المؤلفون: Pilar Mur, Julen Viana-Errasti, Sandra García-Mulero, Lorena Magraner-Pardo, Inés G. Muñoz, Tirso Pons, Gabriel Capellá, Marta Pineda, Lidia Feliubadaló, Laura Valle

المصدر: Genome Medicine, Vol 15, Iss 1, Pp 1-18 (2023)

مصطلحات موضوعية: Polymerase proofreading-associated polyposis, PPAP, Polymerase epsilon, Polymerase delta, Proofreading deficiency, Mutational signatures, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1756-994XTest

الوصول الحر: https://doaj.org/article/0d8eedbedf5a4275aa0193c67a801de8Test

المؤلفون: Mur, Pilar, García-Mulero, Sandra, del Valle, Jesús, Magraner-Pardo, Lorena, Vidal, August, Pineda, Marta, Cinnirella, Giacomo, Martín-Ramos, Edgar, Pons, Tirso, López-Doriga, Adriana, Belhadj, Sami, Feliubadaló, Lidia, Munoz-Torres, Pau M., Navarro, Matilde, Grau, Elia, Darder, Esther, Llort, Gemma, Sanz, Judit, Ramon y Cajal, Teresa, Balmaña Gelpí, Judith, Brunet, Joan, Moreno, Víctor, Piulats, Josep M., Matías-Guiu, Xavier, Sanz-Pamplona, Rebeca, Aligué, Rosa, Capellá, G. (Gabriel), Lázaro, Conxi, Valle, Laura, Universitat Autònoma de Barcelona

مصطلحات موضوعية: Exonuclease domain, Hereditary colorectal cancer, Polymerase proofreading-associated polyposis, PPAP, Ultramutated phenotype

وصف الملف: application/pdf

العلاقة: Ministerio de Economía y Competitividad SAF2015-68016-R; Ministerio de Economía y Competitividad PI16/00563; Ministerio de Economía y Competitividad PI16/00588; Ministerio de Economía y Competitividad PI14/00613; Instituto de Salud Carlos III PI19/00553; Ministerio de Economía y Competitividad CB16/12/00234; Genetics in medicine; Vol. 22 Núm. 12 (december 2020), p. 2089-2100; https://ddd.uab.cat/record/284159Test; urn:10.1038/s41436-020-0922-2; urn:oai:ddd.uab.cat:284159; urn:scopus_id:85089364750; urn:articleid:15300366v22n12p2089; urn:pmid:32792570; urn:pmc-uid:7708298; urn:pmcid:PMC7708298; urn:oai:pubmedcentral.nih.gov:7708298

الإتاحة: https://ddd.uab.cat/record/284159Test

المؤلفون: Pau M. Munoz-Torres, Joan Brunet, Rebeca Sanz-Pamplona, August Vidal, Gemma Llort, Esther Darder, Victor Moreno, Teresa Ramón y Cajal, Laura Valle, Judith Balmaña, Marta Pineda, Tirso Pons, Xavier Matias-Guiu, Jesús del Valle, Lorena Magraner-Pardo, Rosa Aligué, Pilar Mur, Giacomo Cinnirella, Josep M. Piulats, Elia Grau, Lídia Feliubadaló, Sami Belhadj, Adriana Lopez-Doriga, Matilde Navarro, Conxi Lázaro, Sandra García-Mulero, Judit Sanz, Gabriel Capellá, Edgar Martin-Ramos

المساهمون: [Mur P, Del Valle J, Pineda M] Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain. Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Hospitalet de Llobregat, Barcelona, Spain. Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain. [García-Mulero S] Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Hospitalet de Llobregat, Barcelona, Spain. Oncology Data Analytics Program (ODAP), Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain. [Magraner-Pardo L] Prostate Cancer Clinical Research Unit. Spanish National Cancer Research Center (CNIO), Madrid, Spain. [Vidal A] Department of Pathology, Bellvitge University Hospital, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain. [Balmana J] Servei d’Oncologia Mèdica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Ministerio de Economía y Competitividad (España), Instituto de Salud Carlos III, Generalitat de Catalunya, Fundación Olga Torres, European Cooperation in Science and Technology

