المؤلفون: Anna Abulí, Antoni Castells, Luis Bujanda, Juan José Lozano, Xavier Bessa, Cristina Hernández, Cristina Álvarez-Urturi, Maria Pellisé, Clara Esteban-Jurado, Elizabeth Hijona, Andrea Burón, Francesc Macià, Jaume Grau, Rafael Guayta, Sergi Castellví-Bel, Montserrat Andreu, PROCOLON research group

المصدر: PLoS ONE, Vol 11, Iss 4, p e0153084 (2016)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4831735?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/31f74295138046c88a01528f00aae889

المؤلفون: Anna Abulí, Luis Bujanda, Jenifer Muñoz, Stephan Buch, Clemens Schafmayer, Maria Valeria Maiorana, Silvia Veneroni, Tom van Wezel, Tao Liu, Helga Westers, Clara Esteban-Jurado, Teresa Ocaña, Josep M Piqué, Montserrat Andreu, Rodrigo Jover, Angel Carracedo, Rosa M Xicola, Xavier Llor, Antoni Castells, EPICOLON Consortium, Malcolm Dunlop, Robert Hofstra, Annika Lindblom, Juul Wijnen, Paolo Peterlongo, Jochen Hampe, Clara Ruiz-Ponte, Sergi Castellví-Bel

المصدر: PLoS ONE, Vol 9, Iss 4, p e95022 (2014)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3990597?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/346b83e22aca4a92b69ec2e743525b29

المؤلفون: Marc Vila Cuenca, Giacomo Marchi, Anna Barqué, Clara Esteban-Jurado, Alessandro Marchetto, Alejandro Giorgetti, Viorica Chelban, Henry Houlden, Nicholas W Wood, Chiara Piubelli, Marina Dorigatti Borges, Dulcinéia Martins de Albuquerque, Kleber Yotsumoto Fertrin, Ester Jové-Buxeda, Jordi Sanchez-Delgado, Neus Baena-Díez, Birute Burnyte, Algirdas Utkus, Fabiana Busti, Gintaras Kaubrys, Eda Suku, Kamil Kowalczyk, Bartosz Karaszewski, John B. Porter, Sally Pollard, Perla Eleftheriou, Patricia Bignell, Domenico Girelli, Mayka Sanchez

المصدر: International Journal of Molecular Sciences; Volume 21; Issue 7; Pages: 2374

مصطلحات موضوعية: aceruloplasminemia, ceruloplasmin, iron metabolism, neurodegenerative disease, anemia, ferritin

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Biology; https://dx.doi.org/10.3390/ijms21072374

الاتاحة: https://doi.org/10.3390/ijms21072374

المؤلفون: Trinidad Caldés, Sergi Castellví-Bel, Miguel de la Hoya, Clara Esteban-Jurado, María Luisa González-Morales, Vanesa García-Barberan, Inmaculada Bando, Patricia Llovet, Marta Cazorla, Víctor Lorca, Pilar Garre, Lorena Martín-Morales

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c5c9c218591706a6daab9206f48b5db
https://doi.org/10.1158/1940-6207.22533688

المؤلفون: Marcos Díaz-Gay, Sebastià Franch-Expósito, Coral Arnau-Collell, Solip Park, Fran Supek, Jenifer Muñoz, Laia Bonjoch, Anna Gratacós-Mulleras, Paula Sánchez-Rojas, Clara Esteban-Jurado, Teresa Ocaña, Miriam Cuatrecasas, Maria Vila-Casadesús, Juan Lozano, Genis Parra, Steve Laurie, Sergi Beltran, EPICOLON Consortium, Antoni Castells, Luis Bujanda, Joaquín Cubiella, Francesc Balaguer, Sergi Castellví-Bel

المصدر: Cancers; Volume 11; Issue 3; Pages: 362

مصطلحات موضوعية: colorectal cancer, whole-exome sequencing, predisposition to disease, germline–tumor analysis, mutational signatures, computational genomics

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/cancers11030362

الاتاحة: https://doi.org/10.3390/cancers11030362

المؤلفون: Patricia Llovet, Vanesa García-Barberán, Víctor Lorca, Maria Luisa Gonzalez-Morales, Marta Cazorla, Lorena Martín-Morales, Clara Esteban-Jurado, Pilar Garre, Inmaculada Bando, Trinidad Caldés, Sergi Castellví-Bel, Miguel de la Hoya

