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Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
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 |
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; 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 |
closedAccess | | feb-2009 | Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene | Alías, Laura; Bernal, Sara; Fuentes Prior, Pablo; Barceló, María Jesús; Also, Eva; Martínez-Hernández, Rebeca; Rodríguez-Álvarez, Francisco J.; Martín, Yolanda; Aller, Elena; Grau, Elena; Peciña, Ana CSIC ORCID; Antiñolo, Guillermo CSIC ORCID; Galán, Enrique; Rosa, Alberto L.; Fernández-Burriel, Miguel; Borrego, Salud CSIC ORCID; Millán, José M.; Hernández-Chico, Concepción; Baiget, Montserrat; Tizzano, Eduardo F. | artículo |
openAccess | | 23-ene-2013 | Mutational Spectrum of Semaphorin 3A and Semaphorin 3D Genes in Spanish Hirschsprung patients | Luzón-Toro, Berta CSIC; Fernández, Raquel M. CSIC ORCID; Torroglosa, Ana CSIC ORCID; Agustín, Juan Carlos de; Méndez-Vidal, Cristina CSIC ORCID; Segura, Dolores Isabel; Antiñolo, Guillermo CSIC ORCID; Borrego, Salud CSIC ORCID | artículo |
openAccess | | 22-sep-2010 | Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region | Fernández, Raquel M. CSIC ORCID; Núñez-Torres, Rocío; González-Meneses, Antonio; Antiñolo, Guillermo CSIC ORCID; Borrego, Salud CSIC ORCID | artículo |
closedAccess | | sep-2022 | Novel BEST1 mutations and clinical characteristics of autosomal recessive bestrophinopathy in a Spanish patient | Soto-Sierra, Marina; Morillo-Sánchez, María José; Martín-Sánchez, Marta CSIC ORCID; Ramos-Jiménez, Manuel; López-Domínguez, Mireia; Ponte-Zuñiga, Beatriz; Antiñolo, Guillermo CSIC ORCID; Rodríguez-de-la-Rúa-Franch, Enrique | artículo |
openAccess | | 11-may-2010 | Novel MLPA procedure using self-designed probes allows comprehensive analysis for CNVs of the genes involved in Hirschsprung disease | Sánchez-Mejías, Avencia; Núñez-Torres, Rocío; Fernández, Raquel M. CSIC ORCID; Antiñolo, Guillermo CSIC ORCID; Borrego, Salud CSIC ORCID | artículo |
closedAccess | | 2011 | Novel mutations at RET ligand genes preventing receptor activation are associated to Hirschsprung¿s disease | Ruiz-Ferrer, Macarena CSIC; Torroglosa, Ana CSIC ORCID; Luzón-Toro, Berta CSIC; Fernández, Raquel M. CSIC ORCID; Antiñolo, Guillermo CSIC ORCID; Mulligan, Lois M.; Borrego, Salud CSIC ORCID | artículo |
closedAccess | | ene-2009 | A novel point variant in NTRK3, R645C, suggests a role of this gene in the pathogenesis of Hirschsprung disease | Fernández, Raquel M. CSIC ORCID; Sánchez-Mejías, Avencia; Mena, Marcela CSIC; Ruiz-Ferrer, Macarena CSIC; López-Alonso, Manuel; Antiñolo, Guillermo CSIC ORCID; Borrego, Salud CSIC ORCID | artículo |
closedAccess | | 17-jul-2008 | NTF-3, a gene involved in the enteric nervous system development, as a candidate gene for Hirschsprung disease | Ruiz-Ferrer, Macarena CSIC; Fernández, Raquel M. CSIC ORCID; Antiñolo, Guillermo CSIC ORCID; López-Alonso, Manuel; Borrego, Salud CSIC ORCID | artículo |
openAccess | | 24-jul-2017 | Overexpression of DNMT3b target genes during Enteric Nervous System development contribute to the onset of Hirschsprung disease | Villalba-Benito, Leticia CSIC; Torroglosa, Ana CSIC ORCID; Fernández, Raquel M. CSIC ORCID; Ruiz-Ferrer, Macarena CSIC; Moya-Jiménez, María José; Antiñolo, Guillermo CSIC ORCID; Borrego, Salud CSIC ORCID | artículo |
openAccess | | 2-dic-2013 | Pathways systematically associated to Hirschsprung's disease | Fernández, Raquel M. CSIC ORCID; Bleda, Marta; Luzón-Toro, Berta CSIC; García-Alonso, Luz; Arnold, Stacey; Sribudiani, Yunia; Besmond, Claude; Lantieri, Francesca; Doan, Betty; Ceccherini, Isabella; Lyonnet, Stanislas; Hofstra, Robert MW; Chakravarti, Aravinda; Antiñolo, Guillermo CSIC ORCID; Dopazo, Joaquín CSIC ORCID; Borrego, Salud CSIC ORCID | artículo |
closedAccess | | 28-oct-2008 | Polymorphisms in the genes encoding the 4 RET ligands, GDNF, NTN, ARTN, PSPN, and susceptibility to Hirschsprung disease | Fernández, Raquel M. CSIC ORCID; Ruiz-Ferrer, Macarena CSIC; López-Alonso, Manuel; Antiñolo, Guillermo CSIC ORCID; Borrego, Salud CSIC ORCID | artículo |
openAccess | | 14-nov-2017 | Preimplantation Genetic Diagnosis for Myotonic Dystrophy Type 1 and Analysis of the Effect of the Disease on the Reproductive Outcome of the Affected Female Patients | Fernández, Raquel M. CSIC ORCID; Lozano-Arana, Maria Dolores CSIC; Sánchez-Andújar, Beatriz CSIC; Peciña, Ana CSIC ORCID; García-Lozano, J. C.; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCID | artículo |
closedAccess | | mar-2023 | Prenatal diagnosis of VACTERL association after early-first trimester SARS-COV-2 infection | Chimenea, Ángel CSIC ORCID; García-Díaz, Lutgardo CSIC ORCID CVN; Calderón, Ana María; Antiñolo, Guillermo CSIC ORCID | artículo |
openAccess | | 2012 | Prenatal management and outcome of junctional ectopic tachycardia and hydrops | García-Díaz, Lutgardo CSIC ORCID CVN; Coserria, Félix; Costa-Pereira, Susana; Antiñolo, Guillermo CSIC ORCID | artículo |
openAccess | | 28-jul-2012 | Prenatal management and perinatal outcome in giant placental chorioangioma complicated with hydrops fetalis, fetal anemia and maternal mirror syndrome | García-Díaz, Lutgardo CSIC ORCID CVN; Carreto, Práxedes; Costa-Pereira, Susana; Antiñolo, Guillermo CSIC ORCID | artículo |
openAccess | | 6-abr-2018 | Resolution of maternal Mirror syndrome after succesful fetal intrauterine therapy: a case series | Chimenea, Ángel CSIC ORCID; García-Díaz, Lutgardo CSIC ORCID CVN; Calderón, Ana María; Moreno de las Heras, María; 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; 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 |
closedAccess | | 2011 | Somatic mosaicism for Y120X mutation in the MECP2 gene causes atypical Rett syndrome in a male | Pieras, Juan Ignacio; Muñoz-Cabello, Beatriz; Borrego, Salud CSIC ORCID; Marcos Luque, Irene CSIC; Perona, Javier S. CSIC ORCID ; Madruga, Marcos CSIC; Antiñolo, Guillermo CSIC ORCID | artículo |