Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Ronja Adam"'
Autor:
Claudia Perne, Sophia Peters, Maria Cartolano, Sukanya Horpaopan, Christina Grimm, Janine Altmüller, Anna K Sommer, Axel M Hillmer, Holger Thiele, Margarete Odenthal, Gabriela Möslein, Ronja Adam, Sugirthan Sivalingam, Jutta Kirfel, Michal R Schweiger, Martin Peifer, Isabel Spier, Stefan Aretz
Publikováno v:
PLoS ONE, Vol 16, Iss 11, p e0259185 (2021)
The spectrum of somatic genetic variation in colorectal adenomas caused by biallelic pathogenic germline variants in the MSH3 gene, was comprehensively analysed to characterise mutational signatures and identify potential driver genes and pathways of
Externí odkaz:
https://doaj.org/article/6bc898b6a61f4b74a29ec7af0aec5145
Autor:
Robert Hüneburg, Tim Marwitz, Peer van Heteren, Tobias J. Weismüller, Jonel Trebicka, Ronja Adam, Stefan Aretz, Alberto Perez Bouza, Dimitrios Pantelis, Jörg C. Kalff, Jacob Nattermann, Cristian P. Strassburg
Publikováno v:
Endoscopy International Open, Vol 04, Iss 12, Pp E1305-E1310 (2016)
Background and study aims: Hereditary diffuse gastric cancer (HGGC), an autosomal dominant tumor-syndrome, accounts for 1 % to 3 % of gastric cancers worldwide. Presumably 30 % to 40 % of all patients fulfilling the clinical guidelines for HDGC ar
Externí odkaz:
https://doaj.org/article/6b5bd347747740c18a5546e2d6235339
Publikováno v:
PLoS ONE, Vol 7, Iss 2, p e31863 (2012)
The human DNA mismatch repair (MMR) process is crucial to maintain the integrity of the genome and requires many different proteins which interact perfectly and coordinated. Germline mutations in MMR genes are responsible for the development of the h
Externí odkaz:
https://doaj.org/article/0a50d9902ed44f30b106ac0620341b82
Autor:
Jonel Trebicka, Jacob Nattermann, Stefan Aretz, Robert Hüneburg, Dimitrios Pantelis, Tobias J. Weismüller, Alberto Perez Bouza, T Marwitz, Ronja Adam, Peer van Heteren, Cristian P. Strassburg, Jörg C. Kalff
Publikováno v:
Endoscopy International Open
Endoscopy International Open, Vol 04, Iss 12, Pp E1305-E1310 (2016)
Endoscopy International Open, Vol 04, Iss 12, Pp E1305-E1310 (2016)
Background and study aims: Hereditary diffuse gastric cancer (HGGC), an autosomal dominant tumor-syndrome, accounts for 1 % to 3 % of gastric cancers worldwide. Presumably 30 % to 40 % of all patients fulfilling the clinical guidelines for HDGC are c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb92e0753444c59bf6ead5ec7793e8e8
https://doi.org/10.1055/s-0042-112582
https://doi.org/10.1055/s-0042-112582
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:
Markus M. Nöthen, Ronja Adam, Per Hoffmann, Sven Perner, Michal R. Schweiger, Richard P. Lifton, Andreas Laner, Sukanya Horpaopan, Tim Becker, Bixiao Zhao, Jutta Kirfel, Bernd Timmermann, Sophia Peters, Isabel Spier, Stefanie Holzapfel, Stefan Aretz, Martin Kerick, Dmitriy Drichel, Elke Holinski-Feder, Glen Kristiansen
Publikováno v:
Journal of Medical Genetics
Journal of medical genetics 53(3), 172-179 (2015). doi:10.1136/jmedgenet-2015-103468
Journal of medical genetics 53(3), 172-179 (2015). doi:10.1136/jmedgenet-2015-103468
Background In 30–50% of patients with colorectal adenomatous polyposis, no germline mutation in the known genes APC, causing familial adenomatous polyposis, MUTYH, causing MUTYH -associated polyposis, or POLE or POLD1 , causing polymerase-proofread
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::689a1ca3fae03ebd70e3e45bd747e0ab
https://doi.org/10.1136/jmedgenet-2015-103468
https://doi.org/10.1136/jmedgenet-2015-103468
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:
Michal R. Schweiger, Stefan Aretz, Ronja Adam, Bernd Timmermann, Sven Perner, Sukanya Horpaopan, Dmitriy Drichel, Richard P. Lifton, Markus M. Nöthen, Tim Becker, Andreas Laner, Per Hoffmann, Bixiao Zhao, Sophia Peters, Isabel Spier, Holger Thiele, Martin Kerick, Janine Altmüller, Stefanie Holzapfel, Elke Holinski-Feder
Publikováno v:
Famillial Cancer
Familial cancer 15(2), 281-288 (2016). doi:10.1007/s10689-016-9870-z
Familial cancer 15(2), 281-288 (2016). doi:10.1007/s10689-016-9870-z
In up to 30 % of patients with colorectal adenomatous polyposis, no germline mutation in the known genes APC, causing familial adenomatous polyposis, MUTYH, causing MUTYH-associated polyposis, and POLE or POLD1, causing Polymerase-Proofreading-associ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35ac9aa6b6b9e1709fe1ae1610f8e08c
https://hdl.handle.net/11858/00-001M-0000-0029-6B80-711858/00-001M-0000-0029-6B82-3
https://hdl.handle.net/11858/00-001M-0000-0029-6B80-711858/00-001M-0000-0029-6B82-3
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