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1
المؤلفون: Jana Soukupova, Petra Zemankova, Petr Nehasil, Zdenek Kleibl, Zdeněk Kleibl, Jana Soukupová, Markéta Janatová, Petra Zemánková, Marta Černá, Sandra Jelínková, Jan Král, Eva MacháČková, Lenka Foretová, Dita anousková, Spiros Tavandzis, Věra Krutílková, Barbora Roszková, Monika Koudová, Filip Lhota, Leona Černá, Jana Vávrová, Petra Kleiblová, Markéta Urbanová, Michal VoČka, Jan Novotný, Ondřej Havránek, Lucie Hrušková, Renáta Michalovská, Zdeňka VlČková, Denisa Schwetzová, Monika Černá, Markéta Hejnalová, Nikol JedliČková, Ivan šubrt, Tomáš Zavoral, Marcela Kosařová, Gabriela Vacínová, Mária Janíková, Romana Kratochvílová, Václava Curtisová, Ondřej Scheinost, Petra Dušková, Viktor Stránecký, Libor Macůrek
المصدر: European journal of cancer (Oxford, England : 1990). 150
مصطلحات موضوعية: Ovarian Neoplasms, Cancer Research, Oncology, business.industry, medicine, MEDLINE, Cancer research, Humans, Susceptibility gene, Female, Ovarian cancer, medicine.disease, business
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المؤلفون: Xin, Yang, Goska, Leslie, Alicja, Doroszuk, Sandra, Schneider, Jamie, Allen, Brennan, Decker, Alison M, Dunning, James, Redman, James, Scarth, Inga, Plaskocinska, Craig, Luccarini, Mitul, Shah, Karen, Pooley, Leila, Dorling, Andrew, Lee, Muriel A, Adank, Julian, Adlard, Kristiina, Aittomäki, Irene L, Andrulis, Peter, Ang, Julian, Barwell, Jonine L, Bernstein, Kristie, Bobolis, Åke, Borg, Carl, Blomqvist, Kathleen B M, Claes, Patrick, Concannon, Adeline, Cuggia, Julie O, Culver, Francesca, Damiola, Antoine, de Pauw, Orland, Diez, Jill S, Dolinsky, Susan M, Domchek, Christoph, Engel, D Gareth, Evans, Florentia, Fostira, Judy, Garber, Lisa, Golmard, Ellen L, Goode, Stephen B, Gruber, Eric, Hahnen, Christopher, Hake, Tuomas, Heikkinen, Judith E, Hurley, Ramunas, Janavicius, Zdenek, Kleibl, Petra, Kleiblova, Irene, Konstantopoulou, Anders, Kvist, Holly, Laduca, Ann S G, Lee, Fabienne, Lesueur, Eamonn R, Maher, Arto, Mannermaa, Siranoush, Manoukian, Rachel, McFarland, Wendy, McKinnon, Alfons, Meindl, Kelly, Metcalfe, Nur Aishah, Mohd Taib, Jukka, Moilanen, Katherine L, Nathanson, Susan, Neuhausen, Pei Sze, Ng, Tu, Nguyen-Dumont, Sarah M, Nielsen, Florian, Obermair, Kenneth, Offit, Olufunmilayo I, Olopade, Laura, Ottini, Judith, Penkert, Katri, Pylkäs, Paolo, Radice, Susan J, Ramus, Vilius, Rudaitis, Lucy, Side, Rachel, Silva-Smith, Valentina, Silvestri, Anne-Bine, Skytte, Thomas, Slavin, Jana, Soukupova, Carlo, Tondini, Alison H, Trainer, Gary, Unzeitig, Lydia, Usha, Thomas, van Overeem Hansen, James, Whitworth, Marie, Wood, Cheng Har, Yip, Sook-Yee, Yoon, Amal, Yussuf, George, Zogopoulos, David, Goldgar, John L, Hopper, Georgia, Chenevix-Trench, Paul, Pharoah, Sophia H L, George, Judith, Balmaña, Claude, Houdayer, Paul, James, Zaki, El-Haffaf, Hans, Ehrencrona, Marketa, Janatova, Paolo, Peterlongo, Heli, Nevanlinna, Rita, Schmutzler, Soo-Hwang, Teo, Mark, Robson, Tuya, Pal, Fergus, Couch, Jeffrey N, Weitzel, Aaron, Elliott, Melissa, Southey, Robert, Winqvist, Douglas F, Easton, William D, Foulkes, Antonis C, Antoniou, Marc, Tischkowitz
