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Listar por autor "Antiñolo Gil, Guillermo"
Mostrando ítems 21-40 de 60
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Tesis Doctoral
Evolución de los neonatos afectos de hernia diafragmática congénita de riesgo intermedio nacidos mediante EXIT (ex-utero intrapartum treatmeant)
Barrera Talavera, María Dolores (2022-10-13)La hernia diafragmática congénita (HDC) es una patología que afecta a 1 de cada 3000 recién nacidos. El realizar un correcto ...
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Artículo
Ex-Utero Intrapartum Treatment (EXIT): indications and outcome in fetal cervical and oropharyngeal masses
García Díaz, Lutgardo; Agustín, Juan Carlos de; Pavón, Antonio; Antiñolo Gil, Guillermo (Springer Nature, 2020)Background: The “Ex-Utero Intrapartum Treatment” (EXIT) procedure allows to ensure fetal airway before completion of ...
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EXIT procedure in twin pregnancy: a series of three cases from a single center
García Díaz, Lutgardo; Agustín, Juan Carlos de; Ontanilla, Antonio; Marenco, María Luisa; Pavón, Antonio; Losada, Antonio; Antiñolo Gil, Guillermo (BMC, 2014-07-30)Background: Indications for the ex utero intrapartum therapy (EXIT) procedure have evolved and nowadays in addition to ...
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Exome Sequencing Reveals Novel and Recurrent Mutations with Clinical Significance in Inherited Retinal Dystrophies
González del Pozo, María; Méndez-Vidal, Cristina; Bravo-Gil, Nereida; Vela-Boza, Alicia; Dopazo, Joaquín; Borrego, Salud; Antiñolo Gil, Guillermo (Public Library of Science, 2014)This study aimed to identify the underlying molecular genetic cause in four Spanish families clinically diagnosed of ...
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Experience of Preimplantation Genetic Diagnosis for Hemophilia at the University Hospital Virgen Del Rocío in Spain: Technical and Clinical Overview
Fernández, Raquel María; Peciña, Ana; Sánchez, Beatriz; Lozano Arana, María Dolores; García-Lozano, Juan Carlos; Pérez Garrido, Rosario; Antiñolo Gil, Guillermo (Hindawi Publishing Corporation, 2015)Hemophilia A and B are themost common hereditary hemorrhagic disorders, with an X-linked mode of inheritance. Reproductive options ...
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Experience of Preimplantation Genetic Diagnosis with HLA Matching at the University Hospital Virgen del Rocío in Spain: Technical and Clinical Overview
Fernández, Raquel María; Peciña, Ana; Lozano Arana, María Dolores; Sánchez, Beatriz; Guardiola, Jordi; García-Lozano, Juan Carlos; Antiñolo Gil, Guillermo (Hindawi, 2014)Preimplantation genetic diagnosis (PGD) of genetic diseases, combined with HLA matching (PGD-HLA), is an option for ...
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Artículo
Expression of PROKR1 and PROKR2 in Human Enteric Neural Precursor Cells and Identification of Sequence Variants Suggest a Role in HSCR
Ruiz Ferrer, Macarena; Torroglosa, Ana; Núñez-Torres, Rocío; Agustín, Juan Carlos de; Antiñolo Gil, Guillermo; Borrego, Salud (Public Library of Science, 2011-08-12)Background: The enteric nervous system (ENS) is entirely derived from neural crest and its normal development is regulated by ...
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Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung’s disease
Fernández, Raquel María; Bleda, Marta; Núñez-Torres, Rocío; Medina, Ignacio; Luzón-Toro, Berta; García-Alonso, Luz; Antiñolo Gil, Guillermo; Borrego, Salud (Springer Nature, 2012-12-28)Finding gene associations in rare diseases is frequently hampered by the reduced numbers of patients accessible. Conventional ...
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Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
Perea-Romero, Irene; Gordo, Gema; Iancu, Ionut F.; Del Pozo-Valero, Marta; Almoguera, Berta; Blanco-Kelly, Fiona; Antiñolo Gil, Guillermo; Ayuso, Carmen (2021)Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors, are disorders characterized ...
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Tesis Doctoral
Genética molecular de la retinosis pigmentaria autosómica recesiva. Análisis de ligamiento genómico e identificación y evaluación de posibles genes responsables.
