RISalud
Institutional Health Repository of Andalucía
Browsing by Author Antiñolo, Guillermo
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| Preview | Title | Author(s) | Issue Date |
|---|---|---|---|
| 267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation. | Dopazo, Joaquín; Amadoz, Alicia; Bleda, Marta; Garcia-Alonso, Luz; Alemán, Alejandro; García-García, Francisco; Rodriguez, Juan A; Daub, Josephine T; Muntané, Gerard; Rueda, Antonio; Vela-Boza, Alicia; López-Domingo, Francisco J; Florido, Javier P; Arce, Pablo; Ruiz-Ferrer, Macarena; Méndez-Vidal, Cristina; Arnold, Todd E; Spleiss, Olivia; Alvarez-Tejado, Miguel; Navarro, Arcadi; Bhattacharya, Shomi S; Borrego, Salud; Santoyo-López, Javier; Antiñolo, Guillermo | 13-Jan-2016 | |
| A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies. | González-Del Pozo, María; Fernández-Suárez, Elena; Bravo-Gil, Nereida; Méndez-Vidal, Cristina; Martín-Sánchez, Marta; Rodríguez-de la Rúa, Enrique; Ramos-Jiménez, Manuel; Morillo-Sánchez, María José; Borrego, Salud; Antiñolo, Guillermo | 4-Mar-2022 | |
| A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification. | Martín-Sánchez, Marta; Bravo-Gil, Nereida; González-Del Pozo, María; Méndez-Vidal, Cristina; Fernández-Suárez, Elena; Rodríguez-de la Rúa, Enrique; Borrego, Salud; Antiñolo, Guillermo | 8-Dec-2020 | |
| A novel study of copy number variations in Hirschsprung disease using the multiple ligation-dependent probe amplification (MLPA) technique. | Núñez-Torres, Rocío; Fernández, Raquel M.; López-Alonso, Manuel; Antiñolo, Guillermo; Borrego, Salud | 19-Nov-2009 | |
| ChIP-Seq-Based Approach in Mouse Enteric Precursor Cells Reveals New Potential Genes with a Role in Enteric Nervous System Development and Hirschsprung Disease. | Villalba-Benito, Leticia; Torroglosa, Ana; Luzón-Toro, Berta; Fernández, Raquel María; Moya-Jiménez, María José; Antiñolo, Guillermo; Borrego, Salud | 28-Nov-2020 | |
| Comprehensive analysis of NRG1 common and rare variants in Hirschsprung patients. | Luzón-Toro, Berta; Torroglosa, Ana; Núñez-Torres, Rocío; Enguix-Riego, María Valle; Fernández, Raquel María; de Agustín, Juan Carlos; Antiñolo, Guillermo; Borrego, Salud | 4-May-2012 | |
| Comprehensive analysis of RET common and rare variant patientsin a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events | Nuñez-Torres, Rocio; Fernandez, Raquel M; Acosta, Manuel Jesus; Enguix-Riego, Maria del Valle; Marba, Martina; de Agustin, Juan Carlos; Castaño, Luis; Antiñolo, Guillermo; Borrego, Salud | 13-Oct-2011 | |
| CSVS, a crowdsourcing database of the Spanish population genetic variability | Peña-Chilet, María; Roldán, Gema; Perez-Florido, Javier; Ortuño, Francisco M.; Carmona, Rosario; Aquino, Virginia; Lopez-Lopez, Daniel; Loucera, Carlos; Fernandez-Rueda, Jose L.; Gallego, Asunción; García-Garcia, Francisco; González-Neira, Anna; Pita, Guillermo; Núñez-Torres, Rocío; Santoyo-López, Javier; Ayuso, Carmen; Minguez, Pablo; Avila-Fernandez, Almudena; Corton, Marta; Moreno-Pelayo, Miguel Ángel; Morin, Matías; Gallego-Martinez, Alvaro; Lopez-Escamez, Jose A.; Borrego, Salud; Antiñolo, Guillermo; Amigo, Jorge; Salgado-Garrido, Josefa; Pasalodos-Sanchez, Sara; Morte, Beatriz; Carracedo, Ángel; Alonso, Ángel; Dopazo, Joaquín | 29-Sep-2020 | |