المصدر: Cancer Prevention Research. 14:185-194

مصطلحات موضوعية: 0301 basic medicine, Oncology, Cancer Research, medicine.medical_specialty, Familial Colorectal Cancer Type X, Colorectal cancer, business.industry, Genetic counseling, BRIP1, Disease, Molecular diagnostics, medicine.disease, Frameshift mutation, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, 030220 oncology & carcinogenesis, Internal medicine, medicine, business, Ovarian cancer

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0c4221f67cf3f0a4fb45a48c98749955
https://doi.org/10.1158/1940-6207.capr-20-0316

المؤلفون: Steven Laurie, Maria Vila-Casadesús, Antoni Castells, Teresa Ocaña, Joaquín Cubiella, Clara Esteban-Jurado, Jordi Camps, Saray Duran-Sanchon, Jenifer Muñoz, Trinidad Caldés, Juan José Lozano, Sergi Beltran, Laia Bonjoch, Sergi Castellví-Bel, Pilar Garre, Isabel Quintanilla, Sophia Derdak, Francesc Balaguer, Marcos Díaz-Gay, María López-Cerón, Esther Samper, Luis Bujanda, Miriam Cuatrecasas, Sebastià Franch-Expósito, Sabela Carballal, Meritxell Gironella, Jaime J. Carvajal, Clara Ruiz-Ponte

المساهمون: Instituto de Salud Carlos III, Ministerio de Economía y Competitividad (España), Fundación Científica Asociación Española Contra el Cáncer, European Commission, Generalitat de Catalunya, Asociación Española de Gastroenterología

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instname

مصطلحات موضوعية: 0301 basic medicine, DNA Copy Number Variations, Colorectal cancer, MathematicsofComputing_GENERAL, TheoryofComputation_GENERAL, High-Throughput Nucleotide Sequencing, Computational biology, Biology, medicine.disease, Germline, 03 medical and health sciences, Germ Cells, 030104 developmental biology, 0302 clinical medicine, 030220 oncology & carcinogenesis, Exome Sequencing, Genetics, medicine, Humans, Exome, Genetic Predisposition to Disease, Copy-number variation, Colorectal Neoplasms, Molecular Biology, Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3cd8e6f5dbaa7bb92a814715b9b506c
https://doi.org/10.1016/j.jgg.2017.12.001

المؤلفون: Clara Esteban-Jurado, Sebastià Franch-Expósito, Clara Ruiz-Ponte, Sergi Castellví-Bel, Maria Marti-Solano, Sabela Carballal, Joaquín Cubiella, David Giménez-Zaragoza, Teresa Ocaña, Gemma Llort, Jenifer Muñoz, Rosa Aligué, María López-Cerón, Francesc Balaguer, Tom van Wezel, Luis Bujanda, Miriam Cuatrecasas, Judith Balmaña, Victoria Gonzalo, Antoni Castells, Miriam Alvarez-Barona, Marcos Díaz-Gay

المصدر: Oncotarget, 8(16), 26732-26743
Oncotarget

مصطلحات موضوعية: Male, Models, Molecular, 0301 basic medicine, Protein Conformation, Colorectal cancer, 0302 clinical medicine, Medicine, Age of Onset, Multiple Polyps, Child, Poly-ADP-Ribose Binding Proteins, Early onset, Aged, 80 and over, colorectal adenoma, Middle Aged, University hospital, Pedigree, Adenomatous Polyposis Coli, Oncology, Child, Preschool, 030220 oncology & carcinogenesis, POLE, Female, Colorectal Neoplasms, Research Paper, Adult, medicine.medical_specialty, Adolescent, Colorectal adenoma, POLD1, Young Adult, 03 medical and health sciences, Protein Domains, Humans, Genetic Testing, Alleles, Genetic Association Studies, Aged, DNA Polymerase III, genetic predisposition to disease, Gynecology, Cancer prevention, business.industry, Infant, Newborn, Infant, DNA Polymerase II, medicine.disease, 030104 developmental biology, Amino Acid Substitution, Colorectal neoplasm, Mutation, colorectal neoplasm, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a54d0fa51aefda75a506184ab052c83
https://doi.org/10.18632/oncotarget.15810

