المؤلفون: Katerina Slaba, Petra Pokorna, Robin Jugas, Hana Palova, Dagmar Prochazkova, Stefania Aulicka, Klara Spanelova, Pavlina Danhofer, Ondrej Horak, Jana Tuckova, Petra Kleiblova, Renata Gaillyova, Matej Hrunka, Martin Jouza, Blanka Pinkova, Jan Papez, Petra Konecna, Jana Zidkova, Petr Stourac, Jaroslav Sterba, Regina Demlova, Eva Demlova, Petr Jabandziev, Ondrej Slaby

المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-11 (2024)

مصطلحات موضوعية: Rare genetic diseases, Undiagnosed patients, Whole-exome sequencing, Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/5632c7178ab1493c9496854f9b2ecf9d

المؤلفون: Anna Novotna, Klara Horackova, Jana Soukupova, Petra Zemankova, Petr Nehasil, Pavel Just, Ludek Voska, Petra Kleiblova, Silvie Rajnochova Bloudickova

المصدر: PLoS ONE, Vol 20, Iss 1, p e0316192 (2025)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/864cfc2c32a0431da7d0e74a1ccb4415

المؤلفون: Klara Horackova, Petra Zemankova, Petr Nehasil, Michal Vocka, Milena Hovhannisyan, Katerina Matejkova, Marketa Janatova, Marta Cerna, Petra Kleiblova, Sandra Jelinkova, Barbora Stastna, Pavel Just, Tatana Dolezalova, Barbora Nemcova, Marketa Urbanova, Monika Koudova, Jana Hazova, Eva Machackova, Lenka Foretova, Viktor Stranecky, Michal Zikan, Zdenek Kleibl, Jana Soukupova

المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-12 (2024)

مصطلحات موضوعية: Ovarian cancer, Early-onset, Germline whole exome sequencing, Polygenic risk score, HLA, Mutation burden, Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/ad5550950aed42c6b56e4a609805f4e6

المؤلفون: Jana Soukupova, Barbora Stastna, Madiha Kanwal, Jan Hojny, Petra Zemankova, Marianna Borecka, Leona Cerna, Marta Cerna, Monika Cerna, Vaclava Curtisova, Tatana Dolezalova, Petra Duskova, Lenka Foretova, Ondrej Havranek, Klara Horackova, Milena Hovhannisyan, Lucie Hruskova, Stepan Chvojka, Marketa Janatova, Maria Janikova, Sandra Jelinkova, Pavel Just, Marta Kalousova, Petra Kleiblova, Marcela Kosarova, Monika Koudova, Jan Kral, Michaela Krausova, Vera Krutilkova, Eva Machackova, Katerina Matejkova, Renata Michalovska, Petr Nehasil, Barbora Nemcova, Jan Novotny, Matous Palek, Pavel Pesek, Marketa Safarikova, Ondrej Scheinost, Drahomira Springer, Lenka Stolarova, Viktor Stranecky, Ivan Subrt, Spiros Tavandzis, Eva Tureckova, Kamila Vesela, Zdenka Vlckova, Michal Vocka, Tomas Zima, Libor Macurek, Zdenek Kleibl, the CZECANCA consortium

المصدر: Cancer Medicine, Vol 13, Iss 16, Pp n/a-n/a (2024)

مصطلحات موضوعية: breast cancer, Fanconi anemia complementation group G, functional analysis, germline genetic testing, hereditary tumors, ovarian cancer, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-7634

URL الوصول: https://doaj.org/article/a729e3f3d4b64ad89ec8fbe20e608bd3

المؤلفون: Petra Zemankova, Marta Cerna, Klara Horackova, Corinna Ernst, Jana Soukupova, Marianna Borecka, Britta Blümcke, Leona Cerna, Monika Cerna, Vaclava Curtisova, Tatana Dolezalova, Petra Duskova, Lenka Dvorakova, Lenka Foretova, Ondrej Havranek, Jan Hauke, Eric Hahnen, Miloslava Hodulova, Milena Hovhannisyan, Lucie Hruskova, Marketa Janatova, Maria Janikova, Sandra Jelinkova, Pavel Just, Marcela Kosarova, Monika Koudova, Vera Krutilkova, Eva Machackova, Katerina Matejkova, Renata Michalovska, Adela Misove, Petr Nehasil, Barbora Nemcova, Jan Novotny, Ales Panczak, Pavel Pesek, Ondrej Scheinost, Drahomira Springer, Barbora Stastna, Viktor Stranecky, Ivan Subrt, Spiros Tavandzis, Eva Tureckova, Kamila Vesela, Zdenka Vlckova, Michal Vocka, Barbara Wappenschmidt, Tomas Zima, Zdenek Kleibl, Petra Kleiblova

