Mostrando resultados 17 a 28 de 28
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Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
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 | | 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 |
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 | | ene-2020 | What is new about the genetic background of Hirschsprung disease? | Luzón-Toro, Berta CSIC; Villalba-Benito, Leticia CSIC; Torroglosa, Ana CSIC ORCID; Fernández, Raquel M. CSIC ORCID; Antiñolo, Guillermo CSIC ORCID; Borrego, Salud CSIC ORCID | artículo de revisión |