Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
openAccess | | 4-mar-2022 | A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies | González del Pozo, María CSIC ORCID CVN; Fernández-Suárez, Elena CSIC ORCID; Bravo-Gil, Nereida CSIC; Méndez-Vidal, Cristina CSIC ORCID; Martín-Sánchez, Marta CSIC ORCID; Rodríguez-de-la-Rúa-Franch, Enrique; Ramos-Jiménez, Manuel; Morillo-Sánchez, María José; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCID | artículo |
openAccess | | 8-dic-2020 | A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification | Martín-Sánchez, Marta CSIC ORCID; Bravo-Gil, Nereida CSIC; González del Pozo, María CSIC ORCID CVN; Méndez-Vidal, Cristina CSIC ORCID; Fernández-Suárez, Elena CSIC ORCID; Rodríguez-de-la-Rúa-Franch, Enrique; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCID | artículo |
closedAccess | | feb-2014 | Aproximación genómica al diagnóstico genético de las distrofias hereditarias de retina y búsqueda de nuevos genes relacionados | González del Pozo, María CSIC ORCID CVN | tesis doctoral |
openAccess | | 2011 | Copy-number variations in EYS: a significant event in the appearance of arRP | Pieras, Juan Ignacio; Barragán, Isabel; Borrego, Salud CSIC ORCID; Audo, Isabelle; González del Pozo, María CSIC ORCID CVN; Bernal, Sara; Baiget, Montserrat; Zeitz, Christina; Bhattacharya, Shom Shanker CSIC ORCID; Antiñolo, Guillermo CSIC ORCID | artículo |
openAccess | | 21-jul-2023 | Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant | Fernández-Suárez, Elena CSIC ORCID; González del Pozo, María CSIC ORCID CVN; García-Núñez, Alejandro; Méndez-Vidal, Cristina CSIC ORCID; Martín-Sánchez, Marta CSIC ORCID; Mejías-Carrasco, José Manuel; Ramos-Jiménez, Manuel; Morillo-Sánchez, María José; Rodríguez-de-la-Rúa-Franch, Enrique; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCID | artículo |
openAccess | | 21-jul-2023 | Image1_Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant.PDF | Fernández-Suárez, Elena CSIC ORCID; González del Pozo, María CSIC ORCID CVN; García-Núñez, Alejandro; Méndez-Vidal, Cristina CSIC ORCID; Martín-Sánchez, Marta CSIC ORCID; Mejías-Carrasco, José Manuel; Ramos-Jiménez, Manuel; Morillo-Sánchez, María José; Rodríguez-de-la-Rúa-Franch, Enrique; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCID | dataset |
openAccess | | 1-abr-2016 | Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel | Bravo-Gil, Nereida CSIC; Méndez-Vidal, Cristina CSIC ORCID; Romero-Pérez, Laura CSIC ORCID; González del Pozo, María CSIC ORCID CVN; Rodríguez-de-la-Rúa-Franch, Enrique; Dopazo, Joaquín CSIC ORCID; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCID | artículo |
openAccess | | 2-dic-2011 | Mutation Screening of Multiple Genes in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa by Targeted Resequencing | González del Pozo, María CSIC ORCID CVN; Borrego, Salud CSIC ORCID; Barragán, Isabel; Pieras, Juan Ignacio; Santoyo-López, Javier; Matamala, Nerea; Naranjo, Belén CSIC ORCID; Dopazo, Joaquín CSIC ORCID; Antiñolo, Guillermo CSIC ORCID | artículo |
closedAccess | | 31-ago-2010 | Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa | Barragán, Isabel; Borrego, Salud CSIC ORCID; Pieras, Juan Ignacio; González del Pozo, María CSIC ORCID CVN; Mena, Marcela CSIC; Abd El-Aziz, Mai M.; Audo, Isabelle; Zeitz, Christina; Dopazo, Joaquín CSIC ORCID; Bhattacharya, Shom Shanker CSIC ORCID; Antiñolo, Guillermo CSIC ORCID | artículo |
openAccess | | 6-sep-2018 | Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing | González del Pozo, María CSIC ORCID CVN; Martín-Sánchez, Marta CSIC ORCID; Bravo-Gil, Nereida CSIC; Méndez-Vidal, Cristina CSIC ORCID; Chimenea, Ángel CSIC ORCID; Rodríguez-de-la-Rúa-Franch, Enrique; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCID | artículo |
openAccess | | 21-jul-2023 | Table1_Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant.XLSX | Fernández-Suárez, Elena CSIC ORCID; González del Pozo, María CSIC ORCID CVN; García-Núñez, Alejandro; Méndez-Vidal, Cristina CSIC ORCID; Martín-Sánchez, Marta CSIC ORCID; Mejías-Carrasco, José Manuel; Ramos-Jiménez, Manuel; Morillo-Sánchez, María José; Rodríguez-de-la-Rúa-Franch, Enrique; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCID | dataset |
openAccess | | 21-jul-2023 | Table2_Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant.PDF | Fernández-Suárez, Elena CSIC ORCID; González del Pozo, María CSIC ORCID CVN; García-Núñez, Alejandro; Méndez-Vidal, Cristina CSIC ORCID; Martín-Sánchez, Marta CSIC ORCID; Mejías-Carrasco, José Manuel; Ramos-Jiménez, Manuel; Morillo-Sánchez, María José; Rodríguez-de-la-Rúa-Franch, Enrique; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCID | dataset |
openAccess | | 21-jul-2023 | Table3_Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant.pdf | Fernández-Suárez, Elena CSIC ORCID; González del Pozo, María CSIC ORCID CVN; García-Núñez, Alejandro; Méndez-Vidal, Cristina CSIC ORCID; Martín-Sánchez, Marta CSIC ORCID; Mejías-Carrasco, José Manuel; Ramos-Jiménez, Manuel; Morillo-Sánchez, María José; Rodríguez-de-la-Rúa-Franch, Enrique; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCID | dataset |
openAccess | | 12-feb-2020 | Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants | González del Pozo, María CSIC ORCID CVN; Fernández-Suárez, Elena CSIC ORCID; Martín-Sánchez, Marta CSIC ORCID; Bravo-Gil, Nereida CSIC; Méndez-Vidal, Cristina CSIC ORCID; Rodríguez-de-la-Rúa-Franch, Enrique; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCID | artículo |
openAccess | | 3-feb-2017 | Unravelling the genetic basis of simplex Retinitis Pigmentosa cases | Bravo-Gil, Nereida CSIC; González del Pozo, María CSIC ORCID CVN; Martín-Sánchez, Marta CSIC ORCID; Méndez-Vidal, Cristina CSIC ORCID; Rodríguez-de-la-Rúa-Franch, Enrique; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCID | artículo |