المؤلفون: Figlioli, G., Kvist, A., Peterlongo, P.

المصدر: Cancers. 15(13)

مصطلحات موضوعية: breast cancer predisposition, breast cancer risk factors, FANCM PTVs spectrum, protein truncating variants, PTVs, Article, Australia, breast cancer, Canada, cancer risk, cancer susceptibility, cohort analysis, Eastern Europe, European, FANCM gene, female, gene, gene frequency, genetic variability, heterozygote, human, Lithuania, major clinical study, prevalence, risk factor, United States, Medicin och hälsovetenskap, Klinisk medicin, Cancer och onkologi, Medical and Health Sciences, Clinical Medicine, Cancer and Oncology

الوصول الحر: https://lup.lub.lu.se/record/e6ae4001-9360-46fc-96ad-56092b67a108Test
http://dx.doi.org/10.3390/cancers15133313Test

المؤلفون: Hye-Rim Kim, Hyun-Seok Jin, Yong-Bin Eom

المصدر: Genes; Volume 12; Issue 5; Pages: 751

مصطلحات موضوعية: hypertensive kidney disease (HKD), estimated glomerular filtration rate (eGFR), FANCM gene, single nucleotide polymorphism (SNP)

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12050751Test

الإتاحة: https://doi.org/10.3390/genes12050751Test

المؤلفون: Figlioli, Gisella, Brenner, Hermann, Ellberg, Carolina, Hall, Per, Olsson, Håkan, Peterlongo, Paolo

المصدر: npj Breast Cancer BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation EpiHealth: Epidemiology for Health. 5(1)

مصطلحات موضوعية: arginine, arginine 658, ATM protein, BRCA1 protein, BRCA2 protein, butadiene diepoxide, checkpoint kinase 2, olaparib, partner and localizer of BRCA2, unclassified drug, Article, ATM protein gene, BRCA1 protein gene, BRCA2 protein gene, cell survival, checkpoint kinase 2 gene, chromosomal instability, chromosome fragility, controlled study, FANCM gene, female, gene, gene expression, gene mutation, genotype, human, informed consent, major clinical study, mRNA expression level, partner and localizer of BRCA2 gene, phenotype, priority journal, risk factor, sensitivity analysis, survival rate, triple negative breast cancer, Western blotting, Medicin och hälsovetenskap, Klinisk medicin, Cancer och onkologi, Medical and Health Sciences, Clinical Medicine, Cancer and Oncology

الوصول الحر: https://lup.lub.lu.se/record/c1cc6d81-4544-45eb-b7dc-dd5e1a5e72baTest
http://dx.doi.org/10.1038/s41523-019-0127-5Test

المؤلفون: J.A. Encarnación, P. Cerezuela, I. Español, M.R. García, C. Manso, I. De la Fuente, N. Garrigós, A. Viney, J. Minguillon, J. Surrallés

المصدر: European Journal of Medical Genetics
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

مصطلحات موضوعية: Oncology, Adult, Male, medicine.medical_specialty, Anemia, medicine.medical_treatment, Tonsillar Neoplasms, c1511_1515delGAGTA, Antineoplastic Agents, Tonsil cancer, Targeted therapy, Fatal Outcome, Fanconi anemia, hemic and lymphatic diseases, Internal medicine, Genetics, medicine, Genetic predisposition, Humans, FANCM, Genetics (clinical), Chemotherapy, business.industry, Genetic disorder, DNA Helicases, FANCM gene, General Medicine, medicine.disease, Radiation therapy, Fanconi Anemia, Mutation, Carcinoma, Squamous Cell, Cisplatin, Ovarian cancer, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b493131de30ad4a3afd7f38dd7d0ecc2Test
https://www.scopus.com/inward/record.uri?eid=2-s2.0-85120399188&doi=10.1016/j.ejmg.2021.104399&partnerID=40&md5=df362b6dc600908f653bf6a0d2eedfbdTest

المؤلفون: Yong-Bin Eom, Hye-Rim Kim, Hyun-Seok Jin

المصدر: Genes
Volume 12
Issue 5
Genes, Vol 12, Iss 751, p 751 (2021)

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Candidate gene, Linkage disequilibrium, Hypertension, Renal, hypertensive kidney disease (HKD), Renal function, Blood Pressure, Single-nucleotide polymorphism, Genome-wide association study, QH426-470, 030204 cardiovascular system & hematology, Bioinformatics, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, 0302 clinical medicine, single nucleotide polymorphism (SNP), Republic of Korea, Genetics, medicine, Humans, FANCM gene, Genetics (clinical), Aged, business.industry, estimated glomerular filtration rate (eGFR), DNA Helicases, Middle Aged, medicine.disease, Hypertensive kidney disease, 030104 developmental biology, Expression quantitative trait loci, business, Glomerular Filtration Rate, Kidney disease

