idUS - Author profile: Antiñolo Gil, Guillermo

Name	Antiñolo Gil, Guillermo
Department	Cirugía
Knowledge area	Obstetricia y Ginecología
Professional category	Catedrático de Universidad (Pza. V.)
E-mail	Request

No. publications
56
No. visits
5086
No. downloads
10698

Typology

Sort

Publications
Article Listeriosis outbreak caused by contaminated stuffed pork, Andalusia, Spain, July to October 2019Listeriosis outbreak caused by contaminated stuffed pork, Andalusia, Spain, July to October 2019 Fernández Martínez, Nicolás Francisco; Fernández Martínez, Nicolás Francisco; Ruiz Montero, Rafael; Ruiz Montero, Rafael; Briones, Eduardo; Briones, Eduardo; Baños, Elena; Baños, Elena; García San Miguel Rodríguez-Alarcón, Lucía; García San Miguel Rodríguez-Alarcón, Lucía; Chaves, J. Alberto; Chaves, J. Alberto; Abad, Raquel; Abad, Raquel; Varela, Carmen; Varela, Carmen; Lorusso, Nicola; Lorusso, Nicola; Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo; López Márquez, María Reyes; 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 ...
PhD Thesis Evolución de los neonatos afectos de hernia diafragmática congénita de riesgo intermedio nacidos mediante EXIT (ex-utero intrapartum treatmeant)Evolución de los neonatos afectos de hernia diafragmática congénita de riesgo intermedio nacidos mediante EXIT (ex-utero intrapartum treatmeant) Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo; García Díaz, Lutgardo; García Díaz, Lutgardo; Congregado Loscertales, Miguel; Congregado Loscertales, Miguel; Barrera Talavera, María Dolores; 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 ...
Article A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophiesA comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies González del Pozo, María; González del Pozo, María; Fernández Suárez, Elena; Fernández Suárez, Elena; Bravo Gil, Nereida Inés; Bravo Gil, Nereida Inés; Méndez Vidal, Cristina; Méndez Vidal, Cristina; Martín Sánchez, Marta; Martín Sánchez, Marta; Rodríguez de la Rúa Franch, Enrique; Rodríguez de la Rúa Franch, Enrique; Ramos Jiménez, Manuel; Ramos Jiménez, Manuel; Morillo Sánchez, María José; Morillo Sánchez, María José; Borrego, Salud; Borrego, Salud; Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo (Nature Portfolio, 2022-01-01) To enhance the use of Whole Genome Sequencing (WGS) in clinical practice, it is still necessary to standardize data analysis ...
Article Mode of delivery, perinatal outcome and neurodevelopment in uncomplicated monochorionic diamniotic twins: a single-center retrospective cohort studyMode of delivery, perinatal outcome and neurodevelopment in uncomplicated monochorionic diamniotic twins: a single-center retrospective cohort study Chimenea Toscano, Ángel; Chimenea Toscano, Ángel; García Díaz, Lutgardo; García Díaz, Lutgardo; Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo (Biomed Central LTD, 2022-01-01) Background There is no agreement on the effect of planned mode of delivery in the perinatal morbidity and neurodevelopment ...
PhD Thesis Gestación gemelar monocorial. Terapia fetal, resultados perinatales y valoración del neurodesarrollo postnatalGestación gemelar monocorial. Terapia fetal, resultados perinatales y valoración del neurodesarrollo postnatal Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo; García Díaz, Lutgardo; García Díaz, Lutgardo; Chimenea Toscano, Ángel; Chimenea Toscano, Ángel (2021-05-21) Además de las complicaciones propias derivadas de la gemelaridad (prematuridad, rotura prematura de membranas), los gemelos ...
Article Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implicationsGenetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications Perea-Romero, Irene; Perea-Romero, Irene; Gordo, Gema; Gordo, Gema; Iancu, Ionut F.; Iancu, Ionut F.; Del Pozo-Valero, Marta; Del Pozo-Valero, Marta; Almoguera, Berta; Almoguera, Berta; Blanco-Kelly, Fiona; Blanco-Kelly, Fiona; Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo; Ayuso, Carmen; Ayuso, Carmen (2021-01-01) Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors, are disorders characterized ...