المؤلفون: Anna Gratacós-Mulleras, Cristina Herrera-Pariente, Gabriel Capellá, Miriam Cuatrecasas, Jenifer Muñoz, Giulia Raimondi, Trinidad Caldés, Sebastià Franch-Expósito, Clara Esteban-Jurado, Sami Belhadj, Laia Bonjoch, Sergi Castellví-Bel, Francesc Balaguer, Marcos Díaz-Gay, Yasmin Soares de Lima, Laura Valle, Cristina Fillat, Pilar Garre, Antoni Castells, Teresa Ocaña, Coral Arnau-Collell

المصدر: Gastroenterology
Dipòsit Digital de la UB
Universidad de Barcelona

مصطلحات موضوعية: 0301 basic medicine, Male, Cell death, Colorectal cancer, DNA Mutational Analysis, Single-nucleotide polymorphism, Apoptosis, Biology, Germline, law.invention, 03 medical and health sciences, Gene Knockout Techniques, 0302 clinical medicine, Germline mutation, law, Neoplastic Syndromes, Hereditary, Càncer colorectal, Cell Line, Tumor, Exome Sequencing, medicine, Missense mutation, Humans, Genetic Predisposition to Disease, Gene, Wnt Signaling Pathway, Polymerase chain reaction, Germ-Line Mutation, beta Catenin, Adaptor Proteins, Signal Transducing, Aged, Genetics, Hepatology, Gastroenterology, NF-kappa B, Genomics, Middle Aged, medicine.disease, 3. Good health, Pedigree, Genòmica, 030104 developmental biology, Mort cel·lular, Mutagenesis, Site-Directed, 030211 gastroenterology & hepatology, DNA mismatch repair, Female, Apoptosis Regulatory Proteins, Colorectal Neoplasms

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43d28b6b684e680120e8c69b7c4f4033

المؤلفون: Algirdas Utkus, Domenico Girelli, Sally Pollard, Henry Houlden, Jordi Sánchez-Delgado, John B. Porter, Nicholas W. Wood, Dulcineia M. Albuquerque, Kamil Kowalczyk, Marc Vila Cuenca, Alessandro Marchetto, Birute Burnyte, Perla Eleftheriou, Alejandro Giorgetti, Bartosz Karaszewski, Eda Suku, Fabiana Busti, Giacomo Marchi, Neus Baena-Díez, Kleber Yotsumoto Fertrin, Clara Esteban-Jurado, Ester Jové-Buxeda, Chiara Piubelli, P Bignell, Mayka Sanchez, Viorica Chelban, Marina Dorigatti Borges, Anna Barqué, Gintaras Kaubrys

المصدر: International Journal of Molecular Sciences
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
International Journal of Molecular Sciences, Vol 21, Iss 2374, p 2374 (2020)
Volume 21
Issue 7
International journal of molecular sciences, Basel : MDPI, 2020, vol. 21, no. 7, art. no. 2374, p. [1-14]

مصطلحات موضوعية: Male, Models, Molecular, Metabolismo del hierro, Enfermedad neurodegenerativa, Microcytic anemia, Ceruloplasmina, Anèmia, Bioinformatics, Neurodegenerative disease, lcsh:Chemistry, Liver disease, neurodegenerative disease, iron metabolism, Aceruloplasminemia, lcsh:QH301-705.5, Spectroscopy, Metabolisme del ferro, biology, Ceruloplasmin, Neurodegenerative Diseases, Anemia, General Medicine, Middle Aged, Iron metabolism, aceruloplasminemia, ceruloplasmin, anemia, Computer Science Applications, Aceruloplasminèmia, Liver, Malaltia neurodegenerativa, Female, Adult, 616.8, Catalysis, Article, Inorganic Chemistry, medicine, Humans, Physical and Theoretical Chemistry, Molecular Biology, Aged, Ferritin, business.industry, Genetic heterogeneity, Transferrin saturation, Ferritina, Organic Chemistry, ferritin, medicine.disease, Iron Metabolism Disorders, Early Diagnosis, lcsh:Biology (General), lcsh:QD1-999, Mutation, biology.protein, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::816b90b81ea56ae7ab3b099bc22b677e
https://fundanet.igtp.cat/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=5283

