المؤلفون: Mattimoe, Tom

المساهمون: University/Department: Universitat Pompeu Fabra. Departament de Medicina i Ciències de la Vida

Thesis Advisors: Payer, Bernhard

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Stem cells, Germline, X chromosome, Meiosis, Methylation, Células madre, Línea germinal, Cromosoma X, Metilación

وصف الملف: application/pdf

URL الوصول: http://hdl.handle.net/10803/692844

المؤلفون: Severino, Jacqueline

المساهمون: University/Department: Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut

Thesis Advisors: Payer, Bernhard

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Germline, X chromosome reactivation, Meiosis, Epigenetic reprogramming, Células madre, Línea germinal, Reactivación del cromosoma X, Reprogramación epigenética

وصف الملف: application/pdf

URL الوصول: http://hdl.handle.net/10803/671536

المؤلفون: Santaló Pedro, Josep

المصدر: Revista de bioética y derecho; 2017: Núm.: 40; p. 157-166

مصطلحات موضوعية: CRISPR, gene modification, germ line, gene therapy, genetic enhancement., modificación genética, línea germinal, terapia génica, mejora genética.

وصف الملف: text/html

Relation: https://www.raco.cat/index.php/RevistaBioeticaDerecho/article/view/325163/415789

URL الوصول: https://www.raco.cat/index.php/RevistaBioeticaDerecho/article/view/325163

المؤلفون: González, Sara, Munté, Elisabet, Feliubadaló, Lidia, del Valle, Jesús, Ramos-Muntada, Mireia, Balmaña, Judith

المساهمون: Institut Català de la Salut, Munté E Hereditary Cancer Program, Catalan Institute of Oncology, L'Hospitalet de Llobregat, Spain. Hereditary Cancer Group, Molecular Mechanisms and Experimental Therapy in Oncology Program, Institut d’Investigació Biomèdica de Bellvitge, L'Hospitalet de Llobregat, Spain. Feliubadaló L, Del Valle J Hereditary Cancer Program, Catalan Institute of Oncology, L'Hospitalet de Llobregat, Spain. Hereditary Cancer Group, Molecular Mechanisms and Experimental Therapy in Oncology Program, Institut d’Investigació Biomèdica de Bellvitge, L'Hospitalet de Llobregat, Spain. Ciber Oncología, Instituto Salud Carlos III, Madrid, Spain. González S Hereditary Cancer Program, Catalan Institute of Oncology, L'Hospitalet de Llobregat, Spain. Hereditary Cancer Group, Molecular Mechanisms and Experimental Therapy in Oncology Program, Institut d’Investigació Biomèdica de Bellvitge, L'Hospitalet de Llobregat, Spain. Ramos-Muntada M Hereditary Cancer Group, Molecular Mechanisms and Experimental Therapy in Oncology Program, Institut d’Investigació Biomèdica de Bellvitge, L'Hospitalet de Llobregat, Spain. Ciber Oncología, Instituto Salud Carlos III, Madrid, Spain. Balmaña J High Risk and Cancer Prevention Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Servei d’Oncologia Mèdica, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientia

مصطلحات موضوعية: Càncer - Aspectes genètics, Càncer - Diagnòstic, Cromosomes humans - Anomalies - Diagnòstic, Bioinformàtica, DISEASES::Neoplasms, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Diagnostic Techniques and Procedures::Clinical Laboratory Techniques::Genetic Testing, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation::Germ-Line Mutation, INFORMATION SCIENCE::Information Science::Informatics::Computational Biology, ENFERMEDADES::neoplasias, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::técnicas y procedimientos diagnósticos::técnicas de laboratorio clínico::pruebas genéticas, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación::mutación de la línea germinal, CIENCIA DE LA INFORMACIÓN::Ciencias de la información::informática::biología computacional

وصف الملف: application/pdf

Relation: The Journal of Molecular Diagnostics;26(8); https://doi.org/10.1016/j.jmoldx.2024.05.005; Munté E, Feliubadaló L, Del Valle J, González S, Ramos-Muntada M, Balmaña J, et al. Open-source bioinformatic pipeline to improve PMS2 genetic testing using short-read NGS data. J Mol Diagnostics. 2024 Aug;26(8):727–38.; https://hdl.handle.net/11351/11852; 001279922100001

