المؤلفون: Paula Rofes, Jesús Del Valle, Sara Torres-Esquius, Lídia Feliubadaló, Agostina Stradella, José Marcos Moreno-Cabrera, Adriana López-Doriga, Elisabet Munté, Rafael De Cid, Olga Campos, Raquel Cuesta, Álex Teulé, Èlia Grau, Judit Sanz, Gabriel Capellá, Orland Díez, Joan Brunet, Judith Balmaña, Conxi Lázaro

المصدر: Genes, Vol 12, Iss 2, p 150 (2021)

مصطلحات موضوعية: BARD1, breast cancer, triple-negative breast cancer, ovarian cancer, hereditary breast and ovarian cancer, moderate cancer risk, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/12/2/150Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/b3531c73d7e5467385ca8396dd35da9dTest

المؤلفون: Jesús del Valle, Paula Rofes, José Marcos Moreno-Cabrera, Adriana López-Dóriga, Sami Belhadj, Gardenia Vargas-Parra, Àlex Teulé, Raquel Cuesta, Xavier Muñoz, Olga Campos, Mónica Salinas, Rafael de Cid, Joan Brunet, Sara González, Gabriel Capellá, Marta Pineda, Lídia Feliubadaló, Conxi Lázaro

المصدر: Cancers, Vol 12, Iss 4, p 829 (2020)

مصطلحات موضوعية: Breast cancer risk, Breast and ovarian cancer risk, Fanconi Anemia, Hereditary Cancer, NGS panel sequencing, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2072-6694/12/4/829Test; https://doaj.org/toc/2072-6694Test

الوصول الحر: https://doaj.org/article/ee66aca0a86343cf8fed4a81bed424eaTest

المؤلفون: José Marcos Moreno-Cabrera

مصطلحات موضوعية: Cancer genetics, genetic databse, data sharing, variant classification, hereditary cancer

العلاقة: https://figshare.com/articles/software/SpadaHC_source_code/25311124Test

الإتاحة: https://doi.org/10.6084/m9.figshare.25311124.v1Test
https://figshare.com/articles/software/SpadaHC_source_code/25311124Test

المؤلفون: Elisabet Munté, Lidia Feliubadaló, Marta Pineda, Eva Tornero, Maribel Gonzalez, José Marcos Moreno-Cabrera, Carla Roca, Joan Bales Rubio, Laura Arnaldo, Gabriel Capellá, Jose Luis Mosquera, Conxi Lázaro

المصدر: Bioinformatics. 39

مصطلحات موضوعية: Statistics and Probability, Computational Mathematics, Computational Theory and Mathematics, Molecular Biology, Biochemistry, Computer Science Applications

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::26f68fe6e2f5772cdcde124cfd9cccc2Test
https://doi.org/10.1093/bioinformatics/btad128Test

المؤلفون: Conxi Lázaro, Estela Carrasco, Mónica Salinas, Mar Varela, Elia Grau, Napoleón de la Ossa Merlano, Esther Darder, Ares Solanes, Angela Velasco, Teresa Ramón y Cajal, Silvia Iglesias, Sara González, Jesús del Valle, Marta Pineda, Noemí Tuset, Gemma Llort, Judith Balmaña, José Marcos Moreno-Cabrera, Barbara Rivera, Carolina Gómez, Matilde Navarro, Gabriel Capellá, Xavier Matias-Guiu, Joan Brunet, Paula Rofes, Nuria Dueñas

المصدر: JOURNAL OF MOLECULAR DIAGNOSTICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

مصطلحات موضوعية: Adult, Male, Genes, APC, Somatic cell, Colorectal cancer, Adenomatous Polyposis Coli Protein, Germline, Pathology and Forensic Medicine, Familial adenomatous polyposis, Cohort Studies, Young Adult, medicine, Humans, Blood test, Genetic Predisposition to Disease, Genetic Testing, Gene, Germ-Line Mutation, Aged, medicine.diagnostic_test, Mosaicism, business.industry, High-Throughput Nucleotide Sequencing, Middle Aged, medicine.disease, Phenotype, digestive system diseases, Adenomatous Polyposis Coli, Cancer research, Etiology, Molecular Medicine, Female, Colorectal Neoplasms, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08fa2ef9056fbf06be8d827cdd137655Test
https://doi.org/10.1016/j.jmoldx.2021.07.024Test

المؤلفون: Elisabeth Castellanos, Conxi Lázaro, Jesús del Valle, Gabriel Capellá, Marta Pineda, Eduard Serra, José Marcos Moreno-Cabrera, Lídia Feliubadaló, Bernat Gel

المصدر: Bioinformatics
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Dipòsit Digital de la UB
Universidad de Barcelona

مصطلحات موضوعية: Statistics and Probability, Source code, Computer science, media_common.quotation_subject, Computational biology, Biochemistry, Germline, Bioconductor, 03 medical and health sciences, 0302 clinical medicine, False positive paradox, Overall performance, Molecular Biology, 030304 developmental biology, media_common, Supplementary data, 0303 health sciences, nutritional and metabolic diseases, Computer Science Applications, Scientific errors, Computational Mathematics, R package, Computational Theory and Mathematics, Diagnòstic de laboratori, Errors científics, Laboratory diagnosis, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef16786d77afe8a83bdb2a1a1a42ea5aTest
https://fundanet.igtp.cat/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=1529Test