المصدر: Scientia
Genetics in Medicine
Digital.CSIC. Repositorio Institucional del CSIC
instname
Dipòsit Digital de la UB
Universidad de Barcelona

مصطلحات موضوعية: fenómenos genéticos::variación genética::mutación::mutación de la línea germinal [FENÓMENOS Y PROCESOS], Proband, Polymerase proofreading–associated polyposis, Recte - Càncer - Aspectes genètics, Colorectal cancer, Genetic counseling, Population, Còlon - Càncer - Aspectes genètics, Biology, Article, Genetic Phenomena::Genetic Variation::Mutation::Germ-Line Mutation [PHENOMENA AND PROCESSES], Germline, PPAP, Endometrial cancer, Càncer colorectal, Malalties hereditàries, Ultramutated phenotype, medicine, Humans, Missense mutation, Poly-ADP-Ribose Binding Proteins, education, Allele frequency, Germ-Line Mutation, Genetics (clinical), Exonuclease domain, DNA Polymerase III, Genetics, education.field_of_study, Malalties transmissibles - Teoria germinal, POLD1, ultramutated phenotype, DNA Polymerase II, medicine.disease, polymerase proofreading–associated polyposis, Càncer d'endometri, Neoplasms::Neoplasms::Neoplastic Syndromes, Hereditary::Colorectal Neoplasms, Hereditary Nonpolyposis [DISEASES], Hereditary colorectal cancer, Mutation, hereditary colorectal cancer, neoplasias::neoplasias::síndromes neoplásicos hereditarios::neoplasias colorrectales hereditarias sin poliposis [ENFERMEDADES], exonuclease domain, Colorectal Neoplasms, Genetic diseases

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::359c40a1763da19d13d5833ef08af076Test
https://doi.org/10.1038/s41436-020-0922-2Test

المؤلفون: Kazuo TAMURA, Naohiro TOMITA, 冨田 尚裕, 田村 和朗

المصدر: 日本消化器病学会雑誌 / Nippon Shokakibyo Gakkai Zasshi. 2017, 114(3):403

المؤلفون: Mur, P, Garcia-Mulero, S, del Valle, J, Magraner-Pardo, L, Vidal, A, Pineda, M, Cinnirella, G, Martin-Ramos, E, Pons, T, Lopez-Doriga, A, Belhadj, S, Feliubadalo, L, Munoz-Torres, PM, Navarro, M, Grau, E, Darder, E, Llort, G, Sanz, J, Cajal, TRY, Balmana, J, Brunet, J, Moreno, V, Piulats, JM, Matias-Guiu, X, Sanz-Pamplona, R, Aligue, R, Capella, G, Lazaro, C, Valle, L

المصدر: GENETICS IN MEDICINE
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-IIB SANT PAU: Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)

مصطلحات موضوعية: hereditary colorectal cancer, ultramutated phenotype, exonuclease domain, polymerase proofreading-associated polyposis, PPAP

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::4fa1712ae6eeeeab509890d639f41f37Test
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=1409Test

المؤلفون: Bosman, FT

المصدر: Encyclopedia of Cancer, pp. 428-443

مصطلحات موضوعية: Adenocarcinoma, Adenoma-carcinoma sequence, Chromosomal instability, Colon, Consensus molecular subtype, CpG island methylator phenotype, Familial adenomatous polyposis, Lynch syndrome, MAP syndrome, Microsatellite instability, Peutz-Jeghers syndrome, Polymerase proofreading-associated polyposis, Rectum

العلاقة: info:eu-repo/semantics/altIdentifier/isbn/9780128012383; https://serval.unil.ch/notice/serval:BIB_6BDA362D8FA2Test

الإتاحة: https://doi.org/10.1016/b978-0-12-801238-3.65078-xTest
https://serval.unil.ch/notice/serval:BIB_6BDA362D8FA2Test

المؤلفون: Rainer Nustede, Katharina Wimmer, Ulrich Lehmann, Johannes Zschocke, Andreas Beilken, Tim Ripperger, Laura Valle, Diana Steinmann, Christian P. Kratz, Tanja Reineke-Plaass, Christine Fauth, Benno M. Ure, Britta Lamottke