| CSVS, a crowdsourcing database of the Spanish population genetic variability. | Peña-Chilet, María; Roldán, Gema; Perez-Florido, Javier; Ortuño, Francisco M; Carmona, Rosario; Aquino, Virginia; Lopez-Lopez, Daniel; Loucera, Carlos; Fernandez-Rueda, Jose L; Gallego, Asunción; García-Garcia, Francisco; González-Neira, Anna; Pita, Guillermo; Núñez-Torres, Rocío; Santoyo-López, Javier; Ayuso, Carmen; Minguez, Pablo; Avila-Fernandez, Almudena; Corton, Marta; Moreno-Pelayo, Miguel Ángel; Morin, Matías; Gallego-Martinez, Alvaro; Lopez-Escamez, Jose A; Borrego, Salud; Antiñolo, Guillermo; Amigo, Jorge; Salgado-Garrido, Josefa; Pasalodos-Sanchez, Sara; Morte, Beatriz; Spanish Exome Crowdsourcing Consortium; Carracedo, Ángel; Alonso, Ángel; Dopazo, Joaquín | 2021 | |
| Derivation of HVR1, HVR2 and HVR3 human embryonic stem cell lines from IVF embryos after preimplantation genetic diagnosis (PGD) for monogenic disorder. | Hmadcha, Abdelkrim; Aguilera, Yolanda; Lozano-Arana, Maria Dolores; Mellado, Nuria; Sánchez, Javier; Moya, Cristina; Sánchez-Palazón, Luis; Palacios, Jose; Antiñolo, Guillermo; Soria, Bernat | May-2016 | |
| Derivation of HVR1, HVR2 and HVR3 human embryonic stem cell lines from IVF embryos after preimplantation genetic diagnosis (PGD) for monogenic disorder. | Hmadcha, Abdelkrim; Aguilera, Yolanda; Lozano-Arana, Maria Dolores; Mellado, Nuria; Sánchez, Javier; Moya, Cristina; Sánchez-Palazón, Luis; Palacios, Jose; Antiñolo, Guillermo; Soria, Bernat | 31-Mar-2016 | |
| Epigenetic Mechanisms in Hirschsprung Disease. | Torroglosa, Ana; Villalba-Benito, Leticia; Luzón-Toro, Berta; Fernández, Raquel María; Antiñolo, Guillermo; Borrego, Salud | 26-Jun-2019 | |
| Ex-Utero Intrapartum Treatment (EXIT): indications and outcome in fetal cervical and oropharyngeal masses. | García-Díaz, Lutgardo; Chimenea, Angel; de Agustín, Juan Carlos; Pavón, Antonio; Antiñolo, Guillermo | 7-Oct-2020 | |
| Expanding the clinical and mutational spectrum of germline ABL1 mutations-associated syndrome: A case report. | Bravo-Gil, Nereida; Marcos, Irene; González-Meneses, Antonio; Antiñolo, Guillermo; Borrego, Salud | 2019 | |
| Expression of PROKR1 and PROKR2 in Human Enteric Neural Precursor Cells and Identification of Sequence Variants Suggest a Role in HSCR | Ruiz-Ferrer, Macarena.; Torroglosa, Ana.; Nuñez-Torres, Rocio.; de Agustín, Juan Carlos; Antiñolo, Guillermo; Borrego, Salud | 12-Aug-2011 | |
| G534E Variant in HABP2 and Nonmedullary Thyroid Cancer. | Ruiz-Ferrer, Macarena; Fernández, Raquel M; Navarro, Elena; Antiñolo, Guillermo; Borrego, Salud | 2016 | |
| Genome-wide analysis of DNA methylation in Hirschsprung enteric precursor cells: unraveling the epigenetic landscape of enteric nervous system development | Villalba-Benito, Leticia; López-López, Daniel; Torroglosa, Ana; Casimiro-Soriguer, Carlos S.; Luzón-Toro, Berta; Fernández, Raquel María; Moya-Jiménez, María José; Antiñolo, Guillermo; Dopazo, Joaquín; Borrego, Salud | 9-Mar-2021 | |
| Genome-wide analysis of DNA methylation in Hirschsprung enteric precursor cells: unraveling the epigenetic landscape of enteric nervous system development. | Villalba-Benito, Leticia; López-López, Daniel; Torroglosa, Ana; Casimiro-Soriguer, Carlos S; Luzón-Toro, Berta; Fernández, Raquel María; Moya-Jiménez, María José; Antiñolo, Guillermo; Dopazo, Joaquín; Borrego, Salud | 9-Mar-2021 | |
| Identification of different mechanisms leading to PAX6 down-regulation as potential events contributing to the onset of Hirschsprung disease. | Enguix-Riego, María Valle; Torroglosa, Ana; Fernández, Raquel María; Moya-Jiménez, María José; de Agustín, Juan Carlos; Antiñolo, Guillermo; Borrego, Salud | 16-Feb-2016 | |
| Identification of New Potential LncRNA Biomarkers in Hirschsprung Disease | Torroglosa, Ana; Villalba-Benito, Leticia; Fernández, Raquel María; Luzón-Toro, Berta; Moya-Jiménez, María José; Antiñolo, Guillermo; Borrego, Salud | 2-Aug-2020 |