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: Lorena Magraner-Pardo, Roman A. Laskowski, Tirso Pons, Janet M. Thornton

المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-17 (2021)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2045-2322Test

الوصول الحر: https://doaj.org/article/b3eee09f8ac742dab50ee895bf220e71Test

المؤلفون: Pasquale Piccolo, Valeria Sabatino, Pratibha Mithbaokar, Elena Polishchuck, Simon K. Law, Lorena Magraner-Pardo, Tirso Pons, Roman Polishchuck, Nicola Brunetti-Pierri

المصدر: Molecular Genetics and Metabolism Reports, Vol 21, Iss , Pp - (2019)

مصطلحات موضوعية: Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426919301375Test; https://doaj.org/toc/2214-4269Test

الوصول الحر: https://doaj.org/article/5181fcc232a4426e85cde61b56cfdecfTest

المؤلفون: Lorena Magraner-Pardo, Dino Gobelli, Miguel A. de la Fuente, Tirso Pons, María Simarro

المصدر: International Journal of Molecular Sciences, Vol 22, Iss 21, p 11337 (2021)

مصطلحات موضوعية: mitochondria, FASTK, cancer, genetic alterations, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/1422-0067/22/21/11337Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test

الوصول الحر: https://doaj.org/article/d55c659c6dd2424b82408f0090063b97Test

المؤلفون: Sara Vicente-Muñoz, Paco Romero, Lorena Magraner-Pardo, Celia P. Martinez-Jimenez, Vicente Tordera, Mercè Pamblanco

المصدر: FEBS Open Bio, Vol 4, Iss C, Pp 996-1006 (2014)

مصطلحات موضوعية: ChIP-on-chip, Chromatin, Histones, Pdp3, TAP–MS strategy, Yeast, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2211546314001077Test; https://doaj.org/toc/2211-5463Test

الوصول الحر: https://doaj.org/article/f7f07b4819644084aae543a6bbb5c56aTest

المؤلفون: Rebeca Sanz-Pamplona, Conxi Lázaro, Tirso Pons, Sandra García-Mulero, Laura Valle, Jesús del Valle, Elsa Ezquerro, Lorena Magraner-Pardo, Pilar Mur, Gabriel Capellá, Victor Moreno, Anna Díez-Villanueva

المصدر: Eur J Hum Genet

مصطلحات موضوعية: Adenoma, Genetics, Exonuclease, POLD1, biology, Cancer, DNA Polymerase II, Brief Communication, medicine.disease, Germline, Frameshift mutation, biology.protein, medicine, Humans, Missense mutation, Proofreading, Colorectal Neoplasms, Poly-ADP-Ribose Binding Proteins, Germ-Line Mutation, Genetics (clinical), Polymerase, DNA Polymerase III

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b0d5a251f1761ac8f98e36c2c02e544Test
https://doi.org/10.1038/s41431-021-00926-6Test

المؤلفون: Elizabeth Harvey-Jones, Maya Raghunandan, Luisa Robbez-Masson, Alaguthurai Thanussuyah, Roberta Liccardo, Arielle Yablonovitch, Mingyang Cai, Leylah Drusbosky, Michael Dorschner, Lorena Magraner Pardo, Rebecca Marlow, Asha Konde, Jennifer Trendell, John Alexander, Syed Haider, Chris Starling, Ioannis Roxanis, Jennifer Yen, Stephen J. Pettitt, Christopher J. Lord, Andrew N. Tutt

المصدر: Cancer Research. 83:6094-6094

مصطلحات موضوعية: Cancer Research, Oncology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c53ea98789a8520482ad96af4b350c7aTest
https://doi.org/10.1158/1538-7445.am2023-6094Test

المؤلفون: Pavel Lipilkin, Cristina Battaglia, Mehmet Fatih ORHAN, Hermina Jakupovic, Tirso Pons, Balkiss Abdelmoula, Rūta Insodaitė, Germán Darío Carrasquilla, Afanasy Fedorov, Paola Riva, Viviana Tritto, Nouha Bouayed Abdelmoula, Lorena Magraner-Pardo, Saina Novgorodova, Malene Revsbech Christiansen, Niels Grarup, Katarzyna Milska-Musa, Željka CelinŠĆak, Torben Hansen

المصدر: Eur J Hum Genet

مصطلحات موضوعية: Abstracts Collection, Genetics, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de372b5582c249558dc14572e5dd2052Test
https://europepmc.org/articles/PMC9063679Test/

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: Jesús Reyes-González, Francisco Barajas-Olmos, Humberto García-Ortiz, Lorena Magraner-Pardo, Tirso Pons, Sergio Moreno, Lucinda Aguirre-Cruz, Andy Reyes-Abrahantes, Angélica Martínez-Hernández, Cecilia Contreras-Cubas, Jorge Barrios-Payan, Henry Ruiz-Garcia, Rogelio Hernandez-Pando, Alfredo Quiñones-Hinojosa, Lorena Orozco, María del Carmen Abrahantes-Pérez

المصدر: Neuro-oncology.

مصطلحات موضوعية: Cancer Research, Oncology, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ce371a2a84368b7bc8880acab5a9b50Test
https://pubmed.ncbi.nlm.nih.gov/35802478Test