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1Academic Journal
المؤلفون: Magdalena Koczkowska, Natalia Krawczynska, Maciej Stukan, Alina Kuzniacka, Izabela Brozek, Marcin Sniadecki, Jaroslaw Debniak, Dariusz Wydra, Wojciech Biernat, Piotr Kozlowski, Janusz Limon, Bartosz Wasag, Magdalena Ratajska
المصدر: Cancers; Volume 10; Issue 11; Pages: 442
مصطلحات موضوعية: ovarian cancer, low-penetrance gene, BRCA1 /2, PARP1 inhibitor, next-generation sequencing, CHEK2, NBN, BARD1, mismatch repair genes
وصف الملف: application/pdf
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المؤلفون: Elżbieta Senkus, Jolanta Szade, Izabela Brozek, Marzena Wełnicka-Jaśkiewicz, Barbara Radecka, Anna Kowalczyk, Jacek Jassem, Anna J. Żaczek, Beata Pieczyńska
المصدر: The Breast. 22:425-430
مصطلحات موضوعية: Adult, Oncology, medicine.medical_specialty, Breast Neoplasms, Vimentin, Neoplasms, Multiple Primary, Internal medicine, Biomarkers, Tumor, medicine, Genetic predisposition, Humans, skin and connective tissue diseases, Aged, Ovarian Neoplasms, Tissue microarray, biology, business.industry, Incidence (epidemiology), Carcinoma, Ductal, Breast, Keratin-6, General Medicine, Middle Aged, Cadherins, medicine.disease, Immunohistochemistry, Phenotype, ErbB Receptors, Ki-67 Antigen, Receptors, Estrogen, Tissue Array Analysis, Tumor phenotype, biology.protein, Keratin-5, Female, Surgery, Receptors, Progesterone, Ovarian cancer, business
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المؤلفون: Magdalena Ratajska, Izabela Brozek, Anna M. Piskorz, Janusz Limon, Hanna Kusmierek, Åke Borg, Wojciech Biernat, Ewelina Antoszewska
المصدر: Breast Cancer Research and Treatment. 131:89-97
مصطلحات موضوعية: Adult, Cancer Research, Ubiquitin-Protein Ligases, DNA Mutational Analysis, Nonsense mutation, Exonic splicing enhancer, Breast Neoplasms, Biology, medicine.disease_cause, Exon, Breast cancer, Germline mutation, Genotype, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, skin and connective tissue diseases, Aged, BRCA2 Protein, Ovarian Neoplasms, Genetics, Mutation, Base Sequence, BRCA1 Protein, Tumor Suppressor Proteins, Cancer, Sequence Analysis, DNA, Middle Aged, medicine.disease, Pedigree, Oncology, Cancer research, Female, Apoptosis Regulatory Proteins
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المؤلفون: Maciej Stukan, Magdalena Stepnowska, Janusz Emerich, Janusz Limon, Jarosław Debniak, Karolina Ochman, L Morzuch, Izabela Brozek, Magdalena Ratajska
المصدر: Journal of Applied Genetics. 50:379-384
مصطلحات موضوعية: Genes, BRCA2, Genes, BRCA1, Loss of Heterozygosity, Biology, Loss of heterozygosity, Ovarian tumor, Germline mutation, Risk Factors, Genotype, Genetics, medicine, Humans, Germ-Line Mutation, Ovarian Neoplasms, Chromosomes, Human, Pair 13, General Medicine, medicine.disease, Molecular biology, Chromosome 17 (human), Hereditary Diseases, Microsatellite, Female, Poland, Ovarian cancer, Chromosomes, Human, Pair 17, Microsatellite Repeats
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المصدر: Pediatria Polska. 82:36-41
مصطلحات موضوعية: Gynecology, medicine.medical_specialty, business.industry, Pediatrics, Perinatology and Child Health, medicine, business
