected hereditary tumor syndrome (HTS), no underlying germline mutation is detected in the most likely affected genes. The present study aimed to establish and validate a large gene panel for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3aebda1b1e01c80673a1de6571f2c7ba
https://doi.org/10.1186/s13053-018-0102-4
https://doi.org/10.1186/s13053-018-0102-4
Autor:
Holger Thiele, Elke Holinski-Feder, Michael Kloth, Markus M. Nöthen, Gabriela Möslein, Richard P. Lifton, Reinhard Büttner, Glen Kristiansen, Bixiao Zhao, Jonathan Marquez, Inga Hinrichsen, Janine Altmüller, Andreas Laner, Sukanya Horpaopan, Jutta Kirfel, Angela Brieger, Aylar Tafazzoli, Stefanie Holzapfel, Regina C. Betz, Nicolaus Friedrichs, Ronja Adam, Siegfried Uhlhaas, Sophia Peters, Isabel Spier, Giancarlo Marra, Dietlinde Stienen, Katrin Kayser, Stefan Aretz
Publikováno v:
The American Journal of Human Genetics. 99(2):337-351
In ∼30% of families affected by colorectal adenomatous polyposis, no germline mutations have been identified in the previously implicated genes APC, MUTYH, POLE, POLD1, and NTHL1, although a hereditary etiology is likely. To uncover further genes w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41921d5917d6a1c2d7d2e3842f11d595
Autor:
Anne Verniquet, Agnès de Souza, Jan Broeze, Jim Groot, Hugo de Vries, Mechthild Donner, Katrin Kayser
Publikováno v:
[Research Report] EU H2020. 2018
EU H2020. 2018
HAL
EU H2020. 2018
HAL
The objective of this deliverable is to describe existing business models designed for cross-sectorial valorisation of by-products, and to highlight their respective key success and risk factors.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::473be3fdeead765e06360447c68df3c4
https://hal.inrae.fr/hal-02935853
https://hal.inrae.fr/hal-02935853
Autor:
Holger Thiele, Guido Plotz, Susanne Raeder, Isabel Spier, Verena Steinke, Richard P. Lifton, Sukanya Horpaopan, Monika Morak, Peter Nürnberg, Dietlinde Stienen, Stefanie Vogt, Elke Holinski-Feder, Janine Altmüller, Sophia Y. Chen, Stefan Aretz, Stefanie Holzapfel, Bixiao Zhao, Per Hoffmann, Katrin Kayser, Ronja Adam
Publikováno v:
International Journal of Cancer. 137:320-331
In a number of families with colorectal adenomatous polyposis or suspected Lynch syndrome/HNPCC, no germline alteration in the APC, MUTYH, or mismatch repair (MMR) genes are found. Missense mutations in the polymerase genes POLE and POLD1 have recent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::26d934186d5dea4cd9cfdf36de3113d9
https://doi.org/10.1002/ijc.29396
https://doi.org/10.1002/ijc.29396
Autor:
Isabel Spier, Verena Steinke, Sandra M. Pasternack, Stefan Aretz, Elke Holinski-Feder, Per Hoffmann, Holger Fröhlich, Janine Altmüller, Stefan Herms, Stefanie Heilmann, Andrea Hofmann, Alberto Perez-Bouza, Stefanie Vogt, Markus M. Nöthen, Dietlinde Stienen, Hartmut Engels, Stefanie Holzapfel, Holger Thiele, Franziska Degenhardt, Andreas Laner, Kathleen Keppler, Sukanya Horpaopan, Ronja Adam, Susanne Moebus, Markus Draaken, Siegfried Uhlhaas, Katrin Kayser, Alexander M. Zink
Publikováno v:
International Journal of Cancer. 136:E578-E589
To uncover novel causative genes in patients with unexplained adenomatous polyposis, a model disease for colorectal cancer, we performed a genome-wide analysis of germline copy number variants (CNV) in a large, well characterized APC and MUTYH mutati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::49bf8e4b22e83e5de05d2fc983062434
https://doi.org/10.1002/ijc.29215
https://doi.org/10.1002/ijc.29215
Autor:
Sukanya, Horpaopan, Isabel, Spier, Alexander M, Zink, Janine, Altmüller, Stefanie, Holzapfel, Andreas, Laner, Stefanie, Vogt, Siegfried, Uhlhaas, Stefanie, Heilmann, Dietlinde, Stienen, Sandra M, Pasternack, Kathleen, Keppler, Ronja, Adam, Katrin, Kayser, Susanne, Moebus, Markus, Draaken, Franziska, Degenhardt, Hartmut, Engels, Andrea, Hofmann, Markus M, Nöthen, Verena, Steinke, Alberto, Perez-Bouza, Stefan, Herms, Elke, Holinski-Feder, Holger, Fröhlich, Holger, Thiele, Per, Hoffmann, Stefan, Aretz
To uncover novel causative genes in patients with unexplained adenomatous polyposis, a model disease for colorectal cancer, we performed a genome-wide analysis of germline copy number variants (CNV) in a large, well characterized APC and MUTYH mutati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::201995a9b655046ef7c11291a2fcb390