Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Luis Santomé"'
Autor:
Mario Torrado, Emilia Maneiro, Arsonval Lamounier Junior, Miguel Fernández-Burriel, Sara Sánchez Giralt, Ana Martínez-Carapeto, Laura Cazón, Elisa Santiago, Juan Pablo Ochoa, William J. McKenna, Luis Santomé, Lorenzo Monserrat
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-22 (2022)
Abstract The finding of a genotype-negative hypertrophic cardiomyopathy (HCM) pedigree with several affected members indicating a familial origin of the disease has driven this study to discover causative gene variants. Genetic testing of the proband
Externí odkaz:
https://doaj.org/article/c868467e243b4073b28e6489e0a7d28c
Autor:
Mario Torrado, Germán Fernández, Christian A. Ganoza, Emilia Maneiro, Diego García, Natalia Sonicheva-Paterson, Isaac Rosa, Juan Pablo Ochoa, Luis Santomé, Elena Vasichkina, Lorenzo Monserrat
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-14 (2021)
Abstract Here we report an infant with clinical findings suggestive of Jervell and Lange-Nielsen syndrome (JLNS), including a prolonged QT interval (LQTS) and chronic bilateral sensorineural deafness. NGS analysis revealed one known heterozygous path
Externí odkaz:
https://doaj.org/article/4ac6dfad532a4107bb331639ee65c964
Autor:
Luis Ramudo-Cela, Sara Santana-Martínez, Maite García-Ramos, Mariano Bergamino, Diego García-Giustiniani, Paula Vélez-Vieitez, Jose Luis Hernández-Hernández, Carmen García-Ibarbia, Pablo González-Bustos, Patricia Ruíz-Martín, Jaime González-Lozano, Luis Santomé-Collazo, Andrea Grana-Fernandez, Pablo Cabaleiro-Cerviño, Martín Ortíz, Lorenzo Monserrat-Iglesias
Publikováno v:
The pharmacogenomics journal. 22(3)
The diagnostic process of familial hypercholesterolemia frequently involves the use of genetic studies. Patients are treated with lipid-lowering drugs, frequently statins. Although pharmacogenomic clinical practice guidelines focusing on genotype-bas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3993dcb1c27c672b5371dbd949d448cb
https://pubmed.ncbi.nlm.nih.gov/35361995
https://pubmed.ncbi.nlm.nih.gov/35361995
Autor:
Lorenzo Monserrat, Luis Santomé, Emilia Maneiro, Juan Pablo Ochoa, Christian A. Ganoza, Natalia Sonicheva-Paterson, Elena Vasichkina, Isaac Rosa, Germán Fernández, Mario Torrado, Diego A. García
Publikováno v:
RUC. Repositorio da Universidade da Coruña
instname
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-14 (2021)
NPJ Genomic Medicine
instname
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-14 (2021)
NPJ Genomic Medicine
Here we report an infant with clinical findings suggestive of Jervell and Lange-Nielsen syndrome (JLNS), including a prolonged QT interval (LQTS) and chronic bilateral sensorineural deafness. NGS analysis revealed one known heterozygous pathogenic mi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42a154ea2e41865e425c2803ba75bc3a
http://hdl.handle.net/2183/30985
http://hdl.handle.net/2183/30985
Autor:
Joel, Salazar-Mendiguchía, Juan Pablo, Ochoa, Julian, Palomino-Doza, Fernando, Domínguez, Carles, Díez-López, Mohammed, Akhtar, Soraya, Ramiro-León, María M, Clemente, Antonia, Pérez-Cejas, María, Robledo, Iria, Gómez-Díaz, María Luisa, Peña-Peña, Vicente, Climent, Francisco, Salmerón-Martínez, Celestino, Hernández, Pablo E, García-Granja, M Victoria, Mogollón, Ivonne, Cárdenas-Reyes, Marcos, Cicerchia, Diego, García-Giustiniani, Arsonval, Lamounier, Belén, Gil-Fournier, Felícitas, Díaz-Flores, Rafael, Salguero, Luis, Santomé, Petros, Syrris, Montse, Olivé, Pablo, García-Pavía, Martín, Ortiz-Genga, Perry M, Elliott, Lorenzo, Monserrat, Juan Pablo, Trujillo-Quintero
Publikováno v:
Heart
Objective Up to 50% of patients with hypertrophic cardiomyopathy (HCM) show no disease-causing variants in genetic studies. TRIM63 has been suggested as a candidate gene for the development of cardiomyopathies, although evidence for a causative role
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1c8a508c2449acab35307ea7a3fbb05a
https://pubmed.ncbi.nlm.nih.gov/32451364
https://pubmed.ncbi.nlm.nih.gov/32451364
Autor:
Mercedes Cao-Vilariño, Lorenzo Monserrat, José Luis Santomé-Collazo, Roberto Barriales-Villa, Juan Pablo Ochoa, Juan Mosquera-Reboredo
Publikováno v:
Revista Española de Cardiología. 72:585-587
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4db0bd07245e8bff46e193adadb70925
https://doi.org/10.1016/j.recesp.2018.06.010
https://doi.org/10.1016/j.recesp.2018.06.010
Autor:
Lorenzo Monserrat, Mercedes Cao-Vilariño, José Luis Santomé-Collazo, Roberto Barriales-Villa, Juan Mosquera-Reboredo, Juan Pablo Ochoa
Publikováno v:
Revista Española de Cardiología (English Edition). 72:585-587
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f858da5aeb2a64c4b9f064aa8dcd0d89
https://doi.org/10.1016/j.rec.2018.06.013
https://doi.org/10.1016/j.rec.2018.06.013
Autor:
Luis Santomé, Eduardo Paz, Manuel Arrojo, Mario Páramo, Beatriz Sobrino, Javier González-Peñas, Javier Costas, Julio Brenlla, Jorge Amigo, Santiago Agra, Angel Carracedo
Publikováno v:
Schizophrenia Research. 174:10-16
There is mounting evidence that regulatory variation plays an important role in genetic risk for schizophrenia. Here, we specifically search for regulatory variants at risk by sequencing promoter regions of twenty-three genes implied in schizophrenia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a628e79ba878353cf985e44eec27251
https://doi.org/10.1016/j.schres.2016.03.029
https://doi.org/10.1016/j.schres.2016.03.029
Akademický článek
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Autor:
Cristina Castro-Fernández, Jorge Amigo, Angel Carracedo, Patricia Blanco-Arias, Luis Santomé-Collazo, María-Jesús Sobrido, Manuel Arias
Publikováno v:
Applied & Translational Genomics
Applied and Translational Genomics, Vol 5, Iss C, Pp 33-36 (2015)
Applied and Translational Genomics, Vol 5, Iss C, Pp 33-36 (2015)
Next generation sequencing (NGS) is transforming the diagnostic approach for neurological disorders, since it allows simultaneous analysis of hundreds of genes, even based on just a broad, syndromic patient categorization. However, such an approach b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6c2174f72dd0046303a51626f8adbd8
https://doi.org/10.1016/j.atg.2015.05.005
https://doi.org/10.1016/j.atg.2015.05.005