Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
openAccess | | 13-ene-2016 | 267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation | Dopazo, Joaquín CSIC ORCID; Rodríguez-Pérez, Juan Antonio CSIC ORCID; Daub, Josephine T. CSIC ORCID; Muntané, Gerard CSIC ORCID; Ruiz-Ferrer, Macarena CSIC; Méndez-Vidal, Cristina CSIC ORCID; Bhattacharya, Shom Shanker CSIC ORCID; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCID | artículo |
openAccess | | 24-ago-2012 | A map of human microRNA variation uncovers unexpectedly high levels of variability | Carbonell, José; Alloza, Eva; Arce, Pablo; Borrego, Salud CSIC ORCID; Santoyo-López, Javier; Ruiz-Ferrer, Macarena CSIC; Medina, Ignacio; Jiménez-Almazán, Jorge; Méndez-Vidal, Cristina CSIC ORCID; González-del Pozo, María; Vela, Alicia; Bhattacharya, Shom Shanker CSIC ORCID; Antiñolo, Guillermo CSIC ORCID; Dopazo, Joaquín CSIC ORCID | artículo |
closedAccess | | 20-feb-2006 | Coenzyme Q is irreplaceable by demethoxy-coenzyme Q in plasma membrane of Caenorhabditis elegans | Arroyo, Antonio CSIC ORCID; Santos-Ocaña, Carlos CSIC ORCID ; Ruiz-Ferrer, Macarena CSIC; Padilla, Sergio; Gavilán, Angela; Rodríguez-Aguilera, Juan Carlos CSIC ORCID; Navas, Plácido 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 | | 2013 | Genetic Basis of Hirschsprung¿s Disease | Borrego, Salud CSIC ORCID; Ruiz-Ferrer, Macarena CSIC; Fernández, Raquel M. CSIC ORCID | capítulo de libro |
closedAccess | | 2012 | MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma | Burnichón, Nelly; Borrego, Salud CSIC ORCID; Ruiz-Ferrer, Macarena CSIC; Robledo, Mercedes | 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 |
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 |