Zobrazeno 1 - 6
of 6
pro vyhledávání: '"David De Uña-Iglesias"'
Publikováno v:
Genes, Vol 15, Iss 6, p 774 (2024)
Cardiomyopathies (CMs), one of the main causes of sudden death among the young population, are a heterogeneous group of myocardial diseases, usually with a genetic cause. Next-Generation Sequencing (NGS) has expanded the genes studied for CMs; howeve
Externí odkaz:
https://doaj.org/article/f56c45fe7e674d31a5cd2657441c8bf7
Autor:
José María, García-Aznar, Sara, Alonso, David De Uña, Iglesias, Paula López, de Ugarriza, Carmen Álvarez, López, Milagros, Balbín, Teresa Bernal, Del Castillo
Publikováno v:
WOS:000884227800006
Despite the irruption of massive sequencing technologies in clinical routine, the genetic diagnosis of T-cell acute lymphoblastic leukemia (T-ALL) continues to be based on traditional techniques. The integration of old and new technologies with diagn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c45de67c9a6796f8a92ffa4278eb0d9d
http://hdl.handle.net/10651/67626
http://hdl.handle.net/10651/67626
Autor:
David De Uña-Iglesias, Lorenzo Monserrat, Juan Pablo Trujillo-Quintero, Dolores García-Medina, María Luisa Peña-Peña, Eva María Cantero-Pérez
Publikováno v:
Revista Española de Cardiología. 73:780-782
Autor:
María Luisa Peña-Peña, Eva María Cantero-Pérez, Lorenzo Monserrat, Dolores García-Medina, David De Uña-Iglesias, Juan Pablo Trujillo-Quintero
Publikováno v:
Revista Española de Cardiología (English Edition). 73:780-782
Autor:
Lorenzo Monserrat, Marlene Pérez‐Barbeito, David De Uña-Iglesias, José Antonio Garrote, Natalia Sonicheva-Paterson, María M. de la Torre-Carpente, Laura Cazón‐Varela, Juan Pablo Ochoa, Svetlana S. Kuzmina‐Krutetskaya, Perry M. Elliott, Luis R. Lopes, Ellen Quinn
Publikováno v:
Clinical geneticsREFERENCES. 98(1)
Despite new strategies, such as evaluating deep intronic variants and new genes in whole-genome-sequencing studies, the diagnostic yield of genetic testing in hypertrophic cardiomyopathy (HCM) is still around 50%. FHOD3 has emerged as a novel disease
Autor:
Martin Ortiz-Genga, Alfonso Castro-Beiras, David De Uña-Iglesias, Diego García-Giustiniani, Ivan Lesende, Roberto Barriales-Villa, Lorenzo Monserrat, Petros Syrris
Publikováno v:
Europe PubMed Central
Scopus-Elsevier
Scopus-Elsevier
Cardiomyopathies are a heterogeneous group of primary diseases of the myocardium usually of genetic origin and with familial presentation. The identification of multiple genetic causes for these diseases has opened a new window for early diagnosis, u