Article RMRP, RMST, FTX and IPW: novel potential long non-coding RNAs in medullary thyroid cancerRMRP, RMST, FTX and IPW: novel potential long non-coding RNAs in medullary thyroid cancer Luzón-Toro, Berta; Luzón-Toro, Berta; Villalba Benito, Leticia; Villalba Benito, Leticia; Fernández, Raquel María; Fernández, Raquel María; Torroglosa, Ana; Torroglosa, Ana; Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo; Borrego, Salud; Borrego, Salud (BIOMED CENTRAL LTD, 2021-01-01) The relevant role of long non-coding RNAs (lncRNAs) in cancer is currently a matter of increasing interest. Medullary ...
Article Diagnóstico prenatal de atresia de yeyuno con ecografía 3D con reconstrucción en superficie (HDlive): reporte de caso y revisión de la literaturaDiagnóstico prenatal de atresia de yeyuno con ecografía 3D con reconstrucción en superficie (HDlive): reporte de caso y revisión de la literatura Chimenea-Toscano, Ángel; Chimenea-Toscano, Ángel; García Díaz, Lutgardo; García Díaz, Lutgardo; Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo (Federación Colombiana de Obstetricia y Ginecología (FECOLSOG), 2021-01-01) Objetivos: reportar el caso de una paciente con diagnóstico prenatal de atresia de yeyuno y hacer una revisión de la ...
Article CSVS, a crowdsourcing database of the Spanish population genetic variabilityCSVS, a crowdsourcing database of the Spanish population genetic variability Peña-Chilet, María; Peña-Chilet, María; Roldán, Gema; Roldán, Gema; Perez-Florido, Javier; Perez-Florido, Javier; Ortuño, Francisco M.; Ortuño, Francisco M.; Carmona, Rosario; Carmona, Rosario; Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo; Dopazo, Joaquín; Dopazo, Joaquín (OXFORD UNIV PRESS, 2021-01-01) The knowledge of the genetic variability of the local population is of utmost importance in personalized medicine and has ...
Article Unusual clinical phenotype of Stargardt diseaseUnusual clinical phenotype of Stargardt disease Molina-Solana, Pedro; Molina-Solana, Pedro; Morillo-Sánchez, María José; Morillo-Sánchez, María José; Méndez-Vidal, Cristina; Méndez-Vidal, Cristina; Ramos-Jiménez, Manuel; Ramos-Jiménez, Manuel; Domínguez-Serrano, Borja; Domínguez-Serrano, Borja; Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo; Rodríguez de la Rúa Franch, Enrique; Rodríguez de la Rúa Franch, Enrique (2021-01-01) Mutations in the ABCA4 gene are a common cause of Stargardt disease; however, other retinal phenotypes have also been ...
Article Genome-wide analysis of DNA methylation in Hirschsprung enteric precursor cells: unraveling the epigenetic landscape of enteric nervous system developmentGenome-wide analysis of DNA methylation in Hirschsprung enteric precursor cells: unraveling the epigenetic landscape of enteric nervous system development Villalba-Benito, Leticia; Villalba-Benito, Leticia; López-López, Daniel; López-López, Daniel; Torroglosa, Ana; Torroglosa, Ana; Casimiro-Soriguer, Carlos S.; Casimiro-Soriguer, Carlos S.; Luzón-Toro, Berta; Luzón-Toro, Berta; Fernández, Raquel María; Fernández, Raquel María; Moya-Jiménez, María José; Moya-Jiménez, María José; Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo; Dopazo, Joaquín; Dopazo, Joaquín; Borrego, Salud; Borrego, Salud (BMC, 2021-01-01) Background: Hirschsprung disease (HSCR, OMIM 142623) is a rare congenital disorder that results from a failure to fully ...
Article Identification of a PROM1 mutation in a Spanish family with inherited retinal dystrophiesIdentification of a PROM1 mutation in a Spanish family with inherited retinal dystrophies Llavero-Valero, Pilar; Llavero-Valero, Pilar; Morillo-Sánchez, María José; Morillo-Sánchez, María José; Bravo-Gil, Nereida; Bravo-Gil, Nereida; Jiménez, Manuel Ramos; Jiménez, Manuel Ramos; Ponte-Zuñiga, Beatriz; Ponte-Zuñiga, Beatriz; López-Domínguez, Mireia; López-Domínguez, Mireia; Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo; Rodríguez de la Rúa Franch, Enrique; Rodríguez de la Rúa Franch, Enrique (Bentham Open, 2021-01-01) Background: We report a Spanish family, comprising an affected mother and daughter, respectively diagnosed with retinitis ...