المصدر: J Clin Oncol
مصطلحات موضوعية: Adult, Aged, 80 and over, Male, Ovarian Neoplasms, Risk, Internationality, Age Factors, Middle Aged, Breast Neoplasms, Male, Pancreatic Neoplasms, Neoplasms, RAPID COMMUNICATIONS, Humans, Female, Genetic Predisposition to Disease, Fanconi Anemia Complementation Group N Protein, Germ-Line Mutation, Aged
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::cf42d4788d5d2d210088fc88878c6fa8
https://pubmed.ncbi.nlm.nih.gov/31841383 -
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المؤلفون: Pavel Dundr, Ivana Tichá, Libor Macurek, Nikola Hájková, Zdenek Kleibl, Andra S. Martinikova, Eva Krkavcová, Romana Michálková, Petra Zemankova, Madiha Kanwal, Ondrej Kodet, Radek Jaksa, Jan Hojny, Kristyna Nemejcova, Miroslav Dura, Michaela Bartu
المصدر: Scientific Reports
Scientific Reports, Vol 9, Iss 1, Pp 1-15 (2019)مصطلحات موضوعية: Adult, Male, Proto-Oncogene Proteins B-raf, Skin Neoplasms, DNA Repair, MAP Kinase Signaling System, DNA repair, lcsh:Medicine, Biology, Predictive markers, Nodular melanoma, Article, Chromatin remodeling, Tight Junctions, Young Adult, Gene Frequency, Loss of Function Mutation, Biomarkers, Tumor, medicine, Humans, Genetic Predisposition to Disease, lcsh:Science, Melanoma, Gene, Loss function, Aged, Aged, 80 and over, Multidisciplinary, lcsh:R, Cell Cycle, High-Throughput Nucleotide Sequencing, Middle Aged, Cell cycle, Chromatin Assembly and Disassembly, medicine.disease, Cutaneous melanoma, Cancer research, lcsh:Q, Female, Tumor Suppressor Protein p53, Biomarkers
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المؤلفون: Marketa Janatova, Hana Hartmannová, Katerina Hodanova, Petra Kleiblova, Jan Hojny, Michal Vocka, Petra Zemankova, Filip Lhota, Ondrej Mestak, Viktor Stranecky, Jana Soukupova, Jan Sevcik, Zdenek Kleibl, D. Pavlista
المصدر: Gene. 637:41-49
مصطلحات موضوعية: 0301 basic medicine, animal structures, Breast Neoplasms, Biology, Germline, Transcriptome, 03 medical and health sciences, Multiplex polymerase chain reaction, RNA Isoforms, Genetics, Humans, Gene, BRCA1 Protein, Alternative splicing, Computational Biology, High-Throughput Nucleotide Sequencing, General Medicine, Alternative Splicing, 030104 developmental biology, Cell culture, Mutation, embryonic structures, RNA splicing, Female, Identification (biology), Multiplex Polymerase Chain Reaction
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5Women at high risk of breast cancer: Molecular characteristics, clinical presentation and management
المؤلفون: Vessela N. Kristensen, Zdenek Kleibl
المصدر: The Breast. 28:136-144
مصطلحات موضوعية: 0301 basic medicine, Proband, Oncology, medicine.medical_specialty, PALB2, Genes, BRCA2, Genes, BRCA1, Breast Neoplasms, Penetrance, Ataxia Telangiectasia Mutated Proteins, Protein Serine-Threonine Kinases, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, AMP-Activated Protein Kinase Kinases, Antigens, CD, Risk Factors, Internal medicine, medicine, Humans, PTEN, Genetic Predisposition to Disease, skin and connective tissue diseases, CHEK2, biology, business.industry, Tumor Suppressor Proteins, PTEN Phosphohydrolase, Nuclear Proteins, Cancer, General Medicine, Cadherins, medicine.disease, FANCA, Checkpoint Kinase 2, 030104 developmental biology, 030220 oncology & carcinogenesis, Mutation, biology.protein, Female, Surgery, Tumor Suppressor Protein p53, Fanconi Anemia Complementation Group N Protein, business, Biomarkers
