المؤلفون: Pasciuto, Maria Paola, Felicioni, Lara, Zampacorta, Claudia, Ferro, Benedetta, Di Marino, Pietro, Primavera, Francesca Chiara, Lucidi, Alessandro, Rossetti, Rebecca, Barbareschi, Mattia, Marchetti, Antonio, Buttitta, Fiamma, D'Angelo, Emanuela

المساهمون: Pasciuto, Maria Paola, Felicioni, Lara, Zampacorta, Claudia, Ferro, Benedetta, Di Marino, Pietro, Primavera, Francesca Chiara, Lucidi, Alessandro, Rossetti, Rebecca, Barbareschi, Mattia, Marchetti, Antonio, Buttitta, Fiamma, D'Angelo, Emanuela

مصطلحات موضوعية: POLE, endometrial carcinoma, ultramutated phenotype

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37216304; info:eu-repo/semantics/altIdentifier/wos/WOS:001063841800007; volume:1; issue:1; firstpage:1; lastpage:5; numberofpages:5; journal:PATHOLOGICA; https://hdl.handle.net/11564/806833Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85159839455; https://www.pathologica.it/article/view/872/630Test

الإتاحة: https://doi.org/10.32074/1591-951X-872Test
https://hdl.handle.net/11564/806833Test
https://www.pathologica.it/article/view/872/630Test

المؤلفون: Rosa, Reginaldo, Yurchenko, Andrey, Chahud, Fernando, Ribeiro-Silva, Alfredo, Brunaldi, Mariângela, Silva Jr, Wilson, Kannouche, Patricia, Nikolaev, Sergey, Ferraz, Victor

المساهمون: Université Paris-Saclay, Institut Gustave Roussy (IGR)

المصدر: ISSN: 1415-4757.

مصطلحات موضوعية: Endometrial cancer, POLE exonuclease mutation, Targeted sequencing, TMB, Ultramutated phenotype, [SDV]Life Sciences [q-bio]

العلاقة: hal-03853568; https://hal.science/hal-03853568Test; https://hal.science/hal-03853568/documentTest; https://hal.science/hal-03853568/file/Rosa%20et%20al%20Genetics%20and%20Molecular%20Biology%202020.pdfTest

الإتاحة: https://doi.org/10.1590/1678-4685-gmb-2020-0100Test
https://hal.science/hal-03853568Test
https://hal.science/hal-03853568/documentTest
https://hal.science/hal-03853568/file/Rosa%20et%20al%20Genetics%20and%20Molecular%20Biology%202020.pdfTest

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: Rosa, Reginaldo Cruz Alves, Yurchenko, Andrey A., Chahud, Fernando, Ribeiro-Silva, Alfredo, Brunaldi, Mariângela Ottoboni, Silva Jr, Wilson Araújo, Kannouche, Patricia L., Nikolaev, Sergey, Ferraz, Victor Evangelista de Faria

المصدر: Genetics and Molecular Biology. January 2020 43(4)

مصطلحات موضوعية: Endometrial cancer, POLE exonuclease mutation, Targeted sequencing, TMB, Ultramutated phenotype

وصف الملف: text/html

الوصول الحر: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000600101Test

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: Victor Evangelista de Faria Ferraz, Wilson A. Silva, Sergey Nikolaev, Patricia Kannouche, Mariângela Ottoboni Brunaldi, Fernando Chahud, Reginaldo Cruz Alves Rosa, Andrey A. Yurchenko, Alfredo Ribeiro-Silva

المساهمون: CNRS (UMR9019), Centre National de la Recherche Scientifique (CNRS), Universidade de São Paulo (USP), Biomarqueurs prédictifs et nouvelles stratégies moléculaires en thérapeutique anticancéreuse (U981), Université Paris-Sud - Paris 11 (UP11)-Institut Gustave Roussy (IGR)-Institut National de la Santé et de la Recherche Médicale (INSERM), Intégrité du génome et cancers (IGC), Institut Gustave Roussy (IGR)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), Stabilité Génétique et Oncogenèse (UMR 8200), Université Paris-Sud - Paris 11 (UP11)-Institut Gustave Roussy (IGR)-Centre National de la Recherche Scientifique (CNRS)