Barragán Mallofret, María Isabel (2007) -
Artículo
Genome-wide analysis of DNA methylation in Hirschsprung enteric precursor cells: unraveling the epigenetic landscape of enteric nervous system development
Villalba-Benito, Leticia; López-López, Daniel; Torroglosa, Ana; Casimiro-Soriguer, Carlos S.; Luzón-Toro, Berta; Fernández, Raquel María; Moya-Jiménez, María José; Antiñolo Gil, Guillermo; Dopazo, Joaquín; Borrego, Salud (BMC, 2021)Background: Hirschsprung disease (HSCR, OMIM 142623) is a rare congenital disorder that results from a failure to fully ...
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Tesis Doctoral
Gestación gemelar monocorial. Terapia fetal, resultados perinatales y valoración del neurodesarrollo postnatal
Chimenea Toscano, Ángel (2021-05-21)Además de las complicaciones propias derivadas de la gemelaridad (prematuridad, rotura prematura de membranas), los gemelos ...
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Hypertrophic Cardiomyopathy due to Mitochondrial Disease: Prenatal Diagnosis, Management, and Outcome
García Díaz, Lutgardo; Coserria Sánchez, José Félix; Antiñolo Gil, Guillermo (Hindawi, 2012)A case of prenatally diagnosed fetal hypertrophic cardiomyopathy is reported. The mother was referred to our department ...
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Identification of a PROM1 mutation in a Spanish family with inherited retinal dystrophies
Llavero-Valero, Pilar; Morillo-Sánchez, María José; Bravo-Gil, Nereida; Jiménez, Manuel Ramos; Ponte-Zuñiga, Beatriz; López-Domínguez, Mireia; Antiñolo Gil, Guillermo; Rodríguez de la Rúa Franch, Enrique (Bentham Open, 2021)Background: We report a Spanish family, comprising an affected mother and daughter, respectively diagnosed with retinitis ...
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Identification of different mechanisms leading to PAX6 down-regulation as potential events contributing to the onset of Hirschsprung disease
Enguix Riego, María del Valle; Torroglosa, Ana; Fernández García, Raquel María; Moya Jiménez, María José; Agustín, Juan Carlos de; Antiñolo Gil, Guillermo; Borrego López, Salud (2016-02-16)Hirschsprung disease (HSCR) is attributed to a failure of neural crest derived cells to migrate, proliferate, differentiate ...
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Tesis Doctoral
Implementación de técnicas de secuenciación masiva para el desarrollo de nuevos algoritmos diagnósticos y bioinformáticos en distrófias hereditarias de retina
Bravo Gil, Nereida Inés (2016-12-05)Las distrofias hereditarias de retina (DHR) son un conjunto de enfermedades degenerativas y, generalmente, progresivas que ...
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Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel
Bravo Gil, Nereida Inés; Méndez Vidal, Cristina; Romero Pérez, Laura; González del Pozo, María; Rodríguez de la Rúa Franch, Enrique; Dopazo, Joaquín; Antiñolo Gil, Guillermo (Springer Nature, 2016)Next-generation sequencing (NGS) has overcome important limitations to the molecular diagnosis of Inherited Retinal ...
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Influencers on thyroid cancer onset: molecular genetic basis
Luzón-Toro, Berta; Fernández, Raquel; Villalba Benito, Leticia; Torroglosa, Ana; Antiñolo Gil, Guillermo; Borrego, Salud (2019-11-08)Thyroid cancer, a cancerous tumor or growth located within the thyroid gland, is the most common endocrine cancer. It is ...
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Listeriosis outbreak caused by contaminated stuffed pork, Andalusia, Spain, July to October 2019
Fernández Martínez, Nicolás Francisco; Ruiz Montero, Rafael; Briones, Eduardo; Baños, Elena; García San Miguel Rodríguez-Alarcón, Lucía; Chaves, J. Alberto; Abad, Raquel; Varela, Carmen; Lorusso, Nicola; Antiñolo Gil, Guillermo; López Márquez, María Reyes (European Centre for Disease Prevention and Control, 2022-10-27)Between 1 July and 26 October 2019 in Andalusia, Spain, a large outbreak with 207 confirmed cases of listeriosis was ...
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Mode of delivery, perinatal outcome and neurodevelopment in uncomplicated monochorionic diamniotic twins: a single-center retrospective cohort study
Chimenea Toscano, Ángel; García Díaz, Lutgardo; Antiñolo Gil, Guillermo (Biomed Central LTD, 2022)Background There is no agreement on the effect of planned mode of delivery in the perinatal morbidity and neurodevelopment ...