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RightsPreviewIssue DateTitleAuthor(s)Type
openAccess267Spanish.pdf.jpg13-Jan-2016267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic VariationDopazo, Joaquín; Rodríguez-Pérez, Juan Antonio ; Daub, Josephine T.; Muntané, Gerard; Ruiz-Ferrer, Macarena; Méndez-Vidal, Cristina ; Bhattacharya, Shom Shanker ; Borrego, Salud ; Antiñolo, Guillermo artículo
openAccessgm363.pdf.jpg24-Aug-2012A map of human microRNA variation uncovers unexpectedly high levels of variabilityCarbonell, José; Alloza, Eva; Arce, Pablo; Borrego, Salud ; Santoyo, Javier; Ruiz-Ferrer, Macarena; Medina, Ignacio; Jiménez-Almazán, Jorge; Méndez-Vidal, Cristina ; González-del Pozo, María; Vela, Alicia; Bhattacharya, Shom Shanker ; Antiñolo, Guillermo ; Dopazo, Joaquínartículo
openAccessExp Ther Med Vol1 No6 Pg999.pdf.jpg26-Aug-2010A new experimental approach is required in the molecular analysis of intestinal neuronal dysplasia type B patientsSánchez-Mejías, Avencia; Fernández, Raquel M.; Antiñolo, Guillermo ; Borrego, Salud artículo
openAccesschromosome_21_scan_Jannoet.pdf.jpg6-May-2013Chromosome 21 Scan in Down Syndrome Reveals DSCAM as a Predisposing Locus in Hirschsprung DiseaseJannot, Anne-Sophie; Borrego, Salud ; Lyonnet, Stanislasartículo
openAccessjournal.pone.0036524.pdf.jpg2012Comprehensive analysis of NRG1 common and rare variants in hirschsprung patientsLuzón-Toro, Berta; Torroglosa, Ana; Núñez-Torres, Rocío; Enguix-Riego, María del Valle; Fernández, Raquel M.; Agustín, Juan Carlos de; Antiñolo, Guillermo ; Borrego, Salud artículo
openAccess1471-2350-12-138.pdf.jpg13-Oct-2011Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of eventsNúñez-Torres, Rocío; Fernández, Raquel M.; Acosta, Manuel Jesús; Enguix-Riego, María del Valle; Marbá, Martina; Agustín, Juan Carlos de; Castaño, Luis; Antiñolo, Guillermo ; Borrego, Salud artículo
openAccessarRP.pdf.jpg2011Copy-number variations in EYS: a significant event in the appearance of arRPPieras, Juan Ignacio; Barragán, Isabel; Borrego, Salud ; Audo, Isabelle; González del Pozo, María; Bernal, Sara; Baiget, Montserrat; Zeitz, Christina; Bhattacharya, Shom Shanker ; Antiñolo, Guillermo artículo
closedAccessaccesoRestringido.pdf.jpgFeb-2013Differential Gene Expression of Medullary Thyroid Carcinoma Reveals Specific Markers Associated with Genetic ConditionsMaliszewska, Agnieszka; Borrego, Salud ; Robledo, Mercedesartículo
closedAccessaccesoRestringido.pdf.jpg15-Sep-2016Epigenetics in ENS development and Hirschsprung diseaseTorroglosa, Ana; Alves, M. M.; Fernández, Raquel M.; Antiñolo, Guillermo ; Hofstra, Robert MW; Borrego, Salud artículo
openAccessjournal.pone.0023475.pdf.jpg12-Aug-2011Expression of PROKR1 and PROKR2 in Human Enteric Neural Precursor Cells and Identification of Sequence Variants Suggest a Role in HSCRRuiz-Ferrer, Macarena; Torroglosa, Ana; Núñez-Torres, Rocío; Agustín, Juan Carlos de; Antiñolo, Guillermo ; Borrego, Salud artículo
closedAccess5-Oct-2008EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosaAbd El-Aziz, Mai M.; Barragán, Isabel; O'Driscoll, Ciara A.; Goodstadt, Leo; Prigmore, Elena; Borrego, Salud ; Mena, Marcela; 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 ; Antiñolo, Guillermo artículo
openAccess1750-1172-7-103-S1.TIFF.jpg28-Dec-2012Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung¿s diseaseFernández, Raquel M.; Bleda, Marta; Núñez-Torres, Rocío; Medina, Ignacio; Luzón-Toro, Berta; García-Alonso, Luz; Torroglosa, Ana; Marbá, Martina; Enguix-Riego, María del Valle; Montaner, David; Antiñolo, Guillermo ; Dopazo, Joaquín; Borrego, Salud artículo
closedAccessaccesoRestringido.pdf.jpg2013Genetic Basis of Hirschsprung¿s DiseaseBorrego, Salud ; Ruiz-Ferrer, Macarena; Fernández, Raquel M.capítulo de libro
openAccesssrep21160.pdf.jpg16-Feb-2016Identification of different mechanisms leading to PAX6 down-regulation as potential events contributing to the onset of Hirschsprung diseaseEnguix-Riego, María del Valle; Torroglosa, Ana; Fernández, Raquel M.; Moya-Jiménez, María José; Agustín, Juan Carlos de; Antiñolo, Guillermo ; Borrego, Salud artículo
closedAccessaccesoRestringido.pdf.jpgAug-2010Identification of novel mutations in the ortholog of drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosaAbd El-Aziz, Mai M.; Barragán, Isabel; El-Ashry, Mohamed F.; Borrego, Salud ; Antiñolo, Guillermo ; Bhattacharya, Shom Shanker artículo
openAccesssrep23910.pdf.jpg1-Apr-2016Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panelBravo-Gil, Nereida; Méndez-Vidal, Cristina ; Romero-Pérez, Laura; González del Pozo, María; Rodríguez de la Rúa, Enrique; Dopazo, Joaquín; Borrego, Salud ; Antiñolo, Guillermo artículo
closedAccessaccesoRestringido.pdf.jpg2012MAX mutations cause hereditary and sporadic pheochromocytoma and paragangliomaBurnichón, Nelly; Borrego, Salud ; Ruiz-Ferrer, Macarena; Robledo, Mercedesartículo
openAccessjournal.pone.0027894.pdf.jpg2-Dec-2011Mutation Screening of Multiple Genes in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa by Targeted ResequencingGonzález del Pozo, María; Borrego, Salud ; Barragán, Isabel; Pieras, Juan Ignacio; Santoyo, Javier; Matamala, Nerea; Naranjo, Belén ; Dopazo, Joaquín; Antiñolo, Guillermo artículo
closedAccessaccesoRestringido.pdf.jpg31-Aug-2010Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosaBarragán, Isabel; Borrego, Salud ; Pieras, Juan Ignacio; González del Pozo, María; Mena, Marcela; Abd El-Aziz, Mai M.; Audo, Isabelle; Zeitz, Christina; Dopazo, Joaquín; Bhattacharya, Shom Shanker ; Antiñolo, Guillermo artículo
closedAccessFeb-2009Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 geneAlías, 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; Antiñolo, Guillermo ; Galán, Enrique; Rosa, Alberto L.; Fernández-Burriel, Miguel; Borrego, Salud ; Millán, José M.; Hernández-Chico, Concepción; Baiget, Montserrat; Tizzano, Eduardo F.artículo