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Germline multigene panel testing of patients with endometrial cancer

Autor: Jan Kral, Sandra Jelinkova, Petra Zemankova, Michal Vocka, Marianna Borecka, Leona Cerna, Marta Cerna, Lukas Dostalek, Petra Duskova, Lenka Foretova, Ondrej Havranek, Klara Horackova, Milena Hovhannisyan, Stepan Chvojka, Marta Kalousova, Marcela Kosarova, Monika Koudova, Vera Krutilkova, Eva Machackova, Petr Nehasil, Jan Novotny, Barbora Otahalova, Alena Puchmajerova, Marketa Safarikova, Jiri Slama, Viktor Stranecky, Ivan Subrt, Spiros Tavandzis, Michal Zikan, Tomas Zima, Jana Soukupova, Petra Kleiblova, Zdenek Kleibl, Marketa Janatova

Publikováno v: Oncology Letters. 25

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b7abad075888d19ab669a136a697ec12
https://doi.org/10.3892/ol.2023.13802

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Renal development and cystic diseases

Autor: C. Cabrera-Lopez, E. Ars, T. Marti, P. C. Harris, R. Torra, C. Clerckx, T. Migeon, Z. Chen, P. Ronco, E. Plaisier, I. J. Lamers, J. Van Reeuwijk, M. Azam, K. Boldt, M. Maria, L. Koster-Kamphuis, R. Qamar, M. Ueffing, F. P. Cremers, R. Roepman, H. H. Arts, S. Papizh, V. Dlin, I. Leontieva, K. Tutelman, R. D. Perrone, K. T. Bae, A. B. Chapman, O. Devuyst, R. T. Gansevoort, J. J. Grantham, E. Higashihara, V. E. Torres, O. Sergeyeva, W. Zhou, J. D. Blais, F. S. Czerwiec, F. Liu, Y. Liao, P. Fu, N. Casteleijn, D. Zittema, S. Bakker, W. Boertien, C. Gaillard, E. Meijer, E. Spithoven, J. Struck, R. Gansevoort, P. Robinson, P. McEwan, H. Hadimeri, A. C. M. Ong, B. Orskov, R. Peces, R. Sandford, F. Scolari, G. Walz, C. Cooke, K. O'Reilly, M. Riwanto, S. Kapoor, D. Rodriguez, I. Edenhofer, S. Segerer, R. P. Wuthrich, S. De Rechter, J. Bacchetta, M. Van Dyck, P. Evenepoel, J. De Schepper, E. Levtchenko, D. Mekahli, A. Carr, A. Makin, A. Baker, L. Obeidova, J. Stekrova, T. Seeman, A. Puchmajerova, J. Reiterova, M. Kohoutova, V. Tesar, S. Treille, J.-M. Bailly, B. Guillaume, L. Tuta, A. Stanigut, F. Botea, H. A. Jo, H. C. Park, H. Kim, M. Han, H. Huh, J. C. Jeong, K.-H. Oh, J. Yang, T. Y. Koo, Y.-H. Hwang, C. Ahn, A. Pisani, G. Remuzzi, P. Ruggenenti, E. Riccio, B. Visciano, L. Spinelli, J. I. Kim, K. M. Park, F. X. Liu, P. Rutherford, K. Smoyer-Tomic, V. Martinez Jimenez, J. Comas, E. Arcos, J. M. Diaz, S. Muray, J. Cabezuelo, J. Ballarin, T. Miyaoka, S. Morimoto, H. Kataoka, T. Mochizuki, K. Tsuchiya, A. Ichihara, K. Nitta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99568170572446ca38502ff0bb707ce8
https://ora.ox.ac.uk/objects/uuid:ea376987-542f-48fd-a091-437b8ef9f7ff

Unique mutational profile associated with a loss of TDG expression in the rectal cancer of a patient with a constitutional PMS2 deficiency

Autor: Vasovcak, P, Krepelova, A, Menigatti, M, Puchmajerova, A, Skapa, P, Augustinakova, A, Amann, G, Wernstedt, A, Jiricny, J, Marra, Giancarlo, Wimmer, K

Publikováno v: DNA Repair, 11 (7)
DNA Repair
DNA repair

Highlights ► We characterized the mutator phenotype of a very early onset rectal cancer. ► High frequency of C:G>T:A or G:C>A:T transitions at methylated CpG sites was found. ► A somatic TDG mutation was found associated with TDG expression los

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::9e2abf90e10761147b58c3e652ee009e