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1
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 -
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المؤلفون: Ivana Tichá, Jaroslav Kotlas, Martina Zimovjanova, Michal Zikan, Zdenek Kleibl, Martin Mateju, Petr Pohlreich, J. Stribrna
المصدر: Breast Cancer Research and Treatment. 124:337-347
مصطلحات موضوعية: Cancer Research, DNA Mutational Analysis, Polymerase Chain Reaction, Chromosome Breakpoints, Exon, 0302 clinical medicine, Risk Factors, Mass Screening, skin and connective tissue diseases, Czech Republic, Sequence Deletion, Gene Rearrangement, Ovarian Neoplasms, Genetics, Comparative Genomic Hybridization, 0303 health sciences, BRCA1 Protein, Exons, Middle Aged, Pedigree, 3. Good health, Oncology, 030220 oncology & carcinogenesis, Female, Adult, Molecular Sequence Data, Breast Neoplasms, Biology, Risk Assessment, 03 medical and health sciences, Breast cancer, Predictive Value of Tests, medicine, Humans, Point Mutation, Genetic Predisposition to Disease, Genetic Testing, Multiplex ligation-dependent probe amplification, 030304 developmental biology, BRCA2 Protein, Base Sequence, Point mutation, Cancer, Gene rearrangement, medicine.disease, Introns, Mutagenesis, Insertional, Haplotypes, Cancer research, Overlapping gene, Comparative genomic hybridization
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المؤلفون: J. Stribrna, Petr Pohlreich, Petra Boudova, Zdenek Kleibl, Jana Soukupova, Michal Vocka, Marketa Janatova, Petra Kleiblova
المصدر: PLoS ONE, Vol 10, Iss 6, p e0127711 (2015)
PLoS ONEمصطلحات موضوعية: DNA, Complementary, DNA Mutational Analysis, Molecular Sequence Data, Population, lcsh:Medicine, Biology, medicine.disease_cause, High Resolution Melt, Germline mutation, Risk Factors, medicine, Humans, Missense mutation, Family, Genetic Predisposition to Disease, education, lcsh:Science, Czech Republic, BRCA2 Protein, Ovarian Neoplasms, Genetics, education.field_of_study, Mutation, Multidisciplinary, Base Sequence, BRCA1 Protein, lcsh:R, Exons, Introns, DNA-Binding Proteins, Mutation testing, RAD51C, Female, lcsh:Q, Genes, Neoplasm, Research Article
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المؤلفون: Emilie Lukášová, Jan Sevcik, Marketa Janatova, Petr Pohlreich, Filip Lhota, Petra Kleiblova, Martin Falk, Lenka Weiterová, Lenka Štefančíková, Zdenek Kleibl, Stanislav Kozubek
المصدر: Cellular signalling. 24(5)
مصطلحات موضوعية: Reading Frames, DNA End-Joining Repair, DNA damage, DNA repair, Molecular Sequence Data, Gene Expression, Breast Neoplasms, Biology, Cell Line, Tumor, Gene expression, Humans, Protein Isoforms, DNA Breaks, Double-Stranded, Amino Acid Sequence, skin and connective tissue diseases, Sequence Deletion, Genetics, Cell Nucleus, Base Sequence, BRCA1 Protein, Alternative splicing, Cell Biology, Cell biology, Protein Structure, Tertiary, Non-homologous end joining, Gamma Rays, RNA splicing, Female, Homologous recombination
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المؤلفون: Zdenek Kleibl, Stanislav Kormunda, Zuzana Formankova, Matej Bilek, Petra Kleiblova, Jan Novotny, Julie Fidlerova
المصدر: Cancer chemotherapy and pharmacology. 65(4)
مصطلحات موضوعية: Adult, Male, Cancer Research, medicine.medical_specialty, Antimetabolites, Antineoplastic, Methyltransferase, Drug-Related Side Effects and Adverse Reactions, Genotype, medicine.drug_class, DNA Mutational Analysis, Biology, Toxicology, Gastroenterology, Antimetabolite, Denaturing high performance liquid chromatography, Amidohydrolases, Gene Frequency, Internal medicine, Neoplasms, Mucositis, medicine, Odds Ratio, Missense mutation, Humans, Pharmacology (medical), Alleles, Aged, Pharmacology, Genetics, Chi-Square Distribution, Base Sequence, Cancer, Middle Aged, medicine.disease, Oncology, Haplotypes, Dihydropyrimidinase, Toxicity, Mutation, Female, Fluorouracil
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المؤلفون: Zdenek Kleibl, Ondrej Havranek, Jana Prokopcova
المصدر: Journal of biochemical and biophysical methods. 70(3)
مصطلحات موضوعية: Pcr cloning, Biophysics, Breast Neoplasms, Biology, Nucleic Acid Denaturation, Biochemistry, Rapid detection, Nuclear Receptor Coactivator 3, chemistry.chemical_compound, Breast cancer, Trinucleotide Repeats, medicine, Humans, Gene, Genotyping, Chromatography, High Pressure Liquid, DNA Primers, Histone Acetyltransferases, Genetics, Polymorphism, Genetic, Base Sequence, DNA, Neoplasm, medicine.disease, Molecular biology, chemistry, Trans-Activators, Female, Repeat polymorphism, Trinucleotide repeat expansion, DNA