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المؤلفون: Lenka Stolarova, Libor Macurek, Aleš Panczak, Klara Lhotova, Marta Cerna, Stanislav Kmoch, Monika Burocziova, Jana Soukupova, Katerina Krizova, Jaroslav Kotlas, Viktor Stranecky, Petra Kleiblova, Kamila Burdova, Marketa Janatova, Jan Hojny, Michal Vocka, Petra Zemankova, Kamila Vesela, Jana Červenková, Jan Sevcik, Ondrej Havranek, Filip Lhota, Zdenek Kleibl, Eva Machackova, Spiros Tavandzis, Martina Zimovjanova, Lenka Foretova, Michaela Schneiderova, Marianna Borecka
المصدر: International journal of cancer. 145(7)
مصطلحات موضوعية: Adult, Male, Cancer Research, Mutation, Missense, Breast Neoplasms, Biology, medicine.disease_cause, Germline, Breast Neoplasms, Male, Cell Line, 03 medical and health sciences, Gene Knockout Techniques, Young Adult, 0302 clinical medicine, Germline mutation, Breast cancer, medicine, Missense mutation, Humans, Genetic Predisposition to Disease, CHEK2, Gene, Germ-Line Mutation, Aged, Czech Republic, Sequence Deletion, Aged, 80 and over, Ovarian Neoplasms, Mutation, Middle Aged, medicine.disease, Checkpoint Kinase 2, Oncology, 030220 oncology & carcinogenesis, Case-Control Studies, Cancer research, Female, Ovarian cancer
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المؤلفون: Marianna Borecka, Jan Sevcik, Zdenek Kleibl, Petra Kleiblova, Marketa Janatova, Jana Soukupova, Pavel Soucek, Michal Vocka, Petra Zemankova
المصدر: Cancer Genetics. 209:199-204
مصطلحات موضوعية: Male, 0301 basic medicine, Oncology, Cancer Research, medicine.medical_specialty, Genotype, endocrine system diseases, Family Cancer History, PALB2, DNA Mutational Analysis, Population, Biology, Bioinformatics, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, Internal medicine, Pancreatic cancer, Genetics, medicine, Humans, Genetic Predisposition to Disease, education, Molecular Biology, Genotyping, Czech Republic, education.field_of_study, Mutation, Tumor Suppressor Proteins, Nuclear Proteins, Middle Aged, medicine.disease, digestive system diseases, Pancreatic Neoplasms, 030104 developmental biology, 030220 oncology & carcinogenesis, Female, Fanconi Anemia Complementation Group N Protein, Carcinoma, Pancreatic Ductal
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المؤلفون: Jana Soukupova, Pavel Dundr, Marketa Janatova, Petr Pohlreich, J. Stribrna, Petra Kleiblova, Aleš Panczak, Zdenek Kleibl, Kamila Vesela, Martina Zimovjanova
المصدر: Cancer Epidemiology, Biomarkers & Prevention. 22:2323-2332