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المؤلفون: Izabela Brozek, Katarzyna Klonowska, Alina Kuzniacka, Marcin Sniadecki, Maciej Stukan, Irmgard Irminger-Finger, Magdalena Bałut, Dariusz Wydra, Janusz Limon, Jarosław Debniak, Beata Nowakowska, Magdalena Koczkowska, Magdalena Ratajska, Piotr Kozlowski, Karol Czubak, Agnieszka Zmienko
المصدر: Scientific Reports
مصطلحات موضوعية: Ubiquitin-Protein Ligases, DNA Mutational Analysis, Mutation, Missense, Breast Neoplasms, Biology, Polymorphism, Single Nucleotide, Article, White People, BARD1, Multiplex polymerase chain reaction, medicine, Humans, Multiplex ligation-dependent probe amplification, COLD-PCR, Ovarian Neoplasms, Multidisciplinary, BARD1 Gene, Base Sequence, Point mutation, Tumor Suppressor Proteins, medicine.disease, Cancer research, Female, Poland, Ovarian cancer, Multiplex Polymerase Chain Reaction
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المؤلفون: Stephen P. Robertson, Lesley C. Adès, Arthur Grix, Vazken M. Der Kaloustian, Tamás Illés, Deborah J. Shears, Brenda McInnes, Zandra A. Jenkins, Geert Mortier, Sixto García-Miñaur, Timothy R. Morgan, Andrew Green, Charles I. Scott, Salim Aftimos, Ruth Newbury-Ecob, Linda Nicholson, Deborah Krakow, Ray Lewkonia, Odile Boute, Andrea Superti-Furga, Mieke M. van Haelst, Margo L. Whiteford, Izabela Brozek, Grazia Macini, Mohnish Suri, Andrew O.M. Wilkie, Torunn Fiskerstrand, Karolina Ochman
المساهمون: Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D)
المصدر: Robertson, S P, Jenkins, Z A, Morgan, T, Adès, L, Aftimos, S, Boute, O, Fiskerstrand, T, Garcia-Miñaur, S, Grix, A, Green, A, Der Kaloustian, V, Lewkonia, R, McInnes, B, van Haelst, M M, Mancini, G, Macini, G, Illés, T, Mortier, G, Newbury-Ecob, R, Nicholson, L, Scott, C I, Ochman, K, Brozek, I, Shears, D J, Superti-Furga, A, Suri, M, Whiteford, M, Wilkie, A O M & Krakow, D 2006, ' Frontometaphyseal dysplasia : mutations in FLNA and phenotypic diversity ', American Journal of Medical Genetics Part A, vol. 140, no. 16, pp. 1726-36 . https://doi.org/10.1002/ajmg.a.31322
American Journal of Medical Genetics Part A, 140(16), 1726-36. Wiley-Liss Inc.مصطلحات موضوعية: Proband, Adult, Male, Filamins, Biology, Filamin, medicine.disease_cause, Osteochondrodysplasias, Cohort Studies, Contractile Proteins, Locus heterogeneity, Genes, X-Linked, X Chromosome Inactivation, Genetics, medicine, FLNA, Missense mutation, Humans, Genetics (clinical), Mutation, Microfilament Proteins, Genetic Variation, Middle Aged, medicine.disease, Osteochondrodysplasia, Magnetic Resonance Imaging, Radiography, Phenotype, Dysplasia, Child, Preschool, Female
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المؤلفون: Katarzyna Jakubowska, Józef Kładny, Barbara Wysocka, Janina Suchy, D. Sorokin, S Niepsuj, Zbigniew Banaszkiewicz, Cezary Cybulski, Marek Bębenek, MM Sąsiadek, E Kowalska, Andrzej Pławski, P Richter, Małgorzata Stawicka, A Łącka-Wojciechowska, Dariusz Godlewski, Jerzy Kowalczyk, Hanna Janiszewska, Tadeusz Dębniak, Grzegorz Kurzawski, Oleg Oszurek, Izabela Brozek, Marcin Lener, Jacek Gronwald, Ewa Klujszo-Grabowska, Rodney J. Scott, Jakub Lubiński, Krzysztof Safranow, Andrzej Rozmiarek, Z Grzebieniak, Tomasz Byrski, Anna Jakubowska, Ryszard Słomski, D Czudowska, Agnieszka Stembalska, Dorota Oszutowska, Tomasz Huzarski, E. Kilar, Arkadiusz Jawień, Stanisław Góźdź, Ł Fiszer-Maliszewska, Janusz Limon