Article Influencers on thyroid cancer onset: molecular genetic basisInfluencers on thyroid cancer onset: molecular genetic basis Luzón-Toro, Berta; Luzón-Toro, Berta; Fernández, Raquel; Fernández, Raquel; Villalba Benito, Leticia; Villalba Benito, Leticia; Torroglosa, Ana; Torroglosa, Ana; Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo; Borrego, Salud; 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 ...
Article Epigenetic Mechanisms in Hirschsprung DiseaseEpigenetic Mechanisms in Hirschsprung Disease Torroglosa, Ana; Torroglosa, Ana; Villalba Benito, Leticia; Villalba Benito, Leticia; Luzón-Toro, Berta; Luzón-Toro, Berta; Fernández García, Raquel María; Fernández García, Raquel María; Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo; Borrego López, Salud; Borrego López, Salud (MDPI, 2019-06-26) Hirschsprung disease (HSCR, OMIM 142623) is due to a failure of enteric precursor cells derived from neural crest (EPCs) ...
PhD Thesis Desarrollo de algoritmos diagnósticos en distrofias hereditarias de retina y su aplicación para la identificación de nuevas regiones candidatasDesarrollo de algoritmos diagnósticos en distrofias hereditarias de retina y su aplicación para la identificación de nuevas regiones candidatas Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo; Martín Sánchez, Marta; Martín Sánchez, Marta (2019-06-25)
Article Preimplantation Genetic Diagnosis for Myotonic Dystrophy Type 1 and Analysis of the Effect of the Disease on the Reproductive Outcome of the Affected Female PatientsPreimplantation 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 María; Fernández, Raquel María; Lozano Arana, María Dolores; Lozano Arana, María Dolores; Sánchez, Beatriz; Sánchez, Beatriz; Peciña, Ana; Peciña, Ana; García-Lozano, Juan Carlos; García-Lozano, Juan Carlos; Borrego, Salud; Borrego, Salud; Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo (Hindawi, 2017-11-14) Myotonic dystrophy type 1 (DM1) is the most common adult muscular dystrophy and presents an autosomal dominant inheritance. ...
Article The utility of Next Generation Sequencing for molecular diagnostics in Rett syndromeThe utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome Vidal, Silvia; Vidal, Silvia; Brandi, Núria; Brandi, Núria; Pacheco, Paola; Pacheco, Paola; Gerotina, Edgar; Gerotina, Edgar; Blasco, L.; Blasco, L.; Trotta, Jean Rémi; Trotta, Jean Rémi; Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo (Nature Research, 2017-09-25) Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that almost exclusively affects girls and is totally ...
PhD Thesis Valor predictivo de la sobreexpresión inmunohistoquímica de la proteína p16 (ink4a) como marcador de progresión en neoplasias uterinas cervicales escamosas intraepiteliales de bajo grado (l-sil)Valor predictivo de la sobreexpresión inmunohistoquímica de la proteína p16 (ink4a) como marcador de progresión en neoplasias uterinas cervicales escamosas intraepiteliales de bajo grado (l-sil) Toro Salas, Antonio de; Toro Salas, Antonio de; Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo; Torrejón Cardoso, Rafael; Torrejón Cardoso, Rafael; García Lancha, Luis Carlos; García Lancha, Luis Carlos (2017-09-15) Desde que se introdujeron los programas de cribado poblacional para la detección precoz de las lesiones cervicales ha ...
Article Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genesWhole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes Gui, Hongsheng; Gui, Hongsheng; Schriemer, Duco; Schriemer, Duco; Cheng, William W.; Cheng, William W.; Chauhan, Rajendra K.; Chauhan, Rajendra K.; Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo; Berrios, Courtney; Berrios, Courtney; Hofstra, Robert M. W.; Hofstra, Robert M. W. (BioMed Central Ltd., 2017-03-08) Background: Hirschsprung disease (HSCR), which is congenital obstruction of the bowel, results from a failure of enteric ...
