Zobrazeno 1 - 10
of 13
pro vyhledávání: '"José Garcia‐Pelaez"'
Autor:
German Demidov, Burcu Yaldiz, José Garcia-Pelaez, Elke de Boer, Nika Schuermans, Liedewei Van de Vondel, Ida Paramonov, Lennart F. Johansson, Francesco Musacchia, Elisa Benetti, Gemma Bullich, Karolis Sablauskas, Sergi Beltran, Christian Gilissen, Alexander Hoischen, Stephan Ossowski, Richarda de Voer, Katja Lohmann, Carla Oliveira, Ana Topf, Lisenka E. L. M. Vissers, Solve-RD Consortium, Steven Laurie
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-24 (2024)
Abstract We report the results of a comprehensive copy number variant (CNV) reanalysis of 9171 exome sequencing datasets from 5757 families affected by a rare disease (RD). The data reanalysed was extremely heterogeneous, having been generated using
Externí odkaz:
https://doaj.org/article/4d88b3c6b5114df2a433fd422b818ed2
Publikováno v:
Molecular Oncology, Vol 15, Iss 11, Pp 2841-2867 (2021)
Gastric cancer (GC) pathogenesis is complex and heterogeneous, reflecting morphological, molecular and genetic diversity. Diffuse gastric cancer (DGC) and intestinal gastric cancer (IGC) are the major histological types. GC may be sporadic or heredit
Externí odkaz:
https://doaj.org/article/54411e83c7db455ea0245eec7ff8018d
Autor:
Gerardo Garcia-Rivas, Carlos Jerjes-Sánchez, David Rodriguez, José Garcia-Pelaez, Victor Trevino
Publikováno v:
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-10 (2017)
Abstract Background Pulmonary arterial hypertension (PAH) is a group of vascular diseases that produce right ventricular dysfunction, heart failure syndrome, and death. Although the majority of patients appear idiopathic, accumulated research work co
Externí odkaz:
https://doaj.org/article/e99af6ef84f34b3cac0fcba0f727180e
Autor:
José Garcia-Pelaez, Rita Barbosa-Matos, Silvana Lobo, Alexandre Dias, Luzia Garrido, Sérgio Castedo, Sónia Sousa, Hugo Pinheiro, Liliana Sousa, Rita Monteiro, Joaquin J Maqueda, Susana Fernandes, Fátima Carneiro, Nádia Pinto, Carolina Lemos, Carla Pinto, Manuel R Teixeira, Stefan Aretz, Svetlana Bajalica-Lagercrantz, Judith Balmaña, Ana Blatnik, Patrick R Benusiglio, Maud Blanluet, Vincent Bours, Hilde Brems, Joan Brunet, Daniele Calistri, Gabriel Capellá, Sergio Carrera, Chrystelle Colas, Karin Dahan, Robin de Putter, Camille Desseignés, Elena Domínguez-Garrido, Conceição Egas, D Gareth Evans, Damien Feret, Eleanor Fewings, Rebecca C Fitzgerald, Florence Coulet, María Garcia-Barcina, Maurizio Genuardi, Lisa Golmard, Karl Hackmann, Helen Hanson, Elke Holinski-Feder, Robert Hüneburg, Mateja Krajc, Kristina Lagerstedt-Robinson, Conxi Lázaro, Marjolijn J L Ligtenberg, Cristina Martínez-Bouzas, Sonia Merino, Geneviève Michils, Srdjan Novaković, Ana Patiño-García, Guglielmina Nadia Ranzani, Evelin Schröck, Inês Silva, Catarina Silveira, José L Soto, Isabel Spier, Verena Steinke-Lange, Gianluca Tedaldi, María-Isabel Tejada, Emma R Woodward, Marc Tischkowitz, Nicoline Hoogerbrugge, Carla Oliveira
Publikováno v:
Garcia-Pelaez, J, Barbosa-Matos, R, Lobo, S, Dias, A, Garrido, L, Castedo, S, Sousa, S, Pinheiro, H, Sousa, L, Monteiro, R, Maqueda, J J, Fernandes, S, Carneiro, F, Pinto, N, Lemos, C, Pinto, C, Teixeira, M R, Aretz, S, Bajalica-Lagercrantz, S, Balmaña, J, Blatnik, A, Benusiglio, P R, Blanluet, M, Bours, V, Brems, H, Brunet, J, Calistri, D, Capellá, G, Carrera, S, Colas, C, Dahan, K, de Putter, R, Desseignés, C, Domínguez-Garrido, E, Egas, C, Evans, D G, Feret, D, Fewings, E, Fitzgerald, R C, Coulet, F, Garcia-Barcina, M, Genuardi, M, Golmard, L, Hackmann, K, Hanson, H, Holinski-Feder, E, Hüneburg, R, Krajc, M, Lagerstedt-Robinson, K, Lázaro, C, Ligtenberg, M J L, Martínez-Bouzas, C, Merino, S, Michils, G, Novaković, S, Patiño-García, A, Ranzani, G N, Schröck, E, Silva, I, Silveira, C, Soto, J L, Spier, I, Steinke-Lange, V, Tedaldi, G, Tejada, M-I, Woodward, E R, Tischkowitz, M, Hoogerbrugge, N & Oliveira, C 2023, ' Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes : a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes ', The Lancet. Oncology, vol. 24, no. 1, pp. 91-106 . https://doi.org/10.1016/S1470-2045(22)00643-X
Lancet Oncology, 24, 1, pp. 91-106
Scientia
Lancet Oncology, 24, 91-106
Lancet Oncology, 24, 1, pp. 91-106
Scientia
Lancet Oncology, 24, 91-106