المصدر: Clinical Genetics. 69:40-47
مصطلحات موضوعية: Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Mutation, nutritional and metabolic diseases, Biology, medicine.disease_cause, MLH1, digestive system diseases, Germline, Germline mutation, MSH2, medicine, Missense mutation, DNA mismatch repair, Multiplex ligation-dependent probe amplification, neoplasms, Genetics (clinical)
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المؤلفون: Jerry Pelletier, Christian Spangenberg, Stephan Fees, Maria Korzon, Thorsten Enklaar, Robert Lucito, Peter Schmidtke, Bernhard Zabel, David E. Housman, Dirk Prawitt, Barbara Gärtner-Rupprecht, Janusz Limon, Dirk Reutzel, Monika Oswald, Izabela Brozek, Ekkehart Lausch
المصدر: Proceedings of the National Academy of Sciences. 102:4085-4090
مصطلحات موضوعية: Male, CCCTC-Binding Factor, Beckwith-Wiedemann Syndrome, endocrine system diseases, Beckwith–Wiedemann syndrome, Insulator (genetics), Biology, Wilms Tumor, Genomic Imprinting, Insulin-Like Growth Factor II, Gene duplication, medicine, Humans, Imprinting (psychology), Sequence Deletion, Genetics, Multidisciplinary, Base Sequence, Chromosomes, Human, Pair 11, Wilms' tumor, DNA Methylation, Biological Sciences, medicine.disease, female genital diseases and pregnancy complications, Pedigree, DNA-Binding Proteins, Repressor Proteins, CTCF, DNA methylation, Female, Genomic imprinting
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المؤلفون: Tomasz Milczek, Karolina Ochman, Ewa Majdak, Cees J. Cornelisse, Janusz Limon, Magdalena Perkowska, Geertruida H. de Bock, Jarosław Debniak, Jacek Jassem, Izabela Brozek, Peter Devilee, Janusz Emerich
المساهمون: Life Course Epidemiology (LCE), Damage and Repair in Cancer Development and Cancer Treatment (DARE), Faculteit Medische Wetenschappen/UMCG
المصدر: European Journal of Cancer, 41(1), 143-150. ELSEVIER SCI LTD
مصطلحات موضوعية: MISSENSE MUTATIONS, Cancer Research, Pathology, endocrine system diseases, Genes, BRCA2, Genes, BRCA1, Gene mutation, Hyperthyroidism, Gastroenterology, FAMILIES, Epidemiology, Missense mutation, unclassified variants, skin and connective tissue diseases, clinical correlations, Ovarian Neoplasms, Middle Aged, Pedigree, NONSENSE, Oncology, hereditary ovarian carcinoma, Female, HORMONES, JEWISH WOMEN, Infertility, Female, BRCA1, BRCA2, Adult, Infertility, Heterozygote, medicine.medical_specialty, CARCINOMA, Breast Neoplasms, Biology, FREQUENCY, BREAST, Internal medicine, Carcinoma, medicine, Humans, BRCA2 MUTATIONS, Pathological, Aged, Polymorphism, Genetic, BRCA1, medicine.disease, BRCA2, GENE, Multivariate Analysis, Hereditary Ovarian Carcinoma, Ovarian cancer
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المؤلفون: Magdalena Perkowska, Marek Szwiec, Małgorzata Stawicka, Jacek Gronwald, Bohdan Górski, Dariusz Godlewski, Kazimierz Drosik, Jan Koc, Ewa Grzybowska, Katarzyna Lamperska, Stanisław Góźdź, Roman Miturski, Elwira Stróżyk, Janusz Menkiszak, Helena Zientek, Hanna Janiszewska, Marek Bębenek, Izabela Brozek, Małgorzata Foszczyńska-Kłoda, Steven A. Narod, Izabella Rzepka-Górska, Anna Jakubowska, Tomasz Byrski, Jerzy Kowalczyk, Tomasz Huzarski, Anna Plużańska, Olga Haus, Bernard Waśko, S Niepsuj, Jan Lubinski, Andrzej Rozmiarek, Beata Kozak-Klonowska, Andrzej Mackiewicz, K. Urbański
