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openAccess267Spanish.pdf.jpg13-Jan-2016267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic VariationDopazo, Joaquín; Rodríguez-Pérez, Juan Antonio CSIC ORCID; Daub, Josephine T.; Muntané, Gerard; Ruiz-Ferrer, Macarena; Méndez-Vidal, Cristina CSIC ORCID; Bhattacharya, Shom Shanker CSIC ORCID; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCIDartículo
openAccessgm363.pdf.jpg24-Aug-2012A map of human microRNA variation uncovers unexpectedly high levels of variabilityCarbonell, José; Alloza, Eva; Arce, Pablo; Borrego, Salud CSIC ORCID; Santoyo, Javier; Ruiz-Ferrer, Macarena; 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, Joaquínartículo
openAccessRetinal_Dystrophies.pdf.jpg8-Dec-2020A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes IdentificationMartín-Sánchez, Marta; Bravo-Gil, Nereida; González del Pozo, María; Méndez-Vidal, Cristina CSIC ORCID; Fernández-Suárez, Elena; Rodríguez de la Rúa, Enrique; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCIDartículo
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 CSIC ORCID; Borrego, Salud CSIC ORCIDartículo
closedAccessaccesoRestringido.pdf.jpg2011Aortopulmonary window with atrial septal defect: Prenatal diagnosis, management and outcomeÁlvarez, Rosa; García-Díaz, Lutgardo; Coserria, Félix; Hosseinpour, Reza; Antiñolo, Guillermo CSIC ORCIDartículo
closedAccessaccesoRestringido.pdf.jpg2012Association of X-linked hydrocephalus and Hirschsprung disease: Report of a new patient with a mutation in the L1CAM geneFernández, Raquel M.; Núñez-Torres, Rocío; García-Díaz, Lutgardo; Agustín, Juan Carlos de; Antiñolo, Guillermo CSIC ORCIDartículo
openAccessHirschsprung_Disease.pdf.jpg28-Nov-2020ChIP-Seq-Based Approach in Mouse Enteric Precursor Cells Reveals New Potential Genes with a Role in Enteric Nervous System Development and Hirschsprung DiseaseVillalba-Benito, Leticia; Torroglosa, Ana; Luzón-Toro, Berta; Fernández, Raquel M.; Moya-Jiménez, María José; Antiñolo, Guillermo CSIC ORCID; Borrego, Salud CSIC ORCIDartículo
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 CSIC ORCID; Borrego, Salud CSIC ORCIDartículo
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 CSIC ORCID; Borrego, Salud CSIC ORCIDartículo
openAccessarRP.pdf.jpg2011Copy-number variations in EYS: a significant event in the appearance of arRPPieras, Juan Ignacio; Barragán, Isabel; Borrego, Salud CSIC ORCID; Audo, Isabelle; González del Pozo, María; Bernal, Sara; Baiget, Montserrat; Zeitz, Christina; Bhattacharya, Shom Shanker CSIC ORCID; Antiñolo, Guillermo CSIC ORCIDartículo
closedAccessaccesoRestringido.pdf.jpgJan-2013Corrección intrauterina de mielomeningocele: Experiencia del programa de medicina y terapia fetal del Hospital Universitario Virgen del RocíoMarenco, M. L.; Márquez, J.; Ontanilla, Antonio; García-Díaz, Lutgardo; Rivero, M.; Losada, Antonio; Torrejón, R.; Sainz, J. A.; Antiñolo, Guillermo CSIC ORCIDartículo
openAccesshvr123.pdf.jpg2016Derivation of HVR1, HVR2 and HVR3 human embryonic stem cell lines from IVF embryos after preimplantation genetic diagnosis (PGD) for monogenic disorderHmadcha, Abdelkrim CSIC ORCID; Aguilera, Yolanda CSIC ORCID; Lozano-Arana, Maria Dolores; Mellado, Nuria; Perona, Javier S. CSIC ORCID ; Moya, Cristina; Sánchez-Palazón, Luis; Palacios Calvo, José CSIC ORCID; Antiñolo, Guillermo CSIC ORCID; Soria Escoms, Bernat CSIC ORCIDartículo
closedAccessFeb-2009Diagnosis and management of a large oropharyngeal teratoma (epignathus) in a twin pregnancyAntiñolo, Guillermo CSIC ORCID; Agustín, Juan Carlos de; Losada, Antonio; Ontanilla, Antonio; García Perla, Albertoartículo
openAccessenteric_nervous_system.pdf.jpg16-Nov-2017Dnmt3b knock-down in enteric precursors reveals a possible mechanism by which this de novo methyltransferase is involved in the enteric nervous system development and the onset of Hirschsprung diseaseTorroglosa, Ana; Villalba-Benito, Leticia; Fernández, Raquel M.; Moya-Jiménez, María José; Antiñolo, Guillermo CSIC ORCID; Borrego, Salud CSIC ORCIDartículo
openAccessijms-20-03123.pdf.jpg26-Jun-2019Epigenetic Mechanisms in Hirschsprung DiseaseTorroglosa, Ana; Villalba-Benito, Leticia; Luzón-Toro, Berta; Fernández, Raquel M.; Antiñolo, Guillermo CSIC ORCID; Borrego, Salud CSIC ORCIDartículo
closedAccessaccesoRestringido.pdf.jpg15-Sep-2016Epigenetics in ENS development and Hirschsprung diseaseTorroglosa, Ana; Alves, M. M.; Fernández, Raquel M.; Antiñolo, Guillermo CSIC ORCID; Hofstra, Robert MW; Borrego, Salud CSIC ORCIDartículo
openAccessfetal_cervical.pdf.jpg7-Oct-2020Ex-Utero Intrapartum Treatment (EXIT): indications and outcome in fetal cervical and oropharyngeal massesGarcía-Díaz, Lutgardo; Chimenea, Ángel; Agustín, Juan Carlos de; Pavón Delgado, Antonio; Antiñolo, Guillermo CSIC ORCIDartículo
openAccessExpanding_the_clinical_and_mutational_spectrum_of.57.pdf.jpgMar-2019Expanding the clinical and mutational spectrum of germline ABL1 mutations-associated syndrome. A case reportBravo-Gil, Nereida; Marcos Luque, Irene; González-Meneses, Antonio; Antiñolo, Guillermo CSIC ORCID; Borrego, Salud CSIC ORCIDartículo
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 CSIC ORCID; Borrego, Salud CSIC ORCIDartículo
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 CSIC ORCID; 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 CSIC ORCID; Antiñolo, Guillermo CSIC ORCIDartículo