Mostrando resultados 21 a 40 de 67
< Anterior
Siguiente >
| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| openAccess |  | mar-2019 | Expanding the clinical and mutational spectrum of germline ABL1 mutations-associated syndrome. A case report | Bravo-Gil, Nereida CSIC; Marcos Luque, Irene CSIC; González-Meneses, Antonio; Antiñolo, Guillermo CSIC ORCID; Borrego, Salud 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; 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 |  | 12-ago-2011 | Expression of PROKR1 and PROKR2 in Human Enteric Neural Precursor Cells and Identification of Sequence Variants Suggest a Role in HSCR | Ruiz-Ferrer, Macarena CSIC; Torroglosa, Ana CSIC ORCID; Núñez-Torres, Rocío; Agustín, Juan Carlos de; Antiñolo, Guillermo CSIC ORCID; Borrego, Salud CSIC ORCID | artículo |
| closedAccess | | 5-oct-2008 | EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa | Abd El-Aziz, Mai M.; Barragán, Isabel; O'Driscoll, Ciara A.; Goodstadt, Leo; Prigmore, Elena; Borrego, Salud CSIC ORCID; Mena, Marcela CSIC; Pieras, Juan Ignacio; El-Ashry, Mohamed F.; Abu Safieh, Leen; Shah, Amna; Cheetham, Michael E.; Carter, Nigel P.; Chakarova, Christina; Ponting, Chris P.; Bhattacharya, Shom Shanker CSIC ORCID; Antiñolo, Guillermo CSIC ORCID | artículo |
| openAccess |  | 28-dic-2012 | Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung¿s disease | Fernández, Raquel M. CSIC ORCID; Bleda, Marta; Núñez-Torres, Rocío; Medina, Ignacio; Luzón-Toro, Berta CSIC; García-Alonso, Luz; Torroglosa, Ana CSIC ORCID; Marbá, Martina; Enguix-Riego, María del Valle; Montaner, David; Antiñolo, Guillermo CSIC ORCID; Dopazo, Joaquín CSIC ORCID; Borrego, Salud CSIC ORCID | artículo |
| openAccess |  | 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 CSIC; López-López, Daniel CSIC ORCID; Torroglosa, Ana CSIC ORCID; Casimiro-Soriguer, Carlos S. CSIC ORCID CVN; Luzón-Toro, Berta CSIC; Fernández, Raquel M. CSIC ORCID; Moya-Jiménez, María José; Antiñolo, Guillermo CSIC ORCID; Dopazo, Joaquín CSIC ORCID; Borrego, Salud CSIC ORCID | artículo |
| closedAccess |  | 2020 | Giant right atrial aneurysm. Prenatal diagnosis and outcome of a rare congenital abnormality | Chimenea, Ángel CSIC ORCID; García-Díaz, Lutgardo CSIC ORCID CVN; Moreno de las Heras, María; Coserria, Félix; Antiñolo, Guillermo CSIC ORCID | artículo |
| closedAccess |  | 2011 | Hemimegalencephaly: Prenatal diagnosis and outcome | Álvarez, R.M.; García-Díaz, Lutgardo CSIC ORCID CVN; Márquez, J.; Fajardo, M.; Rivas Infante, Eloy; García-Lozano, J. C.; Antiñolo, Guillermo CSIC ORCID | artículo |
| openAccess |  | 16-feb-2016 | Identification of different mechanisms leading to PAX6 down-regulation as potential events contributing to the onset of Hirschsprung disease | Enguix-Riego, María del Valle; Torroglosa, Ana CSIC ORCID; Fernández, Raquel M. CSIC ORCID; Moya-Jiménez, María José; Agustín, Juan Carlos de; Antiñolo, Guillermo CSIC ORCID; Borrego, Salud CSIC ORCID | artículo |
| openAccess |  | 2-ago-2020 | Identification of New Potential LncRNA Biomarkers in Hirschsprung Disease | Torroglosa, Ana CSIC ORCID; Villalba-Benito, Leticia CSIC; Fernández, Raquel M. CSIC ORCID; Luzón-Toro, Berta CSIC; Moya-Jiménez, María José; Antiñolo, Guillermo CSIC ORCID; Borrego, Salud CSIC ORCID | artículo |
| openAccess | | 1-may-2023 | Identification of Novel Candidate Genes for Familial Thyroid Cancer by Whole Exome Sequencing | Tous, Cristina CSIC ORCID; Muñoz-Redondo, Carmen; Bravo-Gil, Nereida CSIC; Gavilán, Ángela; Fernández, Raquel M. CSIC ORCID; Antiñolo, Juan; Navarro González, Elena CSIC ORCID; Antiñolo, Guillermo CSIC ORCID; Borrego, Salud CSIC ORCID | artículo |
| closedAccess |  | ago-2010 | Identification of novel mutations in the ortholog of drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosa | Abd El-Aziz, Mai M.; Barragán, Isabel; El-Ashry, Mohamed F.; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCID; Bhattacharya, Shom Shanker 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; 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; Rodríguez-de-la-Rúa-Franch, Enrique; Dopazo, Joaquín CSIC ORCID; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCID | artículo |
| openAccess |  | 2019 | Influencers on thyroid cancer onset: Molecular genetic basis | Luzón-Toro, Berta CSIC; Fernández, Raquel M. CSIC ORCID; Villalba-Benito, Leticia CSIC; Torroglosa, Ana CSIC ORCID; Antiñolo, Guillermo CSIC ORCID; Borrego, Salud CSIC ORCID | artículo |
| openAccess |  | 7-oct-2019 | LncRNA LUCAT1 as a novel prognostic biomarker for patients with papillary thyroid cancer | Luzón-Toro, Berta CSIC; Fernández, Raquel M. CSIC ORCID; Martos-Martínez, J. M.; Rubio-Manzanares-Dorado, M. CSIC ORCID; Antiñolo, Guillermo CSIC ORCID; Borrego, Salud CSIC ORCID | artículo |
| openAccess | | dic-2023 | Maternal and obstetric outcomes after Ex-Utero Intrapartum Treatment (EXIT): a single center experience | Domínguez-Moreno, Marta; Chimenea, Ángel CSIC ORCID; García-Díaz, Lutgardo CSIC ORCID CVN; Antiñolo, Guillermo CSIC ORCID | artículo |
| closedAccess |  | ene-2021 | Maternal effects induced by oral digoxin during treatment of fetal tachyarrhythmia: Case series and literature review | Chimenea, Ángel CSIC ORCID; García-Díaz, Lutgardo CSIC ORCID CVN; Méndez, Ana; Antiñolo, Guillermo CSIC ORCID | artículo |
| openAccess |  | 1-feb-2022 | Mode of delivery, perinatal outcome and neurodevelopment in uncomplicated monochorionic diamniotic twins: a single-center retrospective cohort study | Chimenea, Ángel CSIC ORCID; García-Díaz, Lutgardo CSIC ORCID CVN; 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; 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 |