المصدر: International Journal of Cancer. 106:942-945
مصطلحات موضوعية: Gynecology, Oncology, endocrine system, Cancer Research, medicine.medical_specialty, Mutation, endocrine system diseases, Tumor suppressor gene, business.industry, Ovary, medicine.disease, medicine.disease_cause, female genital diseases and pregnancy complications, medicine.anatomical_structure, Internal medicine, Epidemiology, medicine, Genetic predisposition, Family history, skin and connective tissue diseases, Ovarian cancer, business, Founder effect
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المؤلفون: Janusz Limon, Iwona Kardaś, Jolanta Wierzba, Anna Balcerska, Agnieszka Woźniak, Izabela Brozek, Barbara Wysocka, Jerzy Kowalczyk
المصدر: Annales de Génétique. 45:143-146
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Monosomy, Robertsonian translocation, Trisomy, Chromosomal translocation, Biology, medicine.disease_cause, Translocation, Genetic, Genetics, medicine, Humans, Mating, Child, In Situ Hybridization, Fluorescence, Sex Chromosome Aberrations, X chromosome, Chromosome Aberrations, Chromosomes, Human, Pair 14, Chromosomes, Human, X, Partial Trisomy, Chromosomes, Human, Pair 13, Karyotype, medicine.disease, Pedigree, Karyotyping, Chromosomes, Human, Pair 5, Female, 5q trisomy
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المؤلفون: Janusz Limon, Zofia Helias-Rodzewicz, Pawel Stankiewicz, Agnieszka Wozniak, Jacek Pilch, Tadeusz Mazurczak, J. Wirth, Ewa Bocian, Jolanta Wierzba, Izabela Brozek, Iwona Kardas, Anna Balcerska
المصدر: American Journal of Medical Genetics. 101:226-239
مصطلحات موضوعية: Genetics, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, medicine.diagnostic_test, Breakpoint, Ring chromosome, Cytogenetics, Chromosome, Biology, Subtelomere, Molecular biology, Chromosome 18, dup, medicine, Genetics (clinical), Fluorescence in situ hybridization
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0d1974d781b19ddc0eda48188a67e558
https://doi.org/10.1002/1096-8628(20010701)101:3<226::aid-ajmg1349>3.0.co;2-# -
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المؤلفون: Jan Lubinski, Bogusław Nedoszytko, Stanislaw Zajaczek, Izabela Brozek, Janusz Limon, Andrzej Hellmann, Krzysztof Mrózek
المصدر: Cancer Genetics and Cytogenetics. 83:75-81
مصطلحات موضوعية: Adult, Male, Cancer Research, medicine.medical_specialty, Skin Neoplasms, Sister chromatid exchange, Biology, Genetics, medicine, Humans, Sezary Syndrome, Lymphocytes, Phytohemagglutinins, Molecular Biology, Aged, Chromosome Aberrations, Gene Rearrangement, Cell Cycle, Breakpoint, Cytogenetics, Chromosome Mapping, Chromosome, Karyotype, Gene rearrangement, Middle Aged, Cell cycle, Molecular biology, Chromosome 17 (human), Karyotyping, Immunology, Female, Sister Chromatid Exchange
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المؤلفون: Elżbieta Senkus-Konefka, Åke Borg, Magdalena Ratajska, Janusz Limon, Izabela Brozek, Grazia Palomba, Milena Casula, Marina Pisano, Giuseppe Palmieri, Jacek Jassem, Magdalena Stepnowska
المصدر: Oncology Reports 19 (2008): 263–268.