مصطلحات موضوعية: Epidemiology, PALB2, DNA Mutational Analysis, Genes, BRCA2, Molecular Sequence Data, Nonsense mutation, Genes, BRCA1, Breast Neoplasms, Biology, Frameshift mutation, Breast cancer, Risk Factors, Gene duplication, Prevalence, medicine, Humans, Genetic Predisposition to Disease, Multiplex ligation-dependent probe amplification, skin and connective tissue diseases, Ovarian Neoplasms, Genetics, Base Sequence, Tumor Suppressor Proteins, Nuclear Proteins, medicine.disease, Pedigree, Oncology, Case-Control Studies, Mutation testing, Female, Fanconi Anemia Complementation Group N Protein, Ovarian cancer, Gene Deletion
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d60fdc89992277c7292bbaa896d86da9
https://doi.org/10.1158/1055-9965.epi-13-0745-t -
9
المؤلفون: Steffen Emmert, Holger Thiele, Evelin Schröck, Eva Machackova, Karl Hackmann, Steffen Schubert, Filip Lhota, Luisa Mackenroth, Barbara Klink, Andreas Rump, Janin Lehmann, Romy Opitz, Karin Kast, Elitza Betcheva-Krajcir, Anna Benet-Pagès, Jan Dominik Kuhlmann, Petra Zemankova, Pauline Wimberger, Zdenek Kleibl, Nataliya DiDonato, Elke Holinski-Feder, Anke M. Nissen, Ramūnas Janavičius, Lenka Foretova
المساهمون: Eng, Charis
المصدر: PLoS Genetics
PLoS Genetics, Vol 12, Iss 8, p e1006248 (2016)مصطلحات موضوعية: 0301 basic medicine, Cancer Research, DNA Repair, Breast cancer, Frameshift mutation, Mutation databases, Ovarian cancer, DNA transcription, DNA repair, Luciferase, Mutation, medicine.disease_cause, Biochemistry, Database and Informatics Methods, 0302 clinical medicine, Breast Tumors, Medicine and Health Sciences, Missense mutation, Frameshift Mutation, Genetics (clinical), Genetics, Ovarian Neoplasms, 3. Good health, Ovarian Cancer, Enzymes, Nucleic acids, Oncology, 030220 oncology & carcinogenesis, Female, Oxidoreductases, Research Article, Heterozygote, lcsh:QH426-470, Mutation, Missense, Breast Neoplasms, Biology, Research and Analysis Methods, 03 medical and health sciences, Germline mutation, Breast Cancer, medicine, Humans, Genetic Predisposition to Disease, Molecular Biology, Gene, Ecology, Evolution, Behavior and Systematics, Germ-Line Mutation, Xeroderma Pigmentosum Group D Protein, Biology and Life Sciences, Cancers and Neoplasms, Proteins, DNA, medicine.disease, lcsh:Genetics, 030104 developmental biology, Biological Databases, Mutation Databases, Enzymology, ERCC2, Gene expression, Gynecological Tumors
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المؤلفون: Filip Lhota, Marketa Janatova, Michal Vocka, Ivana Tichá, Zdenek Kleibl, Marianna Borecka, Petra Kleiblova, Petra Zemankova, Jana Soukupova, Pavel Soucek
المصدر: Gene. 587(2)
مصطلحات موضوعية: 0301 basic medicine, Male, Poor prognosis, Pancreatic ductal adenocarcinoma, endocrine system diseases, medicine.medical_treatment, Cell Cycle Proteins, Biology, Adenocarcinoma, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Pancreatic cancer, Genetics, medicine, Humans, Genetic Predisposition to Disease, Allele, Gene, Chemotherapy, Mutation, Nuclear Proteins, General Medicine, Middle Aged, medicine.disease, digestive system diseases, Pedigree, Czechoslovakia, Pancreatic Neoplasms, 030104 developmental biology, 030220 oncology & carcinogenesis, Cancer research, Female, Deleterious mutation, Gene Deletion, Carcinoma, Pancreatic Ductal
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