الاتاحة: https://hdl.handle.net/11351/11852
https://doi.org/10.1016/j.jmoldx.2024.05.005

المؤلفون: Marín Nieto, Fátima, Canet-Hermida, Júlia, Bianchi, Vanessa, Chung, Jiil, Wimmer, Katharina, Foulkes, William, Sabado, Constantino, Carrasco Lopez, Estela

المساهمون: Institut Català de la Salut, Marín F, Canet-Hermida J Hereditary Cancer Group, Molecular Mechanisms and Experimental Therapy in Oncology Program, Institut d’Investigació Biomèdica de Bellvitge (IDIBELL), L’Hospitalet de Llobregat, Barcelona, Spain. CIBER Oncología (CIBERONC), Instituto Salud Carlos III, Madrid, Spain. Bianchi V, Chung J The Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, ON, Canada. Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada. Wimmer K Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria. Foulkes W Cancer Axis, Lady Davis Institute, Jewish General Hospital, Montreal, QC, Canada. Cancer Research Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada. Sábado C Servei d'Hematologia i Oncologia Pediàtriques, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Carrasco E Hereditary Cancer Genetics Group, Medical Oncology Department, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientia

مصطلحات موضوعية: Anomalies cromosòmiques, Càncer - Aspectes genètics, ADN - Reparació, Satèl·lits (Genètica), DISEASES::Neoplasms, Other subheadings::Other subheadings::Other subheadings::/genetics, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation::Genomic Instability::Genetic Phenomena::Microsatellite Instability, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation::Germ-Line Mutation, PHENOMENA AND PROCESSES::Chemical Phenomena::Biochemical Phenomena::DNA Repair::DNA Mismatch Repair, ENFERMEDADES::neoplasias, Otros calificadores::Otros calificadores::Otros calificadores::/genética, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación::inestabilidad genómica::fenómenos genéticos::inestabilidad de microsatélites, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación::mutación de la línea germinal, FENÓMENOS Y PROCESOS::fenómenos químicos::fenómenos bioquímicos::reparación del ADN::reparación del emparejamiento incorrecto del ADN

وصف الملف: application/pdf

Relation: Clinical Chemistry;70(5); https://doi.org/10.1093/clinchem/hvae027; Marín F, Canet-Hermida J, Bianchi V, Chung J, Wimmer K, Foulkes W, et al. A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency. Clin Chem. 2024 May 2;70(5):737–746.; https://hdl.handle.net/11351/11478; 001191048600001

الاتاحة: https://hdl.handle.net/11351/11478
https://doi.org/10.1093/clinchem/hvae027

المؤلفون: Romey, Marcel, Llort, Gemma, Torres-Esquius, Sara, Llop-Guevara, Alba, Gutiérrez-Enríquez, Sara, Teule, Alex, Serra, Violeta, Balmaña, Judith

المساهمون: Institut Català de la Salut, Torres-Esquius S, Gutiérrez-Enríquez S Hereditary Cancer Genetics Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Llop-Guevara A Experimental Therapeutics Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Translational Medicine, DNA Damage Response Department, AstraZeneca, Barcelona, Spain. Romey M Institute of Pathology, Universitätsklinikum Marburg, Marburg, Germany. Teulé À Hereditary Cancer Program, Catalan Institute of Oncology, Bellvitge Biomedical Research Institute (IDIBELL), Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain. Llort G Department of Medical Oncology, Hospital Universitari Parc Taulí, Sabadell, Spain. Serra V Experimental Therapeutics Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. 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, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientia

مصطلحات موضوعية: Mama - Càncer - Aspectes genètics, Ovaris - Càncer - Aspectes genètics, Recombinació genètica, Anomalies cromosòmiques, DISEASES::Neoplasms::Neoplasms by Site::Endocrine Gland Neoplasms::Ovarian Neoplasms, DISEASES::Neoplasms::Neoplasms by Site::Breast Neoplasms, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation::Germ-Line Mutation, PHENOMENA AND PROCESSES::Genetic Phenomena::Recombination, Genetic::Homologous Recombination, ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias de las glándulas endocrinas::neoplasias ováricas, ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias de la mama, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación::mutación de la línea germinal, FENÓMENOS Y PROCESOS::fenómenos genéticos::recombinación genética::recombinación homóloga