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df63bac1c61330f2651a8e9aab620620Test

المؤلفون: Johanna I. Kiiski, Miguel Urioste, Melissa C. Southey, Ramunas Janavicius, Finn Cilius Nielsen, Ana Vega, Irene Konstantopoulou, Ana Blanco, Jesús del Valle, Joan Brunet, Emma Tham, Daniele Calistri, Esther Darder, Taru A. Muranen, Maria Rossing, Åke Borg, Aleksander Myszka, Marketa Janatova, Drakoulis Yannoukakos, Laura Papi, Paolo Peterlongo, Bernardo Bonanni, Florentia Fostira, Catarina Santos, Séverine Eon-Marchais, Anders Kvist, Petra Kleiblova, Snezhana Smichkoska, Manuel R. Teixeira, Vilius Rudaitis, Dijana Plaseska-Karanfilska, Conxi Lázaro, Alicia Barroso, Ugnius Mickys, Mariarosaria Calvello, Edith Olah, Virginie Moncoutier, Zdenek Kleibl, Nadine Andrieu, Rimvydas Norvilas, Stepan Chvojka, Paolo Radice, Jana Soukupova, Birgitte Bertelsen, Siranoush Manoukian, Claude Houdayer, Marta Santamariña, Bernard Peissel, Zdenka Vlckova, Ana Osorio, Laura Cortesi, Jacopo Azzollini, Katerina Kubelka-Sabit, Fabienne Lesueur, Valentina Zampiga, Tu Nguyen-Dumont, Javier Benitez, Gisella Figlioli, Hans Ehrencrona, Orland Diez, Therese Törngren, Judith Balmaña, Francesca Gensini, Ruta Marcinkute, Timea Pocza, Angela Toss, Dominique Stoppa-Lyonnet, Ana Peixoto, Heli Nevanlinna

المساهمون: Institut Català de la Salut, [Figlioli G] Genome Diagnostics Program, IFOM - the FIRC Institute for Molecular Oncology, Milan, Italy. [Kvist A] Division of Oncology and Pathology, Department of Clinical Sciences Lund, Lund University, Lund, Sweden. [Tham E] Department of Clinical Genetics, Karolinska University Hospital and Department of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden. [Soukupova J] Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague, Czech Republic. [Kleiblova P] Institute of Biology and Medical Genetics, General University Hospital and First Faculty of Medicine, Charles University, Prague, Czech Republic. [Muranen TA] Department of Obstetrics and Gynecology, Helsinki University Hospital and University of Helsinki, HUS, Helsinki, Finland. [Balmaña J] Hereditary Cancer Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Servei d’Oncologia Mèdica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Diez O] Hereditary Cancer Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Italian Association for Cancer Research, Fondazione Umberto Veronesi, Ministero della Salute (Italia), Region Stockholm (ALF), Ministry of Health (República Checa), Unión Europea. Comisión Europea, Instituto de Salud Carlos III, Centro de Investigación Biomédica en Red - CIBERER (Enfermedades Raras), French National Institute of Cancer (INCa grant), National Health and Medical Research Council (Australia), Hungarian Research Grants, Lietuvos Mokslo Taryba (Lituania), Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF), Associazione Italiana per la Ricerca sul Cancro (AIRC), Ministry of Health, Italy, Ministry of Health, Czech Republic, European Commission, Instituto de Salud Carlos III - ISCIII, Spanish Network on Rare Diseases (CIBERER), National Health and Medical Research Council of Australia, Research Council of Lithuania (LMTLT), European Regional Development Fund (ERDF/FEDER), HUS Gynecology and Obstetrics, Department of Obstetrics and Gynecology, Helsinki University Hospital Area, University of Helsinki, INDIVIDRUG - Individualized Drug Therapy, Clinicum

المصدر: Scientia
Cancers, Basel : MDPI AG, 2020, vol. 12, no. 2, art. no. 292, p. [1-14]
Dipòsit Digital de la UB
Universidad de Barcelona
Repisalud
Instituto de Salud Carlos III (ISCIII)
Cancers, Vol 12, Iss 2, p 292 (2020)
Cancers
Figlioli, G, Kvist, A, Tham, E, Soukupova, J, Kleiblova, P, Muranen, T A, Andrieu, N, Azzollini, J, Balmaña, J, Barroso, A, Benítez, J, Bertelsen, B, Blanco, A, Bonanni, B, Borg, Å, Brunet, J, Calistri, D, Calvello, M, Chvojka, S, Cortesi, L, Darder, E, Del Valle, J, Diez, O, Eon-Marchais, S, Fostira, F, Gensini, F, Houdayer, C, Janatova, M, Kiiski, J I, Konstantopoulou, I, Kubelka-Sabit, K, Lázaro, C, Lesueur, F, Manoukian, S, Marcinkute, R, Mickys, U, Moncoutier, V, Myszka, A, Nguyen-Dumont, T, Nielsen, F C, Norvilas, R, Olah, E, Osorio, A, Papi, L, Peissel, B, Peixoto, A, Plaseska-Karanfilska, D, Pócza, T, Rossing, M, Rudaitis, V & ENIGMA Consortium 2020, ' The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases ', Cancers, vol. 12, no. 2, 292 . https://doi.org/10.3390/cancers12020292Test
Volume 12
Issue 2