المصدر: Genetics and Molecular Biology
Genetics and Molecular Biology, Sociedade Brasileira de Genética, 2020, 43 (4), ⟨10.1590/1678-4685-GMB-2020-0100⟩
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Genetics and Molecular Biology, Volume: 43, Issue: 4, Article number: e20200100, Published: 25 SEP 2020

مصطلحات موضوعية: Mutation rate, Somatic cell, [SDV]Life Sciences [q-bio], Biology, QH426-470, medicine.disease_cause, Germline, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, Endometrial cancer, medicine, Ultramutated phenotype, Genetics, Allele, Molecular Biology, Gene, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, 0303 health sciences, Mutation, TMB, Wild type, CARCINOGÊNESE, 3. Good health, POLE exonuclease mutation, 030220 oncology & carcinogenesis, Targeted sequencing

وصف الملف: text/html

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8847490140b44f3b6847240694e59629Test
https://hal.archives-ouvertes.fr/hal-03457871Test

المؤلفون: Reginaldo Cruz Alves Rosa (10469803), Andrey A. Yurchenko (3173334), Fernando Chahud (10469806), Alfredo Ribeiro-Silva (5761397), Mariângela Ottoboni Brunaldi (10469809), Wilson Araújo Silva Jr (10469812), Patricia L. Kannouche (10469815), Sergey Nikolaev (274006), Victor Evangelista de Faria Ferraz (8302947)

مصطلحات موضوعية: Biochemistry and Cell Biology not elsewhere classified, Genetics not elsewhere classified, Endometrial cancer, POLE exonuclease mutation, Targeted sequencing, TMB, Ultramutated phenotype

العلاقة: https://figshare.com/articles/dataset/First_description_of_ultramutated_endometrial_cancer_caused_by_germline_loss-of-function_and_somatic_exonuclease_domain_mutations_in_POLE_gene/14320483Test

الإتاحة: https://doi.org/10.6084/m9.figshare.14320483.v1Test

المؤلفون: Reginaldo Cruz Alves Rosa, Andrey A. Yurchenko, Fernando Chahud, Alfredo Ribeiro-Silva, Mariângela Ottoboni Brunaldi, Wilson Araújo Silva Jr, Patricia L. Kannouche, Sergey Nikolaev, Victor Evangelista de Faria Ferraz

المصدر: Genetics and Molecular Biology

مصطلحات موضوعية: Endometrial cancer, POLE exonuclease mutation, Targeted sequencing, TMB, Ultramutated phenotype, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://www.scielo.br/pdf/gmb/v43n4/1415-4757-GMB-43-4-e20200100.pdfTest; http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000600101&tlng=enTest; https://doaj.org/toc/1678-4685Test

الوصول الحر: https://doaj.org/article/428b2d86ee624fcf94b8e4eead1d0e21Test

المؤلفون: Reginaldo Cruz Alves Rosa, Andrey A. Yurchenko, Fernando Chahud, Alfredo Ribeiro-Silva, Mariângela Ottoboni Brunaldi, Wilson Araújo Silva Jr, Patricia L. Kannouche, Sergey Nikolaev, Victor Evangelista de Faria Ferraz

المصدر: Genetics and Molecular Biology

مصطلحات موضوعية: Endometrial cancer, POLE exonuclease mutation, Targeted sequencing, TMB, Ultramutated phenotype, Genetics, QH426-470

العلاقة: http://www.scielo.br/pdf/gmb/v43n4/1415-4757-GMB-43-4-e20200100.pdfTest; http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000600101&tlng=enTest; https://doaj.org/toc/1678-4685Test; https://doaj.org/article/428b2d86ee624fcf94b8e4eead1d0e21Test

الإتاحة: https://doi.org/10.1590/1678-4685-gmb-2020-0100Test
https://doaj.org/article/428b2d86ee624fcf94b8e4eead1d0e21Test