Article Dnmt3b 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 diseaseDnmt3b 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 disease Torroglosa, Ana; Torroglosa, Ana; Villalba Benito, Leticia; Villalba Benito, Leticia; Fernández, Raquel; Fernández, Raquel; Moya Jiménez, María José; Moya Jiménez, María José; Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo; Borrego López, Salud; Borrego López, Salud (Impact Journals, 2017-01-01) Hirschsprung disease (HSCR, OMIM 142623) is a pathology that shows a lack of enteric ganglia along of the distal ...
Article Unravelling the genetic basis of simplex Retinitis Pigmentosa casesUnravelling the genetic basis of simplex Retinitis Pigmentosa cases Bravo Gil, Nereida Inés; Bravo Gil, Nereida Inés; González del Pozo, María; González del Pozo, María; Martín Sánchez, Marta; Martín Sánchez, Marta; Méndez Vidal, Cristina; Méndez Vidal, Cristina; Rodríguez de la Rúa Franch, Enrique; Rodríguez de la Rúa Franch, Enrique; Borrego López, Salud; Borrego López, Salud; Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo (Nature Publishing Group, 2017-01-01) Retinitis Pigmentosa (RP) is the most common form of inherited retinal dystrophy (IRD) characterized ultimately by ...
PhD Thesis Implementación de técnicas de secuenciación masiva para el desarrollo de nuevos algoritmos diagnósticos y bioinformáticos en distrófias hereditarias de retinaImplementación de técnicas de secuenciación masiva para el desarrollo de nuevos algoritmos diagnósticos y bioinformáticos en distrófias hereditarias de retina Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo; Bravo Gil, Nereida Inés; Bravo Gil, Nereida Inés (2016-12-05) Las distrofias hereditarias de retina (DHR) son un conjunto de enfermedades degenerativas y, generalmente, progresivas que ...
Article Co-segregation of a homozygous SMN1 deletion and a heterozygous PMP22 duplication in a patientCo-segregation of a homozygous SMN1 deletion and a heterozygous PMP22 duplication in a patient Fernández, Raquel María; Fernández, Raquel María; Peciña, Ana; Peciña, Ana; Muñoz-Cabello, Beatriz; Muñoz-Cabello, Beatriz; Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo; Borrego, Salud; Borrego, Salud (Wiley Open Access, 2016-07-03) Despite co-segregation of two different genetic neurological disorders within a family is rare, clinicians should take ...
Article Identification of different mechanisms leading to PAX6 down-regulation as potential events contributing to the onset of Hirschsprung diseaseIdentification of different mechanisms leading to PAX6 down-regulation as potential events contributing to the onset of Hirschsprung disease Enguix Riego, María del Valle; Enguix Riego, María del Valle; Torroglosa, Ana; Torroglosa, Ana; Fernández García, Raquel María; Fernández García, Raquel María; Moya Jiménez, María José; Moya Jiménez, María José; Agustín, Juan Carlos de; Agustín, Juan Carlos de; Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo; Borrego López, Salud; Borrego López, Salud (2016-02-16) Hirschsprung disease (HSCR) is attributed to a failure of neural crest derived cells to migrate, proliferate, differentiate ...
PhD Thesis Utilidad clínica de la biopsia selectiva del ganglio centinela tras quimioterapia neoadyuvante en pacientes con cáncer de mamaUtilidad clínica de la biopsia selectiva del ganglio centinela tras quimioterapia neoadyuvante en pacientes con cáncer de mama Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo; León Carrillo, José Manuel de; León Carrillo, José Manuel de; Romero Vargas, María Estela; Romero Vargas, María Estela (2016-02-08)
PhD Thesis Diagnóstico genético preimplantatorio: implantación, desarrollo y actualización de un programa de diagnóstico genético preimplantatorio en un Sistema Sanitario Público.Diagnóstico genético preimplantatorio: implantación, desarrollo y actualización de un programa de diagnóstico genético preimplantatorio en un Sistema Sanitario Público. Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo; Lozano Arana, María Dolores; Lozano Arana, María Dolores (2016-01-28) El Diagnóstico Genético Preimplantatorio (PGD) surge con el objetivo de ofrecer una opción reproductiva a familias con ...
Article 267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation Dopazo, Joaquín; Dopazo, Joaquín; Amadoz, Alicia; Amadoz, Alicia; Bleda, Marta; Bleda, Marta; Garcia Alonso, Luz; Garcia Alonso, Luz; Daub, Josephine T.; Daub, Josephine T.; Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo; Bhattacharya, Shomi S.; Bhattacharya, Shomi S. (Oxford University Press, 2016-01-01) Recent results from large-scale genomic projects suggest that allele frequencies, which are highly relevant for medical ...