وصف الملف: application/pdf

Relation: JAMA Network Open;7(4); https://doi.org/10.1001/jamanetworkopen.2024.7811; info:eu-repo/grantAgreement/ES/PE2017-2020/PI19%2F01303; info:eu-repo/grantAgreement/ES/PEICTI2021-2023/PI22%2F01200; Torres-Esquius S, Llop-Guevara A, Gutiérrez-Enríquez S, Romey M, Teulé À, Llort G, et al. Prevalence of Homologous Recombination Deficiency Among Patients With Germline RAD51C/D Breast or Ovarian Cancer. JAMA Netw Open. 2024 Apr 1;7(4):e247811.; https://hdl.handle.net/11351/11391

الاتاحة: https://hdl.handle.net/11351/11391
https://doi.org/10.1001/jamanetworkopen.2024.7811

المؤلفون: Rofes, Paula, Duenas Cid, Nuria, del Valle, Jesús, Navarro, Matilde, Balmaña, Judith, Ramon y Cajal, Teresa

المساهمون: Institut Català de la Salut, Rofes P, Dueñas N, del Valle J Hereditary Cancer Program, Catalan Institute of Oncology, Molecular Mechanisms and Experimental Therapy in Oncology Program, Institut d'Investigació Biomèdica de Bellvitge – IDIBELL, L'Hospitalet de Llobregat, Spain. Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain. Navarro M Hereditary Cancer Program, Catalan Institute of Oncology, Molecular Mechanisms and Experimental Therapy in Oncology Program, Institut d'Investigació Biomèdica de Bellvitge – IDIBELL, L'Hospitalet de Llobregat, Spain. Balmaña J Hereditary Cancer Genetics Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. Ramón y Caja T Medical Oncology Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientia

مصطلحات موضوعية: Càncer - Aspectes genètics, Malalties congènites, Anomalies cromosòmiques, DISEASES::Neoplasms, DISEASES::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Neoplastic Syndromes, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation::Germ-Line Mutation, ENFERMEDADES::neoplasias, ENFERMEDADES::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::síndromes neoplásicos hereditarios, Mutacion Linea Germinal

وصف الملف: application/pdf

Relation: Cancer Medicine;13(7); https://doi.org/10.1002/cam4.7041; Rofes P, Dueñas N, del Valle J, Navarro M, Balmaña J, Ramón y Cajal T, et al. Tumor analysis of MMR genes in Lynch-like syndrome: Challenges associated with results interpretation. Cancer Med. 2024 Apr 1;13(7):e7041.; https://hdl.handle.net/11351/11300; 001194464900001

الاتاحة: https://hdl.handle.net/11351/11300
https://doi.org/10.1002/cam4.7041

المؤلفون: Olea, Gabriela Beatriz

مصطلحات موضوعية: Caderina n, Oct-4, Células de la línea germinal, Columbidae

وصف الملف: application/pdf; p.1-1

Relation: UNNE/Cofinanciadas Pos-doctorales/16I005/AR. Corrientes/Determinantes Moleculares de Progresión Neoplasica en el Carcinomal Renal Relacionados con la Hipoxia y la Heterogeneidad Intratumoral.; http://repositorio.unne.edu.ar/handle/123456789/52269

الاتاحة: http://repositorio.unne.edu.ar/handle/123456789/52269

المؤلفون: Sanchez-Heras, Ana Beatriz, Pineda, Marta, AGUIRRE, ELENA, Graña, Begoña, Chirivella, Isabel, Ramon y Cajal, Teresa, Balmaña, Judith

