المؤلفون: Moreno Cabrera, José Marcos

المساهمون: University/Department: Universitat de Barcelona. Facultat de Medicina i Ciències de la Salut

مرشدي الرسالة: Gel Moreno, Bernat, Lázaro García, Conxi, Monzó Planella, Mariano

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Oncologia, Oncología, Oncology, Malalties hereditàries, Enfermedades hereditarias, Genetic diseases, Seqüència de nucleòtids, Cadenas de nucleótidos, Nucleotide sequence, Bioinformàtica, Bioinformática, Bioinformatics, Diagnòstic, Diagnóstico, Diagnosis, Ciències de la Salut

وصف الملف: application/pdf

URL الوصول: http://hdl.handle.net/10803/672364

المؤلفون: Moreno-Cabrera, José Marcos^{Aff1, Aff2, Aff3}, del Valle, Jesús^{Aff2, Aff3}, Castellanos, Elisabeth, Feliubadaló, Lidia^{Aff2, Aff3}, Pineda, Marta^{Aff2, Aff3}, Brunet, Joan^{Aff2, Aff3, Aff4}, Serra, Eduard^{Aff1, Aff3}, Capellà, Gabriel^{Aff2, Aff3}, Lázaro, Conxi^{Aff2, Aff3}, Gel, Bernat^Aff1

المصدر: European Journal of Human Genetics. 28(12):1645-1655

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المؤلفون: Rofes, Paula, Del Valle, Jesús, Torres Esquius, Sara, Feliubadaló, Lídia, Stradella, Agostina, Moreno-Cabrera, José Marcos, López-Doriga, Adriana, Munté, Elisabet, de Cid, R., Campos, Olga, Cuesta, Raquel, Teulé, Álex, Grau, Èlia, Sanz, Judit, Capellá, G. (Gabriel), Diez, Orland, Brunet, Joan, Balmaña Gelpí, Judith, Lázaro, Conxi, Universitat Autònoma de Barcelona

المساهمون: Institut Català de la Salut, [Rofes P, Del Valle J, Feliubadaló L, Moreno-Cabrera JM] Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, L’Hospitalet de Llobregat, Spain. Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, L’Hospitalet de Llobregat, Spain. Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain. [Torres-Esquius S, Balmaña J] Hereditary Cancer Genetics Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Servei d’Oncologia Mèdica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. [Stradella A] Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, L’Hospitalet de Llobregat, Spain. Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, L’Hospitalet de Llobregat, Spain. Medical Oncology Department, Catalan Institute of Oncology, IDIBELL, L’Hospitalet de Llobregat, Spain. [Díez O] Institut Català de la Salut, Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. Hereditary Cancer Genetics Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Genes
Volume 12
Issue 2
Scientia
Genes, Vol 12, Iss 150, p 150 (2021)
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Dipòsit Digital de la UB
Universidad de Barcelona
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname

مصطلحات موضوعية: 0301 basic medicine, Oncology, medicine.medical_specialty, lcsh:QH426-470, Moderate cancer risk, Hereditary breast and ovarian cancer, Càncer d'ovari, Genetic Phenomena::Genotype::Genetic Predisposition to Disease [PHENOMENA AND PROCESSES], Ovaris - Càncer - Aspectes genètics, hereditary breast and ovarian cancer, Germline, Article, Càncer de mama, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, breast cancer, Triple-negative breast cancer, Ovarian cancer, Internal medicine, Genetics, medicine, BARD1, Genetics (clinical), Genetic testing, fenómenos genéticos::genotipo::predisposición genética a la enfermedad [FENÓMENOS Y PROCESOS], moderate cancer risk, medicine.diagnostic_test, business.industry, Odds ratio, medicine.disease, Penetrance, neoplasias::neoplasias por localización::neoplasias de la mama::neoplasias de mama triple negativos [ENFERMEDADES], lcsh:Genetics, 030104 developmental biology, Neoplasms::Neoplasms::Neoplasms::Neoplastic Syndromes, Hereditary::Hereditary Breast and Ovarian Cancer Syndrome [DISEASES], ovarian cancer, 030220 oncology & carcinogenesis, Cohort, Neoplasms::Neoplasms by Site::Breast Neoplasms::Triple Negative Breast Neoplasms [DISEASES], triple-negative breast cancer, Mama - Càncer - Aspectes genètics, neoplasias::neoplasias::neoplasias::síndromes neoplásicos hereditarios::síndrome hereditario de cáncer de mama y ovario [ENFERMEDADES], business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::134aebb1ef09c473ac618ff1809c7617
http://europepmc.org/articles/PMC7911518