info:cnr-pdr/source/autori:Ratajska M; Brozek I; Senkus-Konefka E; Jassem J; Stepnowska M; Palomba G; Pisano M; Casula M; Palmieri G; Borg A; Limon J./titolo:BRCA1 and BRCA2 point mutations and large rearrangements in breast and ovarian cancer families in Northern Poland/doi:/rivista:Oncology Reports/anno:2008/pagina_da:263/pagina_a:268/intervallo_pagine:263–268/volume:19
Scopus-Elsevierمصطلحات موضوعية: Adult, Male, Cancer Research, endocrine system diseases, DNA Mutational Analysis, Genes, BRCA2, Genes, BRCA1, Breast Neoplasms, Biology, medicine.disease_cause, Polymerase Chain Reaction, Denaturing high performance liquid chromatography, Breast Neoplasms, Male, Breast cancer, breast cancer, medicine, Humans, Point Mutation, Family, Genetic Predisposition to Disease, Multiplex ligation-dependent probe amplification, Genetic Testing, skin and connective tissue diseases, multiplex ligation-dependent probe amplification, Chromatography, High Pressure Liquid, Aged, Genetics, Gene Rearrangement, Ovarian Neoplasms, Mutation, Point mutation, Cancer, General Medicine, Gene rearrangement, Middle Aged, medicine.disease, BRCA1, BRCA2, Founder Effect, Pedigree, ovarian cancer, Oncology, Female, Poland, Founder effect
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المصدر: Anticancer research. 27(4C)
مصطلحات موضوعية: Adult, Ovarian Neoplasms, Genes, BRCA1, Nuclear Proteins, Breast Neoplasms, Cell Cycle Proteins, DNA, Neoplasm, Middle Aged, Humans, Female, Genetic Predisposition to Disease, Poland, Alleles, Germ-Line Mutation, Aged
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المؤلفون: Izabela Brozek, Magdalena Stepnowska, Magdalena Ratajska, Karolina Ochman, Janusz Emerich, L Morzuch, Janusz Limon, Jarosław Debniak, Maciej Stukan
المصدر: Gynecologic oncology. 108(2)
مصطلحات موضوعية: Oncology, Adult, medicine.medical_specialty, endocrine system diseases, Genes, BRCA2, Genes, BRCA1, Breast Neoplasms, medicine.disease_cause, Denaturing high performance liquid chromatography, Exon, Germline mutation, Internal medicine, Ovarian carcinoma, medicine, Humans, Family history, skin and connective tissue diseases, Gene, Germ-Line Mutation, Aged, Gynecology, Family Health, Ovarian Neoplasms, Mutation, business.industry, Obstetrics and Gynecology, Middle Aged, medicine.disease, Female, Poland, Ovarian cancer, business
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المؤلفون: Karolina Ochman, Iwona Kardaś, L Morzuch, Izabela Brozek, Janusz Limon, Jarosław Debniak, Magdalena Ratajska, Janusz Emerich, Maciej Stukan
المصدر: Scopus-Elsevier
Hereditary Cancer in Clinical Practice, Vol 4, Iss 1, Pp 39-42 (2006)
Hereditary Cancer in Clinical Practiceمصطلحات موضوعية: Pathology, medicine.medical_specialty, HER2, lcsh:QH426-470, endocrine system diseases, BRCA, medicine.disease_cause, lcsh:RC254-282, Breast cancer, medicine, HER2 Amplification, Ovarian tumours, skin and connective tissue diseases, neoplasms, Genetics (clinical), Mutation, medicine.diagnostic_test, business.industry, Research, Significant difference, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, medicine.disease, female genital diseases and pregnancy complications, Human genetics, lcsh:Genetics, ovarian cancer, Oncology, outcome, Cancer research, business, Ovarian cancer, Fluorescence in situ hybridization
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المؤلفون: Dorota Nowakowska, Wojciech Juzwa, Michał Drews, Andrzej Pławski, Stanislaw Zajaczek, Tomasz Banasiewicz, Ryszard Słomski, Jakub Lubiński, Izabela Brozek, Daniel Lipiński, Diana Hodorowicz-Zaniewska, Jacek Paszkowski, Grzegorz Kurzawski, Piotr Krokowicz, E Czkwaniec, Tomasz Byrski, Joanna Zeyland, A Strembalska, Tomasz Gach
المصدر: Scopus-Elsevier
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Genes, APC, Adolescent, Colorectal cancer, Adenomatous polyposis coli, DNA Mutational Analysis, Familial adenomatous polyposis, Exon, Germline mutation, Gardner Syndrome, Molecular genetics, Genetics, medicine, Leukocytes, Humans, Child, Gene, Genetics (clinical), Germ-Line Mutation, biology, Brain Neoplasms, DNA, Middle Aged, medicine.disease, digestive system diseases, Adenomatous Polyposis Coli, Child, Preschool, Cancer research, biology.protein, Female, Poland, Online Mutation Report
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المؤلفون: Izabela, Brozek, Małgorzata, Babińska, Iwona, Kardaś, Agnieszka, Woźniak, Anna, Balcerska, Andrzej, Hellmann, Janusz, Limon
المصدر: Journal of applied genetics. 44(3)
مصطلحات موضوعية: Chromosome Aberrations, Leukemia, Myeloid, Acute, Leukemia, Karyotyping, Humans, Precursor Cell Lymphoblastic Leukemia-Lymphoma, Chromosomes, Human, Pair 7, In Situ Hybridization, Fluorescence