المؤلفون: Lídia Feliubadaló, Raquel Cuesta, José Marcos Moreno-Cabrera, Bernat Gel, Marta Pineda, Eduard Serra, Joan Brunet, Conxi Lázaro, Sara González, Gabriel Capellá, Olga Campos, Jesús del Valle

المصدر: Journal of medical genetics. 59(1)

مصطلحات موضوعية: musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, DNA Copy Number Variations, Computational biology, Germline mutation, Neoplasms, Genetics, medicine, Humans, Mutation detection, Multiplex, Genetic Predisposition to Disease, Multiplex ligation-dependent probe amplification, Genetic Testing, Prospective Studies, Prospective cohort study, Genetics (clinical), Early Detection of Cancer, Genetic testing, Retrospective Studies, medicine.diagnostic_test, business.industry, High-Throughput Nucleotide Sequencing, Retrospective cohort study, Sequence Analysis, DNA, Mutation, Costs and Cost Analysis, Hereditary Cancer, business, Software

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf50c4548dc63cd042107956fe43cdb6Test
https://pubmed.ncbi.nlm.nih.gov/33219106Test

المؤلفون: Mireia Menéndez, José Marcos Moreno-Cabrera, Gabriel Capellá, Paula Rofes, Silvia Iglesias, Jesús del Valle, Eva Tornero, Adriana Lopez-Doriga, Matilde Navarro, Alex Teulé, Lídia Feliubadaló, Gardenia Vargas-Parra, Angela Velasco, Daniel Azuara, Marta Pineda, Rafael de Cid, Sara González, Raquel Cuesta, Conxi Lázaro, Joan Brunet, Olga Campos, Mireia Gausachs, Xavier Muñoz, Esther Darder, Agostina Stradella

مصطلحات موضوعية: Oncology, medicine.medical_specialty, business.industry, Colorectal cancer, Molecular pathology, Genomics, medicine.disease, Breast cancer, Internal medicine, Cohort, Medicine, Missense mutation, Medical genetics, skin and connective tissue diseases, business, CHEK2

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::54b10f58c1c8851830b1ccfc697dbf7aTest
https://doi.org/10.22541/au.159050458.86704879Test

المؤلفون: Matilde Navarro, Raquel Cuesta, Jesús del Valle, Sara González, Eva Tornero, Joan Brunet, Alex Teulé, Paula Rofes, José Marcos Moreno-Cabrera, Silvia Iglesias, Angela Velasco, Rafael de Cid, Olga Campos, Gardenia Vargas-Parra, Esther Darder, Marta Pineda, Gabriel Capellá, Mireia Menéndez, Xavier Muñoz, Adriana Lopez-Doriga, Agostina Stradella, Mireia Gausachs, Conxi Lázaro, Daniel Azuara, Lídia Feliubadaló

المصدر: Human mutationREFERENCES. 41(12)

مصطلحات موضوعية: Oncology, Male, Societies, Scientific, medicine.medical_specialty, DNA Copy Number Variations, Colorectal cancer, Genomics, Biology, Cohort Studies, 03 medical and health sciences, Breast cancer, Internal medicine, Neoplasms, Genetics, medicine, Missense mutation, Humans, Family, RNA, Messenger, skin and connective tissue diseases, CHEK2, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Base Sequence, Molecular pathology, 030305 genetics & heredity, Genetic Variation, Molecular Sequence Annotation, medicine.disease, Pedigree, Checkpoint Kinase 2, Gene Expression Regulation, Cohort, Mutation, Medical genetics, Female, RNA Splice Sites

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8c30338b9c92b80540b3b71d3ea473cTest
https://pubmed.ncbi.nlm.nih.gov/32906215Test

المؤلفون: Lídia Feliubadaló, Raquel Cuesta, Paula Rofes, Sami Belhadj, Rafael de Cid, Mónica Salinas, Gardenia Vargas-Parra, Alex Teulé, Olga Campos, Joan Brunet, Conxi Lázaro, José Marcos Moreno-Cabrera, Adriana Lopez-Doriga, Xavier Muñoz, Jesús del Valle, Gabriel Capellá, Sara González, Marta Pineda

المصدر: Cancers, Vol 12, Iss 829, p 829 (2020)
Dipòsit Digital de la UB
Universidad de Barcelona
Cancers
Volume 12
Issue 4
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname

مصطلحات موضوعية: 0301 basic medicine, Cancer Research, Càncer d'ovari, Anèmia, lcsh:RC254-282, Article, Càncer de mama, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, FANCF, FANCG, Fanconi anemia, Ovarian cancer, hemic and lymphatic diseases, FANCD2, medicine, business.industry, Cancer, Hereditary Cancer, Anemia, NGS panel sequencing, medicine.disease, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, FANCA, FANCB, 030104 developmental biology, Fanconi Anemia, Oncology, 030220 oncology & carcinogenesis, Breast and ovarian cancer risk, Cancer research, business, Breast cancer risk

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb45fc502540572f9bf96f231008033bTest
https://www.mdpi.com/2072-6694/12/4/829Test