المؤلفون: Rofes, Paula, González, Sara, Navarro, Matilde, Moreno-Cabrera, José Marcos, Solanes, Ares, Darder, Esther, Carrasco, Estela, Iglesias, Sílvia, Salinas, Mónica, Gómez, Carolina, Velasco, Àngela, Tuset, Noemí, Varela, Mar, Llort, Gemma, Ramon y Cajal, Teresa, Grau, Èlia, Dueñas, Núria, de la Ossa Merlano, Napoleón, Matías-Guiu, Xavier, Rivera, Bárbara, Balmaña, Judith, Pineda, Marta, Brunet, Joan, Capellá, Gabriel, del Valle, Jesús, Lázaro, Conxi

المصدر: The Journal of Molecular Diagnostics; November 2021, Vol. 23 Issue: 11 p1452-1459, 8p

المؤلفون: Moreno Cabrera, José Marcos

المساهمون: Universitat Oberta de Catalunya, Ventura Royo, Carles, Gel Moreno, Bernat

المصدر: O2, repositorio institucional de la UOC
Universitat Oberta de Catalunya (UOC)

مصطلحات موضوعية: next generation sequencing, CNV, Informació -- Sistemes d'emmagatzematge i recuperació -- Medicina -- TFM, benchmarking, Información -- Sistemas de almacenamiento y recuperación -- Medicina -- TFM, seqüenciació de nova generació, secuenciación de nueva generación, Information storage and retrieval systems -- Medicine -- TFM

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::b38f160647cf62ecef35551b969782ed
http://hdl.handle.net/10609/72748

المؤلفون: Moreno-Cabrera, José Marcos, Valle, Jesús del, Castellanos, Elisabeth, Feliubadaló, Lidia, Pineda, Marta, Serra, Eduard, Capellá, Gabriel, Lázaro, Conxi, Gel, Bernat

المصدر: Bioinformatics; 11/15/2021, Vol. 37 Issue 22, p4227-4229, 3p

مصطلحات موضوعية: GERM cells, SOURCE code, NUCLEOTIDE sequencing, GENETIC disorders, GENETIC mutation

المؤلفون: del Valle, Jesús, Rofes, Paula, Moreno-Cabrera, José Marcos, López-Dóriga, Adriana, Belhadj, Sami, Vargas-Parra, Gardenia, Teulé, Àlex, Cuesta, Raquel, Muñoz, Xavier, Campos, Olga, Salinas, Mónica, de Cid, Rafael, Brunet, Joan, González, Sara, Capellá, Gabriel, Pineda, Marta, Feliubadaló, Lídia, Lázaro, Conxi

المصدر: Cancers; Apr2020, Vol. 12 Issue 4, p829-829, 1p

مصطلحات موضوعية: BREAST tumor risk factors, APLASTIC anemia, CANCER genetics, CANCER patients, CONFIDENCE intervals, DISEASE susceptibility, LONGITUDINAL method, GENETIC mutation, OVARIAN tumors, RISK assessment, CASE-control method, DESCRIPTIVE statistics, SEQUENCE analysis, ODDS ratio, DISEASE risk factors

