檢索結果 - Markéta Janatová
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The <i>PALB2</i> Gene Is a Strong Candidate for Clinical Testing in <i>BRCA1</i>- and <i>BRCA2</i>-Negative Hereditary Breast Cancer 由 Markéta Janatová, Zdeněk Kleibl, J. Stříbrná, A Panczak, Kamila Veselá, Martina Zimovjanová, Petra Kleiblová, Pavel Dundr, Jana Soukupová, Petr Pohlreich
出版 2013Artigo -
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Identification of deleterious germline <i>CHEK2</i> mutations and their association with breast and ovarian cancer 由 Petra Kleiblová, Lenka Stolařová, Kateřina Křížová, Filip Lhota, J. Hojný, Petra Zemánková, Ondřej Havránek, Michal Vočka, Marta Černá, Klára Lhotová, Marianna Borecká, Markéta Janatová, Jana Soukupová, Jan Ševčı́k, Martina Zimovjanová, Jaroslav Kotlas, A Panczak, Kamila Veselá, Jana Červenková, Michaela Schneiderová, Monika Burócziová, Kamila Burdová, Viktor Stránecký, Lenka Foretová, Eva Macháčková, Spiros Tavandzis, Stanislav Kmoch, Libor Macůrek, Zdeněk Kleibl
出版 2019Artigo -
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Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer 由 Klára Lhotová, Lenka Stolařová, Petra Zemánková, Michal Vočka, Markéta Janatová, Marianna Borecká, Marta Černá, Sandra Jelínková, J Král, Z Volková, Markéta Urbanová, Petra Kleiblová, Eva Macháčková, Lenka Foretová, Jana Házová, Petra Vašíčková, Filip Lhota, Monika Koudová, Leona Cerna, Spiros Tavandzis, Jana Indrakova, Lucie Hrušková, Marcela Kosařová, Radek Vrtěl, Viktor Stránecký, Stanislav Kmoch, Michal Zikán, Libor Macůrek, Zdeněk Kleibl, Jana Soukupová
出版 2020Artigo -
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<i>BRCA1</i> and <i>BRCA2</i> 5′ noncoding region variants identified in breast cancer patients alter promoter activity and protein binding 由 Leslie Burke, Jan Ševčı́k, Gaetana Gambino, Emma Tudini, Eliseos J. Mucaki, Ben C. Shirley, Phillip J Whiley, Michael T. Parsons, Kim De Leeneer, Sara Gutiérrez‐Enríquez, Marta Santamariña, Sandrine M. Caputo, Elizabeth Santana Dos Santos, Jana Soukupová, Markéta Janatová, Petra Zemánková, Klára Lhotová, Lenka Stolařová, Marianna Borecká, Alejandro Moles‐Fernández, Siranoush Manoukian, Bernardo Bonanni, Stacey L. Edwards, Marinus J. Blok, Thomas van Overeem Hansen, Maria Rossing, Orland Dı́ez, Ana Vega, Kathleen Claes, David E. Goldgar, Étienne Rouleau, Paolo Radice, Paolo Peterlongo, Peter K. Rogan, Maria A. Caligo, Amanda B. Spurdle, Melissa A. Brown
出版 2018Artigo -
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ENIGMA<i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired<i>CHEK2</i>Germline Missense Variants Associated with Increased Breast Cancer Risk 由 Lenka Stolařová, Petra Kleiblová, Petra Zemánková, Barbora Šťastná, Markéta Janatová, Jana Soukupová, Maria Isabel Achatz, Christine B. Ambrosone, Paraskevi Apostolou, Banu K. Arun, Paul L. Auer, Mollie E. Barnard, Birgitte Bertelsen, Koichi Matsuda, Yoichiro Kamatani, Takayuki Morisaki, Akiko Nagai, Kaori Muto, Yoshinori Murakami, Yoichi Furukawa, Yuji Yamanashi, Yusuke Nakamura, Taisei Mushiroda, Yukihide Momozawa, Toshihiro Tanaka, Yozo Ohnishi, Michiaki Kubo, Shinichi Higashiue, Shuzo Kobayashi, Shiro Minami, Hiroki Yamaguhci, Hajime Arai, Ken Yamaji, Yasushi Okazaki, Satoshi Asai, Yasuo Takahashi, Tomoaki Fujioka, Wataru Obara, Seijiro Mori, Shigeo Murayama, Satoshi Nagayama, Yoshio Miki, Akihide Masumoto, Akira Yamada, Yasuko Nishizawa, Masahiko Higashiyama, Hiromu Kutsumi, Yukihiro Koretsune, Takashi Yoshiyama, Marinus J. Blok, Nicholas J. Boddicker, Joan Brunet, Elizabeth S. Burnside, Mariarosaria Calvello, Ian Campbell, Sock Hoai Chan, Fei Chen, Jianbang Chiang, Anna Coppa, Laura Cortesi, Ana Crujeiras-González, Marianna Borecká, Marta Černá, Milena Hovhannisyan, Sandra Jelínková, Petr Nehasil, Lenka Foretová, Eva Macháčková, Vera Krutilkova, Spiros Tavandzis, Leona Cerna, Štěpán Chvojka, Monika Koudová, Alena Puchmajerová, Ondřej Havránek, Jan Novotný, Kamila Veselá, Michal Vočka, Lucie Hrušková, Renata Michalovska, Denisa Schwetzova, Zdeňka Vlčková, Monika Černá, Markéta Hejnalová, Nikol Jedlickova, Ivan Šubrt, Tomas Zavoral, Marcela Kosařová, Gabriela Vacínová, Mária Janíková, Romana Kratochvílová, Václava Curtisová, Radek Vrtěl, Ondřej Scheinost, Petra Duskova, Viktor Stránecký, Kim De Leeneer, Robin De Putter, Allison DePersia, Lisa Devereux