Genotype; Cancer phenotypes; Genetic tumour Genotip; Fenotips del càncer; Tumor genètic Genotipo; Fenotipos del cáncer; Tumor genético Background Truncating pathogenic or likely pathogenic variants of CDH1 cause hereditary diffuse gastric cancer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0135cda703c531e384ac8d463c801fde
https://lirias.kuleuven.be/handle/20.500.12942/714811
https://lirias.kuleuven.be/handle/20.500.12942/714811
Publikováno v:
Hereditary Gastric and Breast Cancer Syndrome ISBN: 9783031213168
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e02c4b0e40ebf1d084b3aa14320ff63d
https://doi.org/10.1007/978-3-031-21317-5_9
https://doi.org/10.1007/978-3-031-21317-5_9
Autor:
Anna K. Sommer, Iris B.A.W. te Paske, José Garcia-Pelaez, Andreas Laner, Elke Holinski-Feder, Verena Steinke-Lange, Sophia Peters, Laura Valle, Isabel Spier, David Huntsman, Carla Oliveira, Richarda M. de Voer, Nicoline Hoogerbrugge, Stefan Aretz, Gabriel Capella, Gareth Evans, Andreas Rump, Evelin Schröck, Alexander Hoischen, Nicoline Geverink, Marc Tischkowitz, Leslie Matalonga, Steven Laurie, Christian Gilissen, Wouter Steyaert, German Demidov
Publikováno v:
European Journal of Medical Genetics, 65
European Journal of Medical Genetics, 65, 5
European Journal of Medical Genetics, 65, 5
Background: Patients and families with suspected, but genetically unexplained (unsolved) genetic tumour risk syndromes lack appropriate treatment and prevention, leading to preventable morbidity and mortality. To tackle this problem, patients from th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd81a62ab9d3b8928c73e1a1d1473b35
http://hdl.handle.net/10230/54621
http://hdl.handle.net/10230/54621
Autor:
Rita, Barbosa-Matos, Rafaela, Leal Silva, Luzia, Garrido, Ana Cerqueira, Aguiar, José, Garcia-Pelaez, Ana, André, Susana, Seixas, Sónia Passos, Sousa, Luísa, Ferro, Lúcia, Vilarinho, Irene, Gullo, Vitor, Devezas, Renata, Oliveira, Susana, Fernandes, Susy Cabral, Costa, André, Magalhães, Manuela, Baptista, Fátima, Carneiro, Hugo, Pinheiro, Sérgio, Castedo, Carla, Oliveira
Publikováno v:
Cancers
Simple Summary An unexpectedly high number of early-onset diffuse gastric and lobular breast cancer in apparently unrelated families carrying the same CDH1 c.1901C>T variant (formerly known as missense p.A634V) in Northern Portugal suggested a founde
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a442b639a36d7bf00427f7496158a4c8
https://pubmed.ncbi.nlm.nih.gov/34503274
https://pubmed.ncbi.nlm.nih.gov/34503274
Publikováno v:
Molecular Oncology
Mol Oncol
Mol Oncol
Gastric cancer (GC) pathogenesis is complex and heterogeneous, reflecting morphological, molecular and genetic diversity. Diffuse gastric cancer (DGC) and intestinal gastric cancer (IGC) are the major histological types. GC may be sporadic or heredit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6db2b93ed4bd0b4b7e9da5060f191108
https://pubmed.ncbi.nlm.nih.gov/33724653
https://pubmed.ncbi.nlm.nih.gov/33724653
Autor:
Susy Costa, André Magalhães, Luísa Ferro, Susana Fernandes, Hugo Pinheiro, Renata Cartaxo de Oliveira, Ana Cerqueira Aguiar, Sónia Passos Sousa, Manuela Baptista, Carla Oliveira, Fátima Carneiro, Rita Barbosa-Matos, José Garcia-Pelaez, Irene Gullo, Lúcia Vilarinho, Rafaela Silva, Sérgio Castedo, Luzia Garrido, Susana Seixas, Ana André, Vítor Devezas
Publikováno v:
Cancers (Basel)
Cancers, Vol 13, Iss 4464, p 4464 (2021)
Cancers, Vol 13, Iss 4464, p 4464 (2021)
Hereditary diffuse gastric cancer (HDGC) caused by CDH1 variants predisposes to early-onset diffuse gastric (DGC) and lobular breast cancer (LBC). In Northern Portugal, the unusually high number of HDGC cases in unrelated families carrying the c.1901
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4475302c2ff77541a76c039b73cbbfb
https://doi.org/10.3390/cancers13174464
https://doi.org/10.3390/cancers13174464
Autor:
Roberto Medina-Molina, José Garcia-Pelaez, Victor Trevino, David Rodriguez, Gerardo García-Rivas, Carlos Jerjes-Sánchez
Publikováno v:
Database: The Journal of Biological Databases and Curation
Background and objective Analysis, annotation and curation of biomedical scientific literature is a recurrent task in biomedical research, database curation and clinics. Commonly, the reading is centered on concepts such as genes, diseases or molecul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::387c7e7afb1d83c847936a3661bfd4f9
https://pubmed.ncbi.nlm.nih.gov/30624653
https://pubmed.ncbi.nlm.nih.gov/30624653