المصدر: Breast, Vol 75, Iss , Pp 103721- (2024)

مصطلحات موضوعية: Deep intronic CHEK2 variant, Breast cancer, NGS, RNA analysis, Genetic testing, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0960977624000523; https://doaj.org/toc/1532-3080

URL الوصول: https://doaj.org/article/550a6d19812d49439f776d55972c1a43

المؤلفون: Jan Hojny, Romana Michalkova, Eva Krkavcova, Quang Hiep Bui, Michaela Bartu, Kristyna Nemejcova, Marta Kalousova, Petra Kleiblova, Pavel Dundr, Ivana Struzinska

المصدر: Scientific Reports, Vol 12, Iss 1, Pp 1-13 (2022)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/aec7ae3c623d4d48b67ca8c0a6068d56

المؤلفون: Katerina Slaba, Hana Noskova, Petra Vesela, Jana Tuckova, Hana Jicinska, Tomas Honzik, Hana Hansikova, Petra Kleiblova, Petr Stourac, Petr Jabandziev, Ondrej Slaby, Dagmar Prochazkova

المصدر: Frontiers in Genetics, Vol 11 (2020)

مصطلحات موضوعية: PMM2-CDG, pericardial effusion, whole exome sequencing, novel splicing variant, phosphomannomutase 2, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2020.561054/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/e236734a4c3247bca6095bdadb976b2f

المؤلفون: Logan C. Walker, Vanessa Lilian Lattimore, Anders Kvist, Petra Kleiblova, Petra Zemankova, Lucy de Jong, George A. R. Wiggins, Christopher Hakkaart, Simone L. Cree, Raquel Behar, Claude Houdayer, kConFab Investigators, Michael T. Parsons, Martin A. Kennedy, Amanda B. Spurdle, Miguel de la Hoya

المصدر: Frontiers in Genetics, Vol 10 (2019)

مصطلحات موضوعية: breast cancer, mRNA splicing, nanopore sequencing, RNAseq analysis, variant classification, ACMG, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2019.01139/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/aef730ca4a5841118efe4b737619769d

المؤلفون: Lenka Stolarova, Petra Kleiblova, Marketa Janatova, Jana Soukupova, Petra Zemankova, Libor Macurek, Zdenek Kleibl

المصدر: Cells, Vol 9, Iss 12, p 2675 (2020)

مصطلحات موضوعية: checkpoint kinase 2, CHK2, CHEK2, KAP1, WIP1, germline mutation, Cytology, QH573-671

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4409/9/12/2675; https://doaj.org/toc/2073-4409

URL الوصول: https://doaj.org/article/6289bd2d4c3c413a852ad3acbfb21112

المؤلفون: Lenka Stolarova, Sandra Jelinkova, Radka Storchova, Eva Machackova, Petra Zemankova, Michal Vocka, Ondrej Kodet, Jan Kral, Marta Cerna, Zuzana Volkova, Marketa Janatova, Jana Soukupova, Viktor Stranecky, Pavel Dundr, Lenka Foretova, Libor Macurek, Petra Kleiblova, Zdenek Kleibl

المصدر: Biomedicines, Vol 8, Iss 10, p 404 (2020)

مصطلحات موضوعية: melanoma, familial melanoma, hereditary cancer predisposition, germline mutations, panel sequencing, NGS, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2227-9059/8/10/404; https://doaj.org/toc/2227-9059