出版 2023Revisão -
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Data from ENIGMA <i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with... 由 Lenka Stolařová, Petra Kleiblová, Petra Zemánková, Barbora Šťastná, Markéta Janatová, Jana Soukupová, Maria Isabel Achatz, Christine B. Ambrosone, Paraskevi Apostolou, Banu K. Arun, Paul L. Auer, Mollie E. Barnard, Birgitte Bertelsen, Koichi Matsuda, Yoichiro Kamatani, Takayuki Morisaki, Akiko Nagai, Kaori Muto, Yoshinori Murakami, Yoichi Furukawa, Yuji Yamanashi, Yusuke Nakamura, Taisei Mushiroda, Yukihide Momozawa, Toshihiro Tanaka, Yozo Ohnishi, Michiaki Kubo, Shinichi Higashiue, Shuzo Kobayashi, Shiro Minami, Hiroki Yamaguhci, Hajime Arai, Ken Yamaji, Yasushi Okazaki, Satoshi Asai, Yasuo Takahashi, Tomoaki Fujioka, Wataru Obara, Seijiro Mori, Shigeo Murayama, Satoshi Nagayama, Yoshio Miki, Akihide Masumoto, Akira Yamada, Yasuko Nishizawa, Masahiko Higashiyama, Hiromu Kutsumi, Yukihiro Koretsune, Takashi Yoshiyama, Marinus J. Blok, Nicholas J. Boddicker, Joan Brunet, Elizabeth S. Burnside, Mariarosaria Calvello, Ian Campbell, Sock Hoai Chan, Fei Chen, Jianbang Chiang, Anna Coppa, Laura Cortesi, Ana Crujeiras-González, Marianna Borecká, Marta Černá, Milena Hovhannisyan, Sandra Jelínková, Petr Nehasil, Lenka Foretová, Eva Macháčková, Vera Krutilkova, Spiros Tavandzis, Leona Cerna, Štěpán Chvojka, Monika Koudová, Alena Puchmajerová, Ondřej Havránek, Jan Novotný, Kamila Veselá, Michal Vočka, Lucie Hrušková, Renáta Michalovská, Denisa Schwetzova, Zdeňka Vlčková, Monika Černá, Markéta Hejnalová, Nikol Jedlickova, Ivan Šubrt, Tomas Zavoral, Marcela Kosařová, Gabriela Vacínová, Mária Janíková, Romana Kratochvílová, Václava Curtisová, Radek Vrtěl, Ondřej Scheinost, Petra Duskova, Viktor Stránecký, Kim De Leeneer, Robin De Putter, Allison DePersia, Lisa Devereux
出版 2023Pré-impressão -
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Homologous recombination DNA repair defects in PALB2-associated breast cancers 由 Anqi Li, Felipe C. Geyer, Pedro Blecua, Ju Youn Lee, Pier Selenica, David Brown, Fresia Pareja, Simon S. K. Lee, Rahul Kumar, Bárbara Rivera, Rui Bi, Salvatore Piscuoglio, Hannah Y. Wen, John R. Lozada, Rodrigo Gularte‐Mérida, Luca Cavallone, Zoulikha Rezoug, Tú Nguyen‐Dumont, Paolo Peterlongo, Carlo Tondini, Thorkild Terkelsen, Karina Rønlund, Susanne E. Boonen, Arto Mannerma, Robert Winqvist, Markéta Janatová, Pathmanathan Rajadurai, Bing Xia, Larry Norton, Mark E. Robson, Pei-Sze Ng, Lai‐Meng Looi, Melissa C. Southey, Britta Weigelt, Teo Soo-Hwang, Marc Tischkowitz, William D. Foulkes, Jorge S. Reis‐Filho, Morteza Aghmesheh, David J. Amor, Leslie Andrews, Yoland Antill, Rosemary L. Balleine, Jonathan Beesley, Anneke C. Blackburn, Michael Bogwitz, Matthew A. Brown, Matthew Burgess, Jo Burke, Phyllis Butow, Liz Caldon, Ian Campbell, Alice Christian, Christine L. Clarke, Paul A. Cohen, Ashley Crook, James Cui, Margaret C. Cummings, Sarah‐Jane Dawson, Anna de Fazio, Martin B. Delatycki, Alexander Dobrovic, Tracy Dudding, Pascal H. G. Duijf, Edward Edkins, Stacey L. Edwards, Gelareh Farshid, Andrew Fellows, Michael Field, James M. Flanagan, Peter C.C. Fong, John Forbes, Laura Forrest, Stephen B. Fox, Juliet D. French, Michael Friedlander, David Gallego‐Ortega, Michael Gattas, Graham G. Giles, Grantley Gill, Margaret Gleeson, Sian Greening, Eric Haan, Marion Harris, Nicholas K. Hayward, Ian B. Hickie, John L. Hopper, Clare Hunt, Paul A. James, Mark A. Jenkins, Richard Kefford, Maira Kentwell, Judy Kirk, James Kollias, Sunil R. Lakhani, Geoffrey J. Lindeman, Lara Lipton, Lizz Lobb, Sheau Wen Lok, Finlay Macrea
出版 2019Artigo
相關主題
Biology
Gene
Genetics
Cancer
Cancer research
Germline
Germline mutation
Mutation
Breast cancer
Medicine
CHEK2
Internal medicine
Missense mutation
Ovarian cancer
Allele
DNA
DNA damage
DNA repair
Oncology
PALB2
BRCA2 Protein
Cell cycle
Cell cycle checkpoint
Checkpoint Kinase 2
Computational biology
Czech
DNA-binding protein
Environmental health
Exon
Frameshift mutation