Browsing by Subject Cribratge genètic
Showing results 1 to 11 of 11
| Issue Date | Title | Author(s) |
|---|---|---|
| 4-Jan-2017 | A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape | Castellanos, Elisabeth; Gel, Bernat; Rosas, Inma; Tornero, Eva; Santín, Sheila; Pluvinet Ortega, Raquel; Velasco, Juan; Sumoy, Lauro; Valle Domínguez, Jesús del; Perucho, Manuel; Blanco Guillermo, Ignacio; Navarro, Matilde; Brunet, Joan; Pineda Riu, Marta; Feliubadaló i Elorza, Maria Lídia; Capellá, G. (Gabriel); Lázaro García, Conxi; Serra Arenas, Eduard |
| 1-Oct-2019 | Approaches to functionally validate candidate genetic variants involved in colorectal cancer predisposition | Bonjoch Gassol, Laia; Mur, Pilar; Arnau Collell, Coral; Vargas Parra, Gardenía María; Shamloo, Bahar; Franch Expósito, Sebastià; Pineda Riu, Marta; Capellá, G. (Gabriel); Erman, Batu; Castellví Bel, Sergi |
| 4-Jan-2017 | Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer | Feliubadaló i Elorza, Maria Lídia; Tonda, Raul; Gausachs Romero, Mireia; Trotta, Jean Rémi; Castellanos, Elisabeth; López Dóriga Guerra, Adriana; Teulé-Vega, Àlex; Tornero, Eva; Valle Domínguez, Jesús del; Gel, Bernat; Gut, Marta; Pineda Riu, Marta; González, Sara; Menéndez Vilà, Mireia; Navarro, Matilde; Capellá, G. (Gabriel); Gut, Ivo G.; Serra Arenas, Eduard; Brunet, Joan; Beltran i Agulló, Sergi; Lázaro García, Conxi |
| 22-Jul-2020 | Caracterización clínica y molecular del síndrome de Rett: elucidar los casos no resueltos | Vidal Falcó, Silvia |
| Mar-2020 | Fibromyalgia through genetics: development of a microarray-based diagnostic algorithm | Borrego Burón, José Manuel |
| Sep-2017 | Genetic diagnosis of α1-antitrypsin deficiency using DNA from buccal swab and serum samples | Belmonte, Irene; Barrecheguren, Miriam; Esquinas López, Cristina; Rodríguez, Esther; Miravitlles Fernández, Marc; Rodríguez-Frías, Francisco |
| 2-Dec-2021 | Genome-Wide RNAi Screening Identifies Novel Pathways/Genes Involved in Oxidative Stress and Repurposable Drugs to Preserve Cystic Fibrosis Airway Epithelial Cell Integrity | Checa, Javier; Martínez González, Itziar; Maqueda, Maria; Mosquera, Jose Luis; Aran, Josep M. |
| 22-Mar-2023 | Improving hemorrhagic hereditary telangiectasia molecular diagnosis: a referral center experience | Aguilera, Cinthia; Padró i Miquel, Ariadna; Esteve Garcia, Anna; Cerdà, Pau; Torres Iglesias, Raquel; Llecha, Núria; Riera Mestre, Antoni |
| 1-Jan-2024 | New genetic drivers in hemorrhagic hereditary telangiectasia. | Cerdà, Pau; Castillo, Sandra D.; Aguilera, Cinthia; Iriarte, Adriana; Rocamora, José Luis; Larrinaga, Ane M.; Viñals Canals, Francesc; Graupera i Garcia-Milà, Mariona; Riera Mestre, Antoni |
| 29-Jan-2022 | Potential Involvement of NSD1, KRT24 and ACACA in the Genetic Predisposition to Colorectal Cancer | Quintana, Isabel; Mur, Pilar; Terradas, Mariona; García Mulero, Sandra; Aiza, Gemma; Navarro García, Matilde; Piñol, Virginia; Brunet, Joan; Moreno Aguado, Víctor; Sanz Pamplona, Rebeca; Capellá, G. (Gabriel); Valle, Laura |
| 23-Jan-2018 | Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition | Feliubadaló i Elorza, Maria Lídia; Salinas, Monica; IMPACT Study Collaborators |