URL الوصول: https://doaj.org/article/2465a0fc97634ec4b67bb6e3d6c027fe

المؤلفون: Jana Soukupova, Petra Zemankova, Klara Lhotova, Marketa Janatova, Marianna Borecka, Lenka Stolarova, Filip Lhota, Lenka Foretova, Eva Machackova, Viktor Stranecky, Spiros Tavandzis, Petra Kleiblova, Michal Vocka, Hana Hartmannova, Katerina Hodanova, Stanislav Kmoch, Zdenek Kleibl

المصدر: PLoS ONE, Vol 13, Iss 4, p e0195761 (2018)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC5896995?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/a5679d53e0984ffc8bfbd8317bc2a066

المؤلفون: Ondrej Havranek, Petra Kleiblova, Jan Hojny, Filip Lhota, Pavel Soucek, Marek Trneny, Zdenek Kleibl

المصدر: PLoS ONE, Vol 10, Iss 10, p e0140819 (2015)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4624763?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/51e8a334ff934ae4a76af9bc1815baf7

المؤلفون: Marketa Janatova, Jana Soukupova, Jana Stribrna, Petra Kleiblova, Michal Vocka, Petra Boudova, Zdenek Kleibl, Petr Pohlreich

المصدر: PLoS ONE, Vol 10, Iss 6, p e0127711 (2015)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4461297?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/92f5a043208e4a8983200b682c0678d3

المؤلفون: Barbora Otahalova, Zuzana Volkova, Jana Soukupova, Petra Kleiblova, Marketa Janatova, Michal Vocka, Libor Macurek, Zdenek Kleibl

المصدر: International Journal of Molecular Sciences; Volume 24; Issue 6; Pages: 5612

مصطلحات موضوعية: NBN, MRE11, RAD50, NBS, ATLD, NBSLD, TP53, DNA repair, hereditary cancer syndromes, variant interpretation, NGS

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms24065612

الاتاحة: https://doi.org/10.3390/ijms24065612

المؤلفون: Klara Horackova, Marketa Janatova, Petra Kleiblova, Zdenek Kleibl, Jana Soukupova

المصدر: International Journal of Molecular Sciences, Vol 24, Iss 23, p 17020 (2023)

مصطلحات موضوعية: ovarian cancer, early-onset, genetic predisposition, germline pathogenic variant, Biology (General), QH301-705.5, Chemistry, QD1-999

Relation: https://www.mdpi.com/1422-0067/24/23/17020; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/d8333cbf6a8347218a8b8f220fa6385e

الاتاحة: https://doi.org/10.3390/ijms242317020
https://doaj.org/article/d8333cbf6a8347218a8b8f220fa6385e

المؤلفون: Klara Horackova, Sona Frankova, Petra Zemankova, Petr Nehasil, Marta Cerna, Magdalena Neroldova, Barbora Otahalova, Jan Kral, Milena Hovhannisyan, Viktor Stranecky, Tomas Zima, Marketa Safarikova, Marta Kalousova, CZECANCA Consortium, Jan Novotny, Jan Sperl, Marianna Borecka, Sandra Jelinkova, Michal Vocka, Marketa Janatova, Petra Kleiblova, Zdenek Kleibl, Milan Jirsa, Jana Soukupova

المصدر: Cancers, Vol 15, Iss 1, p 201 (2022)

مصطلحات موضوعية: hepatocellular carcinoma, liver cirrhosis, liver transplantation, genetic predisposition, panel sequencing, MRN complex, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

Relation: https://www.mdpi.com/2072-6694/15/1/201; https://doaj.org/toc/2072-6694; https://doaj.org/article/eff99fcdc2714e248af2543f3a58c41d

الاتاحة: https://doi.org/10.3390/cancers15010201
https://doaj.org/article/eff99fcdc2714e248af2543f3a58c41d

المؤلفون: Greet Wieme, Jan Kral, Toon Rosseel, Petra Zemankova, Bram Parton, Michal Vocka, Mattias Van Heetvelde, Petra Kleiblova, Bettina Blaumeiser, Jana Soukupova, Jenneke van den Ende, Petr Nehasil, Sabine Tejpar, Marianna Borecka, Encarna B. Gómez García, Marinus J. Blok, Marketa Safarikova, Marta Kalousova, Karen Geboes, Robin De Putter, Bruce Poppe, Kim De Leeneer, Zdenek Kleibl, Marketa Janatova, Kathleen B. M. Claes