المساهمون: Institut Català de la Salut, Sánchez-Heras AB Medical Oncology Department, Hospital General Universitario de Elche, Elche, Alicante, Spain. Ramon Y Cajal T Medical Oncology Service, Hospital Sant Pau, Barcelona, Spain. Pineda M Hereditary Cancer Program, Catalan Institute of Oncology, Institut d’Investigació Biomèdica de Bellvitge (IDIBELL), ONCOBELL Program, L’Hospitalet de Llobregat, Barcelona, Spain. Consortium for Biomedical Research in Cancer, CIBERONC, Carlos III Institute of Health, Madrid, Spain. Aguirre E Medical Oncology Department, Hospital Quironsalud, Zaragoza, Spain. Graña B Medical Oncology Department, University Hospital A Coruña, A Coruña, Spain. Chirivella I Medical Oncology Department, INCLIVA Biomedical Research Institute, University of Valencia, Valencia, Spain. Balmaña J Servei d’Oncologia Mèdica, 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: Scientia

مصطلحات موضوعية: Anomalies cromosòmiques, Malalties congènites, Càncer - Aspectes genètics, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation::Germ-Line Mutation, PHENOMENA AND PROCESSES::Genetic Phenomena::Genotype::Genetic Predisposition to Disease, DISEASES::Neoplasms::Neoplastic Syndromes, Hereditary::Li-Fraumeni Syndrome, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación::mutación de la línea germinal, FENÓMENOS Y PROCESOS::fenómenos genéticos::genotipo::predisposición genética a la enfermedad, ENFERMEDADES::neoplasias::síndromes neoplásicos hereditarios::síndrome de Li-Fraumeni

وصف الملف: application/pdf

Relation: Clinical and Translational Oncology;25; https://doi.org/10.1007/s12094-023-03202-9; Sánchez-Heras AB, Ramon y Cajal T, Pineda M, Aguirre E, Graña B, Chirivella I, et al. SEOM clinical guideline on heritable TP53-related cancer syndrome (2022). Clin Transl Oncol. 2023 Sep;25:2627–33.; https://hdl.handle.net/11351/10231; 000980817100002

الاتاحة: https://hdl.handle.net/11351/10231
https://doi.org/10.1007/s12094-023-03202-9

المؤلفون: Petrelli, Annalisa, rizzolio, sabrina, Pietrantonio, Filippo, bellomo, sara erika, Benelli, Matteo, de cecco, loris, Llop-Guevara, Alba, Serra, Violeta

المساهمون: Institut Català de la Salut, Petrelli A, Rizzolio S Candiolo Cancer Institute, FPO-IRCCS, Candiolo, Italy. Pietrantonio F Medical Oncology Department, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy. Bellomo SE Candiolo Cancer Institute, FPO-IRCCS, Candiolo, Italy. Department of Oncology, University of Torino, Candiolo, Italy. Benelli M Bioinformatics Unit, Oncology Department, Nuovo Ospedale-Santo Stefano, Prato, Italy. De Cecco L Molecular Mechanisms Unit, Department of Research, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy. Serra V, Llop-Guevara A Experimental Therapeutics Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientia

مصطلحات موضوعية: Medicaments antineoplàstics - Ús terapèutic, Anomalies cromosòmiques, Estómac - Càncer - Tractament, Estómac - Càncer - Aspectes genètics, CHEMICALS AND DRUGS::Chemical Actions and Uses::Pharmacologic Actions::Therapeutic Uses::Antineoplastic Agents, Other subheadings::Other subheadings::/therapeutic use, DISEASES::Neoplasms::Neoplasms by Site::Digestive System Neoplasms::Gastrointestinal Neoplasms::Stomach Neoplasms, Other subheadings::Other subheadings::Other subheadings::/drug therapy, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation::Germ-Line Mutation, COMPUESTOS QUÍMICOS Y DROGAS::acciones y usos químicos::acciones farmacológicas::usos terapéuticos::antineoplásicos, Otros calificadores::Otros calificadores::/uso terapéutico, ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias del sistema digestivo::neoplasias gastrointestinales::neoplasias gástricas, Otros calificadores::Otros calificadores::Otros calificadores::/farmacoterapia, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación::mutación de la línea germinal

وصف الملف: application/pdf

Relation: Cancer Research;83(10); https://doi.org/10.1158/0008-5472.CAN-22-2620; Petrelli A, Rizzolio S, Pietrantonio F, Bellomo SE, Benelli M, De Cecco L, et al. BRCA2 Germline Mutations Identify Gastric Cancers Responsive to PARP Inhibitors. Cancer Res. 2023 May 15;83(10):1699–710.; https://hdl.handle.net/11351/9968; 000996399300001

