Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Anna K, Sommer"'
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:
Yasmin Soares de Lima, Coral Arnau-Collell, Jenifer Muñoz, Cristina Herrera-Pariente, Leticia Moreira, Teresa Ocaña, Marcos Díaz-Gay, Sebastià Franch-Expósito, Miriam Cuatrecasas, Sabela Carballal, Anael Lopez-Novo, Lorena Moreno, Guerau Fernàndez, Aranzazu Díaz de Bustamante, Sophia Peters, Anna K Sommer, Isabel Spier, Iris B A W te Paske, Yasmijn J van Herwaarden, Antoni Castells, Luis Bujanda, Gabriel Capellà, Verena Steinke-Lange, Khalid Mahmood, JiHoon Eric Joo, Julie Arnold, Susan Parry, Finlay A Macrae, Ingrid M Winship, Christophe Rosty, Joaquin Cubiella, Daniel Rodríguez-Alcalde, Elke Holinski-Feder, Richarda de Voer, Daniel D Buchanan, Stefan Aretz, Clara Ruiz-Ponte, Laura Valle, Francesc Balaguer, Laia Bonjoch, Sergi Castellvi-Bel
Publikováno v:
Journal of Medical Genetics, 60, 557-567
Journal of Medical Genetics, 60, 6, pp. 557-567
Journal of Medical Genetics, 60, 6, pp. 557-567
BackgroundPatients with serrated polyposis syndrome (SPS) have multiple and/or large serrated colonic polyps and higher risk for colorectal cancer. SPS inherited genetic basis is mostly unknown. We aimed to identify new germline predisposition factor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5580c2f6bc5b5baae3c61e6fa2cd0069
https://doi.org/10.1136/jmg-2022-108684
https://doi.org/10.1136/jmg-2022-108684
Autor:
Yasmin, Soares de Lima, Coral, Arnau-Collell, Jenifer, Muñoz, Cristina, Herrera-Pariente, Leticia, Moreira, Teresa, Ocaña, Marcos, Díaz-Gay, Sebastià, Franch-Expósito, Miriam, Cuatrecasas, Sabela, Carballal, Anael, Lopez-Novo, Lorena, Moreno, Guerau, Fernàndez, Aranzazu, Díaz de Bustamante, Sophia, Peters, Anna K, Sommer, Isabel, Spier, Iris B A W, Te Paske, Yasmijn J, van Herwaarden, Antoni, Castells, Luis, Bujanda, Gabriel, Capellà, Verena, Steinke-Lange, Khalid, Mahmood, JiHoon Eric, Joo, Julie, Arnold, Susan, Parry, Finlay A, Macrae, Ingrid M, Winship, Christophe, Rosty, Joaquin, Cubiella, Daniel, Rodríguez-Alcalde, Elke, Holinski-Feder, Richarda, de Voer, Daniel D, Buchanan, Stefan, Aretz, Clara, Ruiz-Ponte, Laura, Valle, Francesc, Balaguer, Laia, Bonjoch, Sergi, Castellvi-Bel
Publikováno v:
Journal of medical genetics.
Patients with serrated polyposis syndrome (SPS) have multiple and/or large serrated colonic polyps and higher risk for colorectal cancer. SPS inherited genetic basis is mostly unknown. We aimed to identify new germline predisposition factors for SPS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b4ce0c5b4843d5dab87a475ba3530ae1
https://pubmed.ncbi.nlm.nih.gov/36270769
https://pubmed.ncbi.nlm.nih.gov/36270769
Autor:
Anna K. Sommer, Iris B.A.W. te Paske, José Garcia-Pelaez, Andreas Laner, Elke Holinski-Feder, Verena Steinke-Lange, Sophia Peters, Laura Valle, Isabel Spier, David Huntsman, Carla Oliveira, Richarda M. de Voer, Nicoline Hoogerbrugge, Stefan Aretz, Gabriel Capella, Gareth Evans, Andreas Rump, Evelin Schröck, Alexander Hoischen, Nicoline Geverink, Marc Tischkowitz, Leslie Matalonga, Steven Laurie, Christian Gilissen, Wouter Steyaert, German Demidov
Publikováno v:
European Journal of Medical Genetics, 65
European Journal of Medical Genetics, 65, 5
European Journal of Medical Genetics, 65, 5
Background: Patients and families with suspected, but genetically unexplained (unsolved) genetic tumour risk syndromes lack appropriate treatment and prevention, leading to preventable morbidity and mortality. To tackle this problem, patients from th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd81a62ab9d3b8928c73e1a1d1473b35
http://hdl.handle.net/10230/54621
http://hdl.handle.net/10230/54621