المؤلفون: Juan José Lozano, Xavier Bessa, Teresa Ocaña, Anna Abulí, Trinidad Caldés, Sebastià Franch-Expósito, Josep M. Piqué, Clara Ruiz-Ponte, Miriam Cuatrecasas, Clara Esteban-Jurado, Montserrat Andreu, Francesc Balaguer, Sergi Beltran, Sergi Castellví-Bel, Anna Pristoupilova, Luis Bujanda, María López-Cerón, Jenifer Muñoz, Pilar Garre, Antoni Castells, Angel Carracedo, Maria Vila-Casadesús

المصدر: Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Genetics in Medicine

مصطلحات موضوعية: genetic variant, Male, Colorectal cancer, Genetic counseling, Loss of Heterozygosity, Genetic Counseling, Biology, symbols.namesake, Germline mutation, MUTYH, medicine, Humans, Exome, Genetic Predisposition to Disease, Original Research Article, Germ-Line Mutation, Genetics (clinical), Exome sequencing, genetic predisposition to disease, Genetics, Sanger sequencing, Reproducibility of Results, Genetic Variation, High-Throughput Nucleotide Sequencing, Cancer, hereditary disease, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Pedigree, symbols, next-generation sequencing, colorectal neoplasm, Colorectal Neoplasms

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78479fb480bfe724e7e2f3d9cb59f957
https://doi.org/10.1038/gim.2014.89

المؤلفون: Xiaomu Wei, Clara Esteban-Jurado, Sergi Castellví-Bel, Haiyuan Yu, Sebastià Franch-Expósito, Siwei Chen, Juan Felipe Beltran, Steven M. Lipkin

المصدر: Nucleic Acids Research

مصطلحات موضوعية: 0301 basic medicine, Prioritization, Computer science, Sequencing data, Cloud computing, Biology, Bioinformatics, Personalization, 03 medical and health sciences, Human disease, Germline mutation, Research community, Genetics, Humans, Disease, Germ-Line Mutation, Internet, business.industry, High-Throughput Nucleotide Sequencing, Cloud Computing, Data science, 030104 developmental biology, Workflow, Web Server Issue, Colorectal Neoplasms, business, Software

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::870ed624fc25c59b788cdc586d4938de
https://doi.org/10.1101/052001

المؤلفون: Francesc Balaguer, Luis Bujanda, María López-Cerón, Alejandro Brea-Fernández, Clara Ruiz-Ponte, Juan José Lozano, Trinidad Caldés, Joaquín Cubiella, Teresa Ocaña, Sebastià Franch-Expósito, Sabela Carballal, Maria Vila-Casadesús, Pilar Garre, Enric Serra, Sergi Castellví-Bel, Antoni Castells, Clara Esteban-Jurado, Jenifer Muñoz, Sergi Beltran, Miriam Cuatrecasas

المصدر: Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
European Journal of Human Genetics

مصطلحات موضوعية: 0301 basic medicine, Male, DNA Repair, DNA repair, Short Report, DNA-Directed DNA Polymerase, Biology, Germline, 03 medical and health sciences, 0302 clinical medicine, FANCE, Germline mutation, Fanconi anemia, Genetics, medicine, Humans, Exome, Genetic Predisposition to Disease, Genetics (clinical), Germ-Line Mutation, Genes, Dominant, BRCA1 Protein, Fanconi Anemia Complementation Group C Protein, BRIP1, Cancer, medicine.disease, Fanconi Anemia Complementation Group E Protein, Pedigree, DNA-Binding Proteins, 030104 developmental biology, Fanconi Anemia, Spain, 030220 oncology & carcinogenesis, Female, Colorectal Neoplasms

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03f1eeb0896b7ea858b4c3c0deddb957
https://hdl.handle.net/20.500.12530/26563

المؤلفون: Juan Clofent, Josep M. Piqué, Maria Rodriguez-Soler, Francesc Balaguer, Clara Ruiz-Ponte, Joaquín Cubiella, Rodrigo Jover, Juan José Lozano, Luis Bujanda, David Nicolás-Pérez, Xavier Bessa, Jenifer Muñoz, Antoni Castells, Rosa M. Xicola, Josep Maria Reñe, Anna Abulí, Clara Esteban-Jurado, Angel Carracedo, Montserrat Andreu, Sergi Castellví-Bel, Xavier Llor, Ceres Fernandez-Rozadilla, Juan Diego Morillas