الاتاحة: https://hdl.handle.net/11351/9968
https://doi.org/10.1158/0008-5472.CAN-22-2620

المؤلفون: Grochot, Rafael, Carreira, Suzanne, Miranda, Susana, Figueiredo, Ines, Bertan, Claudia, Rekowski, Jan, Mateo, Joaquin

المساهمون: Institut Català de la Salut, Grochot R The Institute of Cancer Research (ICR), London, UK. Royal Marsden NHS Foundation Trust (RMH), London, UK. Carreira S, Miranda S, Figueiredo I, Bertan C, Rekowski J The Institute of Cancer Research (ICR), London, UK. Mateo J Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientia

مصطلحات موضوعية: Pròstata - Càncer - Aspectes genètics, Anomalies cromosòmiques, Seqüència de nucleòtids, DISEASES::Neoplasms::Neoplasms by Site::Urogenital Neoplasms::Genital Neoplasms, Male::Prostatic Neoplasms, Other subheadings::Other subheadings::Other subheadings::/genetics, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation::Germ-Line Mutation, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Investigative Techniques::Genetic Techniques::Sequence Analysis::Sequence Analysis, DNA, ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias urogenitales::neoplasias de los genitales masculinos::neoplasias de la próstata, Otros calificadores::Otros calificadores::Otros calificadores::/genética, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación::mutación de la línea germinal, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::técnicas de investigación::técnicas genéticas::análisis de secuencias::análisis de secuencias de ADN

وصف الملف: application/pdf

Relation: European Urology Open Science;52; https://doi.org/10.1016/j.euros.2023.04.003; Grochot R, Carreira S, Miranda S, Figueiredo I, Bertan C, Rekowski J, et al. Germline ATM Mutations Detected by Somatic DNA Sequencing in Lethal Prostate Cancer. Eur Urol Open Sci. 2023 Jun;52:72–8.; https://hdl.handle.net/11351/9738

الاتاحة: https://hdl.handle.net/11351/9738
https://doi.org/10.1016/j.euros.2023.04.003

المؤلفون: Kuzbari, Z., Bandlamudi, Chaitanya, Loveday, Chey, Garrett, A., Mehine, Miika, George, A., Mateo, Joaquin

المساهمون: Institut Català de la Salut, Kuzbari Z, Loveday C, Garrett A Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK. Bandlamudi C, Mehine M Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, USA. George A Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK. The Royal Marsden NHS Foundation Trust, London, UK. Mateo J Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientia

مصطلحات موضوعية: Càncer - Aspectes genètics, Medicina personalitzada, Anomalies cromosòmiques, DISEASES::Neoplasms, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation::Germ-Line Mutation, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Therapeutics::Precision Medicine, ENFERMEDADES::neoplasias, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación::mutación de la línea germinal, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::medicina de precisión

وصف الملف: application/pdf

Relation: Annals of Oncology;34(3); https://doi.org/10.1016/j.annonc.2022.12.003; Kuzbari Z, Bandlamudi C, Loveday C, Garrett A, Mehine M, George A, et al. Germline-focused analysis of tumour-detected variants in 49,264 cancer patients: ESMO Precision Medicine Working Group recommendations. Ann Oncol. 2023 Mar;34(3):215–27.; https://hdl.handle.net/11351/9499; 000944412400001

الاتاحة: https://hdl.handle.net/11351/9499
https://doi.org/10.1016/j.annonc.2022.12.003

Thesis Advisors: Soto, José Luis, Alenda, Cristina, Universidad de Alicante. Departamento de Fisiología, Genética y Microbiología

مصطلحات موضوعية: Síndrome de Lynch, Cáncer de endometrio, Cribado Síndrome de Lynch, Inestabilidad de Microsatélite, Mutaciones en línea germinal, Biología Celular

URL الوصول: http://hdl.handle.net/10045/72756

المؤلفون: Martí Gutiérrez, Nuria

Thesis Advisors: Peris Sanchis, Maria Rosa, Departament de Bioquímica i Biologia Molecular

