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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a79cb59f73a27210fc4c1fb99738dc12
https://doi.org/10.1016/j.gene.2017.09.025

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58e129520e08b30d07b2accc052e6f2c
https://doi.org/10.1016/j.breast.2016.05.006

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05506fe3bde4d4484536aebd76e83ff5
https://doi.org/10.1016/j.cancergen.2016.03.003

المؤلفون: Filip Lhota, Petra Kleiblova, Michal Vocka, Hana Hartmannová, Petra Zemankova, Marketa Janatova, Jana Soukupova, Zdenek Kleibl, Katerina Hodanova, Stanislav Kmoch, Viktor Stranecky

المصدر: Clinical Genetics. 90:324-333

مصطلحات موضوعية: 0301 basic medicine, Genetics, Mutation, DNA repair, PALB2, Biology, medicine.disease_cause, medicine.disease, BRCA2 Protein, Frameshift mutation, 03 medical and health sciences, 030104 developmental biology, Breast cancer, medicine, FANCL, Gene, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d7e3ebe051e527d2d31939da7742526d
https://doi.org/10.1111/cge.12748

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74d68649e05d32f95dc4e1e4c86e62db
https://pubmed.ncbi.nlm.nih.gov/27504877

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76272c6d38d5007cec68a40ce4f03b94
https://pubmed.ncbi.nlm.nih.gov/27150568