مصطلحات موضوعية: 0301 basic medicine, Oncology, Cancer Research, Breast cancer risk factors, Neoplasms::Neoplasms by Site::Breast Neoplasms [DISEASES], ptvs, Càncer - Aspectes genètics, Basic medicine, Breast cancer, 0302 clinical medicine, Mama - Càncer, hemic and lymphatic diseases, FANCM, Breast cancer predisposition, FANCM truncating variants, Mutation spectrum, PTVs, RISK, neoplasias::neoplasias por localización::neoplasias de la mama [ENFERMEDADES], Factors de risc en les malalties, Otros calificadores::Otros calificadores::/genética [Otros calificadores], FANCM GENE, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, 3. Good health, 030220 oncology & carcinogenesis, Gene sequence, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Risk factors in diseases, 3122 Cancers, lcsh:RC254-282, fancm truncating variants, Càncer de mama, breast cancer predisposition, breast cancer risk factors, mutation spectrum, 03 medical and health sciences, Internal medicine, Other subheadings::Other subheadings::/genetics [Other subheadings], medicine, ANEMIA, Allele frequency, Female breast cancer, MUTATIONS, business.industry, nutritional and metabolic diseases, BRCA1, medicine.disease, GENE, 030104 developmental biology, Clinical medicine, C.5791C-GREATER-THAN-T, FANCM Protein, business

وصف الملف: application/pdf; text

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50814983c51d7b6f93b23792330c61faTest
https://doi.org/10.3390/cancers12020292Test

المؤلفون: National Cancer Institute (NCI)

المصدر: A Phase II Study of Talazoparib (BMN 673) in Patients With Homologous Recombination Repair Deficiency Positive Stage IV Squamous Cell Lung Cancer (Lung-Map Sub-Study)

الوصول الحر: https://clinicaltrials.gov/ct2/show/NCT03377556Test

مصطلحات الفهرس: Greece, adult, aged, article, controlled study, Czech Republic, Denmark, estrogen receptor negative breast cancer/et [Etiology], estrogen receptor positive breast cancer/et [Etiology], female, Finland, France, gene, gene frequency, gene sequence, genetic association, genetic variability, human, Hungary, Lithuania, major clinical study, middle aged, Poland, Portugal, Spain, Sweden, tumor suppressor gene, very elderly, FANCM gene, protein truncating variant, Article

URL: https://repository.monashhealth.org/monashhealthjspui/handle/1/29416Test
Cancers
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مصطلحات الفهرس: Greece, adult, aged, article, controlled study, Czech Republic, Denmark, estrogen receptor negative breast cancer/et [Etiology], estrogen receptor positive breast cancer/et [Etiology], female, Finland, France, gene, gene frequency, gene sequence, genetic association, genetic variability, human, Hungary, Lithuania, major clinical study, middle aged, Poland, Portugal, Spain, Sweden, tumor suppressor gene, very elderly, FANCM gene, protein truncating variant, Article

URL: https://repository.monashhealth.org/monashhealthjspui/handle/1/29416Test
Cancers
LibKey Link

مصطلحات الفهرس: mRNA expression level, phenotype, priority journal, risk factor, sensitivity analysis, survival rate, Western blotting, arginine, ATM protein/ec [Endogenous Compound], BRCA1 protein/ec [Endogenous Compound], BRCA2 protein/ec [Endogenous Compound], butadiene diepoxide, checkpoint kinase 2/ec [Endogenous Compound], olaparib, partner and localizer of BRCA2/ec [Endogenous Compound], unclassified drug, ATM protein gene, BRCA1 protein gene, BRCA2 protein gene, checkpoint kinase 2 gene, FANCM gene, partner and localizer of BRCA2 gene, arginine 658, triple negative breast cancer, chromosomal instability, chromosome fragility, controlled study, female, gene, gene expression, gene mutation, genotype, human, informed consent, major clinical study, article, cell survival, Article

URL: Click here for full text options
LibKey Link