مصطلحات موضوعية: reemplazo, mitocondrial, heteroplasmia, línea germinal, placa metafásica, transferencia, UNESCO::CIENCIAS MÉDICAS

URL الوصول: http://hdl.handle.net/10550/49544

المؤلفون: Martí Gutiérrez, Nuria

Thesis Advisors: Peris Sanchis, Maria Rosa, Departament de Bioquímica i Biologia Molecular

مصطلحات موضوعية: reemplazo, mitocondrial, heteroplasmia, línea germinal, placa metafásica, transferencia, UNESCO::CIENCIAS MÉDICAS

URL الوصول: http://hdl.handle.net/10803/570288

المؤلفون: Martí Gutiérrez, Nuria

Thesis Advisors: Peris Sanchis, Maria Rosa, Departament de Bioquímica i Biologia Molecular

مصطلحات موضوعية: reemplazo, mitocondrial, heteroplasmia, línea germinal, placa metafásica, transferencia, UNESCO::CIENCIAS MÉDICAS

URL الوصول: http://hdl.handle.net/10550/49544

المؤلفون: Florencia Luna

المصدر: Revista de Bioética y Derecho, Vol 47, Pp 43-54 (2019)

مصطلحات موضوعية: edición genética, responsabilidad, investigación en línea germinal, sistema público de salud, Jurisprudence. Philosophy and theory of law, K201-487, Medical philosophy. Medical ethics, R723-726

وصف الملف: electronic resource

Relation: http://revistes.ub.edu/index.php/RBD/article/view/28604; https://doaj.org/toc/2545-6385; https://doaj.org/toc/1886-5887

URL الوصول: https://doaj.org/article/33824b1ff68d4cf19c608477b2d73dea

المؤلفون: Díaz Amado, Eduardo, González Angulo, Ana María

المصدر: Universitas Medica; Vol. 62 No. 4 (2021) ; Universitas Medica; Vol. 62 Núm. 4 (2021) ; 2011-0839 ; 0041-9095

مصطلحات موضوعية: CRISPR-Cas9, línea germinal humana, limitaciones técnicas, implicaciones éticas, actividad regulatoria

وصف الملف: application/pdf; text/xml

Relation: https://revistas.javeriana.edu.co/index.php/vnimedica/article/view/32843/26246; https://revistas.javeriana.edu.co/index.php/vnimedica/article/view/32843/26247; https://revistas.javeriana.edu.co/index.php/vnimedica/article/view/32843

الاتاحة: https://revistas.javeriana.edu.co/index.php/vnimedica/article/view/32843
https://doi.org/10.11144/Javeriana.umed62-4.derc

المؤلفون: Hall,Robert T., Medina Arellano,María de Jesús

المصدر: Problema anuario de filosofía y teoría del derecho n.15 2021

مصطلحات موضوعية: Edición genética, investigación en la línea germinal, moratoria, consenso, opinión pública

وصف الملف: text/html

الاتاحة: http://www.scielo.org.mx/scielo.php?script=sci_arttext&pid=S2007-43872021000100485

المؤلفون: Montealegre Páez, Ana Lorena

المساهمون: Castro Rojas, Carlos, Arteaga Díaz, Clara Eugenia, Montealegre Páez, Ana Lorena 0000000155716987, Montealegre Páez, Ana Lorena rh=0000072597

مصطلحات موضوعية: 610 - Medicina y salud::616 - Enfermedades, 610 - Medicina y salud::614 - Medicina Forense, incidencia de lesiones, heridas, enfermedades, medicina preventiva pública, Neoplasias de la Mama, Síndrome de Cáncer de Mama y Ovario Hereditario, Factores Inmunológicos, Perfil Genético, Indicadores de Salud, Breast Neoplasms, Hereditary Breast and Ovarian Cancer Syndrome, Immunologic Factors, Genetic Profile, Health Status Indicators, Factores de riesgo, Mutación de Línea Germinal, Medidas de asociación, Exposición, Riesgo o Desenlace, Risk Factors, Germ-Line Mutation, Measures of Association, Exposure, Risk or Outcome

جغرافية الموضوع: Colombia

وصف الملف: 78 páginas; application/pdf

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