المؤلفون: Rofes P; Hereditary Cancer Program, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), Bellvitge Institute for Biomedical Research (IDIBELL), Catalan Institute of Oncology, l'Hospitalet del Llobregat, Spain; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain., González S; Hereditary Cancer Program, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), Bellvitge Institute for Biomedical Research (IDIBELL), Catalan Institute of Oncology, l'Hospitalet del Llobregat, Spain; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain., Navarro M; Hereditary Cancer Program, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), Bellvitge Institute for Biomedical Research (IDIBELL), Catalan Institute of Oncology, l'Hospitalet del Llobregat, Spain; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain; Hereditary Cancer Program, Program for Predictive and Personalized Medicine of Cancer-Germans Trias i Pujol Research Institute (PMPPC-IGTP), Badalona, Spain., Moreno-Cabrera JM; Hereditary Cancer Program, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), Bellvitge Institute for Biomedical Research (IDIBELL), Catalan Institute of Oncology, l'Hospitalet del Llobregat, Spain; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain; Hereditary Cancer Program, Program for Predictive and Personalized Medicine of Cancer-Germans Trias i Pujol Research Institute (PMPPC-IGTP), Badalona, Spain., Solanes A; Hereditary Cancer Program, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), Bellvitge Institute for Biomedical Research (IDIBELL), Catalan Institute of Oncology, l'Hospitalet del Llobregat, Spain; Hereditary Cancer Program, Program for Predictive and Personalized Medicine of Cancer-Germans Trias i Pujol Research Institute (PMPPC-IGTP), Badalona, Spain., Darder E; Hereditary Cancer Program, Catalan Institute of Oncology, Girona Institute for Biomedical Research (IDIBGi), Girona, Spain., Carrasco E; Hereditary Cancer Genetics Group, Vall d'Hebron Institute of Oncology (VHIO), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Iglesias S; Hereditary Cancer Program, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), Bellvitge Institute for Biomedical Research (IDIBELL), Catalan Institute of Oncology, l'Hospitalet del Llobregat, Spain., Salinas M; Hereditary Cancer Program, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), Bellvitge Institute for Biomedical Research (IDIBELL), Catalan Institute of Oncology, l'Hospitalet del Llobregat, Spain., Gómez C; Hereditary Cancer Program, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), Bellvitge Institute for Biomedical Research (IDIBELL), Catalan Institute of Oncology, l'Hospitalet del Llobregat, Spain., Velasco À; Hereditary Cancer Program, Catalan Institute of Oncology, Girona Institute for Biomedical Research (IDIBGi), Girona, Spain., Tuset N; Medical Oncology Department, Arnau de Vilanova University Hospital, Lleida, Spain., Varela M; Department of Pathology, Bellvitge University Hospital, Catalan Institute of Oncology, l'Hospitalet del Llobregat, Spain., Llort G; Medical Oncology Department, Parc Taulí University Hospital, Sabadell, Spain., Ramon Y Cajal T; Medical Oncology Department, Santa Creu i Sant Pau Hospital, Barcelona, Spain., Grau È; Hereditary Cancer Program, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), Bellvitge Institute for Biomedical Research (IDIBELL), Catalan Institute of Oncology, l'Hospitalet del Llobregat, Spain; Hereditary Cancer Program, Program for Predictive and Personalized Medicine of Cancer-Germans Trias i Pujol Research Institute (PMPPC-IGTP), Badalona, Spain., Dueñas N; Hereditary Cancer Program, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), Bellvitge Institute for Biomedical Research (IDIBELL), Catalan Institute of Oncology, l'Hospitalet del Llobregat, Spain; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain., de la Ossa Merlano N; Department of Pathology, General University Hospital of Catalonia, QuironSalud Group, Sant Cugat del Vallès, Spain., Matías-Guiu X; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain; Department of Pathology, Bellvitge University Hospital, IDIBELL, University of Barcelona, Barcelona, Spain; Department of Pathology, Arnau de Vilanova University Hospital, Lleida Institute for Biomedical Research (IRBLleida), University of Lleida, Lleida, Spain., Rivera B; Hereditary Cancer Program, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), Bellvitge Institute for Biomedical Research (IDIBELL), Catalan Institute of Oncology, l'Hospitalet del Llobregat, Spain; Gerald Bronfman Department of Oncology, McGill University, Montreal, Quebec, Canada., Balmaña J; Hereditary Cancer Genetics Group, Vall d'Hebron Institute of Oncology (VHIO), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Pineda M; Hereditary Cancer Program, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), Bellvitge Institute for Biomedical Research (IDIBELL), Catalan Institute of Oncology, l'Hospitalet del Llobregat, Spain; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain., Brunet J; Hereditary Cancer Program, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), Bellvitge Institute for Biomedical Research (IDIBELL), Catalan Institute of Oncology, l'Hospitalet del Llobregat, Spain; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain; Hereditary Cancer Program, Catalan Institute of Oncology, Girona Institute for Biomedical Research (IDIBGi), Girona, Spain., Capellá G; Hereditary Cancer Program, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), Bellvitge Institute for Biomedical Research (IDIBELL), Catalan Institute of Oncology, l'Hospitalet del Llobregat, Spain; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain., Del Valle J; Hereditary Cancer Program, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), Bellvitge Institute for Biomedical Research (IDIBELL), Catalan Institute of Oncology, l'Hospitalet del Llobregat, Spain; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain., Lázaro C; Hereditary Cancer Program, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), Bellvitge Institute for Biomedical Research (IDIBELL), Catalan Institute of Oncology, l'Hospitalet del Llobregat, Spain; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain. Electronic address: clazaro@iconcologia.net.

المصدر: The Journal of molecular diagnostics : JMD [J Mol Diagn] 2021 Nov; Vol. 23 (11), pp. 1452-1459. Date of Electronic Publication: 2021 Aug 25.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 100893612 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1943-7811 (Electronic) Linking ISSN: 15251578 NLM ISO Abbreviation: J Mol Diagn Subsets: MEDLINE

مواضيع طبية MeSH: Genes, APC* , Germ-Line Mutation* , Mosaicism*, Adenomatous Polyposis Coli/*genetics , Adenomatous Polyposis Coli Protein/*genetics , Colorectal Neoplasms/*genetics , Genetic Predisposition to Disease/*genetics , Genetic Testing/*methods, Adenomatous Polyposis Coli/pathology ; Adult ; Aged ; Cohort Studies ; Colorectal Neoplasms/pathology ; Female ; High-Throughput Nucleotide Sequencing/methods ; Humans ; Male ; Middle Aged ; Young Adult