المصدر: Carcinogenesis. 34(10)

مصطلحات موضوعية: Oncology, Adult, Male, Cancer Research, medicine.medical_specialty, Genotype, Colorectal cancer, Polymorphism, Single Nucleotide, Internal medicine, Genetic variation, medicine, Genetic predisposition, Humans, Genetic Predisposition to Disease, Allele, Aged, Neoplasm Staging, Aged, 80 and over, business.industry, Hazard ratio, Genetic Variation, General Medicine, Middle Aged, medicine.disease, Prognosis, Confidence interval, Population Surveillance, Cohort, Female, business, Colorectal Neoplasms, Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfc2ed9add3ff3bc61a1f4839cd0c299
https://pubmed.ncbi.nlm.nih.gov/23712746

المؤلفون: Pilar Garre, T. Caldes, J. Munoz, J M Piqué, Clara Esteban-Jurado, C. Ruiz-Ponte, Maria Vila-Casadesús, Xavier Bessa, Montserrat Andreu, Sebastià Franch-Expósito, Anna Abulí, Anna Pristoupilova, Francesc Balaguer, Luis Bujanda, Antoni Castells, Miriam Cuatrecasas, Sergi Beltran, Juan José Lozano, Teresa Ocaña, Sergi Castellví-Bel, María López-Cerón, Angel Carracedo

المصدر: Genetics in Medicine. 16:988-989

مصطلحات موضوعية: Genetics, Biology, Colorectal cancer genetics, Gene, Genetics (clinical), Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8b315b173a5916a22bd8b2803851dce6
https://doi.org/10.1038/gim.2014.126

المؤلفون: María Vila, C. Ruiz-Ponte, Anna Abulí, Clara Esteban-Jurado, Antoni Castells, Francesc Balaguer, Luis Bujanda, Anna Pristoupilova, Juan José Lozano, Pilar Garre, Montserrat Andreu, T. Caldes, Sergi Castellví-Bel, Angel Carracedo, Josep M. Piqué, Jenifer Muñoz, Sergi Beltran, Teresa Ocaña, Xavier Bessa

المساهمون: Universitat de Barcelona

المصدر: Dipòsit Digital de la UB
Universidad de Barcelona
Recercat. Dipósit de la Recerca de Catalunya
instname

مصطلحات موضوعية: Adenomatous polyposis coli, Single-nucleotide polymorphism, Environment, Genetic polymorphisms, Polymorphism, Single Nucleotide, Genètica molecular, Familial adenomatous polyposis, Germline mutation, Risk Factors, Càncer colorectal, Malalties hereditàries, medicine, Genetic predisposition, Humans, Genetic Predisposition to Disease, Topic Highlight, Molecular genetics, Exome, Genetic Association Studies, Germ-Line Mutation, Genetics, Geography, biology, Genome, Human, Incidence, Polimorfisme genètic, Gastroenterology, Genetic Variation, Family aggregation, Sequence Analysis, DNA, General Medicine, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Colorectal cancer, digestive system diseases, Lynch syndrome, Adenomatous Polyposis Coli, biology.protein, Colorectal Neoplasms, Genetic diseases

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61e9cdf0ec2d6454d0ec2cae1a728dc0
https://doi.org/10.3748/wjg.v20.i8.1961

المؤلفون: Clara Esteban-Jurado, Anna Abulí, Jenifer Muñoz, Franc-Esc Balaguer, Teresa Ocaña, Antoni Castells, Josep M Piqué, Sergi Castellví-Bel, Xavier Bessa, Montserrat Andreu, Maria Vila, Bioinformatics Juan José Lozano, Anna Pristoupilova, Sergi Beltrán, Angel Carracedo, Clara Ruiz-Ponte, PhD Sergi Castellví-Bel, Pilar Garre, Juan José Lozano, Francesc Balaguer, Luis Bujanda, Trinidad Caldés

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://public-files.prbb.org/publicacions/c4cc4f60-8690-0131-59cf-525400e56e78.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1036.8310; http://public-files.prbb.org/publicacions/c4cc4f60-8690-0131-59cf-525400e56e78.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1036.8310
http://public-files.prbb.org/publicacions/c4cc4f60-8690-0131-59cf-525400e56e78.pdf