المصدر: Familial Cancer

مصطلحات موضوعية: Male, 0301 basic medicine, Cancer Research, Pathology, medicine.medical_specialty, Polymerase proofreading-associated polyposis, Skin Neoplasms, Adolescent, DNA repair, Biology, medicine.disease_cause, Germline, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Café-au-lait macule, Neoplastic Syndromes, Hereditary, Genetics, medicine, Humans, Genetics(clinical), Age of Onset, Poly-ADP-Ribose Binding Proteins, Germ-Line Mutation, Genetics (clinical), Mutation, POLD1, Brain Neoplasms, Cafe-au-Lait Spots, Cancer, Microsatellite instability, Pilomatricoma, DNA Polymerase II, Pilomatrixoma, medicine.disease, Colon cancer, 030104 developmental biology, Oncology, 030220 oncology & carcinogenesis, Original Article, Microsatellite Instability, Colorectal Neoplasms, Hair Diseases, Constitutional mismatch repair deficiency

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11d789d867e8fd0398768653a2833827Test
https://doi.org/10.1007/s10689-016-9925-1Test

المؤلفون: Conxi Lázaro, Matilde Navarro, Rafael Valdés-Mas, Ignacio Blanco, Laura Valle, Fernando Bellido, Alfonso Valencia, Sara González, Joan Brunet, Gemma Aiza, José Luis Soto, Tirso Pons, Virginia Piñol, Gabriel Capellá, Diana A. Puente, Silvia Iglesias, Miguel Urioste, Marta Pineda, Xose S. Puente, Esther Darder

المصدر: Genetics in Medicine

مصطلحات موضوعية: Male, 0301 basic medicine, Genotype, Colorectal cancer, Colorectal polyposis, medicine.disease_cause, genetic testing, 03 medical and health sciences, 0302 clinical medicine, Humans, Medicine, Protein Interaction Domains and Motifs, Original Research Article, Poly-ADP-Ribose Binding Proteins, Alleles, Genetic Association Studies, Germ-Line Mutation, Genetics (clinical), DNA Polymerase III, Genetic testing, Genetics, Mutation, Massive parallel sequencing, POLD1, medicine.diagnostic_test, business.industry, High-Throughput Nucleotide Sequencing, DNA Polymerase II, medicine.disease, Phenotype, adenomatous polyposis, Pedigree, 3. Good health, 030104 developmental biology, Adenomatous Polyposis Coli, 030220 oncology & carcinogenesis, Female, Oligodendroglioma, hereditary nonpolyposis colorectal cancer, Colorectal Neoplasms, business, polymerase proofreading-associated polyposis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ddc91bb3d17eacd05fe212327ac2605cTest
https://doi.org/10.1038/gim.2015.75Test

المؤلفون: Bellido F, Pineda M, Aiza G, Valdés-Mas R, Navarro M, Puente DA, Pons T, González S, Iglesias S, Darder E, Piñol V, Soto JL, Valencia A, Blanco I, Urioste M, Brunet J, Lázaro C, Capellá G, Puente XS, Valle L

المصدر: GENETICS IN MEDICINE
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
r-FISABIO. Repositorio Institucional de Producción Científica
instname

مصطلحات موضوعية: hereditary nonpolyposis colorectal cancer, polymerase proofreading-associated polyposis, adenomatous polyposis, genetic testing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1f875031a0a3dc94cf6f6527831a96a7Test
https://fundanet.fisabio.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=3673Test

مصطلحات الفهرس: Polymerase proofreading–associated polyposis, PPAP, Exonuclease domain, Ultramutated phenotype, Hereditary colorectal cancer, artículo

URL: http://hdl.handle.net/10261/229733Test
Publisher’s version
http://dx.doi.org/10.1038/s41436-020-0922-2Test
Sí
info:eu-repo/grantAgreement/MINECO/Plan Estatal de Investigación Científica y Técnica y de Innovación 2013-2016/SAF2016-80888-R
info:eu-repo/grantAgreement/MINECO/Plan Estatal de Investigación Científica y Técnica y de Innovación 2013-2016/SAF2015-68016-R