المصدر: Cancers, Vol 13, Iss 4430, p 4430 (2021)

مصطلحات موضوعية: pancreatic ductal adenocarcinoma, overall survival, multigene panel testing, family history, germline, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

Relation: https://www.mdpi.com/2072-6694/13/17/4430; https://doaj.org/toc/2072-6694; https://doaj.org/article/408ae272d30c4c97b9fbf79a7b5905f8

الاتاحة: https://doi.org/10.3390/cancers13174430
https://doaj.org/article/408ae272d30c4c97b9fbf79a7b5905f8

المؤلفون: Klara Lhotova, Lenka Stolarova, Petra Zemankova, Michal Vocka, Marketa Janatova, Marianna Borecka, Marta Cerna, Sandra Jelinkova, Jan Kral, Zuzana Volkova, Marketa Urbanova, Petra Kleiblova, Eva Machackova, Lenka Foretova, Jana Hazova, Petra Vasickova, Filip Lhota, Monika Koudova, Leona Cerna, Spiros Tavandzis, Jana Indrakova, Lucie Hruskova, Marcela Kosarova, Radek Vrtel, Viktor Stranecky, Stanislav Kmoch, Michal Zikan, Libor Macurek, Zdenek Kleibl, Jana Soukupova

المصدر: Cancers; Volume 12; Issue 4; Pages: 956

مصطلحات موضوعية: ovarian cancer, next-generation sequencing, predisposition genes, cancer risk, mutation

وصف الملف: application/pdf

Relation: Molecular Cancer Biology; https://dx.doi.org/10.3390/cancers12040956

الاتاحة: https://doi.org/10.3390/cancers12040956

المؤلفون: Gisella Figlioli, Anders Kvist, Emma Tham, Jana Soukupova, Petra Kleiblova, Taru Muranen, Nadine Andrieu, Jacopo Azzollini, Judith Balmaña, Alicia Barroso, Javier Benítez, Birgitte Bertelsen, Ana Blanco, Bernardo Bonanni, Åke Borg, Joan Brunet, Daniele Calistri, Mariarosaria Calvello, Stepan Chvojka, Laura Cortesi, Esther Darder, Jesús Del Valle, Orland Diez, ENIGMA Consortium, Séverine Eon-Marchais, Florentia Fostira, GENESIS Study Collaborators, Francesca Gensini, Claude Houdayer, Marketa Janatova, Johanna Kiiski, Irene Konstantopoulou, Katerina Kubelka-Sabit, Conxi Lázaro, Fabienne Lesueur, Siranoush Manoukian, Ruta Marcinkute, Ugnius Mickys, Virginie Moncoutier, SWE-BRCA Group, Aleksander Myszka, Tu Nguyen-Dumont, Finn Nielsen, Rimvydas Norvilas, Edith Olah, Ana Osorio, Laura Papi, Bernard Peissel, Ana Peixoto, Dijana Plaseska-Karanfilska, Timea Pócza, Maria Rossing, Vilius Rudaitis, Marta Santamariña, Catarina Santos, Snezhana Smichkoska, Melissa Southey, Dominique Stoppa-Lyonnet, Manuel Teixeira, Therese Törngren, Angela Toss, Miguel Urioste, Ana Vega, Zdenka Vlckova, Drakoulis Yannoukakos, Valentina Zampiga, Zdenek Kleibl, Paolo Radice, Heli Nevanlinna, Hans Ehrencrona, Ramunas Janavicius, Paolo Peterlongo

المصدر: Cancers; Volume 12; Issue 2; Pages: 292

مصطلحات موضوعية: breast cancer predisposition, breast cancer risk factors, FANCM truncating variants, mutation spectrum, PTVs

وصف الملف: application/pdf

Relation: Molecular Cancer Biology; https://dx.doi.org/10.3390/cancers12020292

الاتاحة: https://doi.org/10.3390/cancers12020292

المؤلفون: 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

المصدر: Oncology Letters. 25

مصطلحات موضوعية: Cancer Research, Oncology

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