Article Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panelImproving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel Bravo Gil, Nereida Inés; Bravo Gil, Nereida Inés; Méndez Vidal, Cristina; Méndez Vidal, Cristina; Romero Pérez, Laura; Romero Pérez, Laura; González del Pozo, María; González del Pozo, María; Rodríguez de la Rúa Franch, Enrique; Rodríguez de la Rúa Franch, Enrique; Dopazo, Joaquín; Dopazo, Joaquín; Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo (Springer Nature, 2016-01-01) Next-generation sequencing (NGS) has overcome important limitations to the molecular diagnosis of Inherited Retinal ...
Article Derivation of HVR1, HVR2 and HVR3 human embryonic stem cell lines from IVF embryos after preimplantation genetic diagnosis (PGD) for monogenic disorderDerivation of HVR1, HVR2 and HVR3 human embryonic stem cell lines from IVF embryos after preimplantation genetic diagnosis (PGD) for monogenic disorder Hmadcha, Abdelkrim; Hmadcha, Abdelkrim; Aguilera, Yolanda; Aguilera, Yolanda; Lozano Arana, María Dolores; Lozano Arana, María Dolores; Mellado, Nuria; Mellado, Nuria; Sánchez, Javier; Sánchez, Javier; Moya, Cristina; Moya, Cristina; Sánchez Palazón, Luis; Sánchez Palazón, Luis; Palacios Calvo, José; Palacios Calvo, José; Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo; Soria Escoms, Bernat; Soria Escoms, Bernat (Elsevier, 2016-01-01) From 106 human blastocyts donate for research after in vitro fertilization (IVF) and preimplantation genetic diagnosis (PGD) ...
Article Clinical and Technical Overview of Preimplantation Genetic Diagnosis for Fragile X Syndrome: Experience at the University Hospital Virgen del Rocio in SpainClinical and Technical Overview of Preimplantation Genetic Diagnosis for Fragile X Syndrome: Experience at the University Hospital Virgen del Rocio in Spain Fernández, Raquel María; Fernández, Raquel María; Peciña, Ana; Peciña, Ana; Lozano Arana, María Dolores; Lozano Arana, María Dolores; Sánchez, Beatriz; Sánchez, Beatriz; García-Lozano, Juan Carlos; García-Lozano, Juan Carlos; Borrego, Salud; Borrego, Salud; Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo (Hindawi, 2015-11-18) Fragile X syndrome (FXS) accounts for about one-half of cases of X-linked intellectual disability and is the most ...
Article Next-generation-based targeted sequencing as an efficient tool for the study of the genetic background in Hirschsprung patientsNext-generation-based targeted sequencing as an efficient tool for the study of the genetic background in Hirschsprung patients Luzón-Toro, Berta; Luzón-Toro, Berta; Espino-Paisán, Laura; Espino-Paisán, Laura; Fernández, Raquel María; Fernández, Raquel María; Martín Sánchez, Marta; Martín Sánchez, Marta; Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo; Borrego, Salud; Borrego, Salud (BMC, 2015-10-05) Background: The development of next-generation sequencing (NGS) technologies has a great impact in the human variation ...
Article Experience of Preimplantation Genetic Diagnosis for Hemophilia at the University Hospital Virgen Del Rocío in Spain: Technical and Clinical OverviewExperience of Preimplantation Genetic Diagnosis for Hemophilia at the University Hospital Virgen Del Rocío in Spain: Technical and Clinical Overview Fernández, Raquel María; Fernández, Raquel María; Peciña, Ana; Peciña, Ana; Sánchez, Beatriz; Sánchez, Beatriz; Lozano Arana, María Dolores; Lozano Arana, María Dolores; García-Lozano, Juan Carlos; García-Lozano, Juan Carlos; Pérez Garrido, Rosario; Pérez Garrido, Rosario; Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo (Hindawi Publishing Corporation, 2015-01-01) Hemophilia A and B are themost common hereditary hemorrhagic disorders, with an X-linked mode of inheritance. Reproductive options ...
Article Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigreeNovel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree Méndez-Vidal, Cristina; Méndez-Vidal, Cristina; Bravo-Gil, Nereida; Bravo-Gil, Nereida; González del Pozo, María; González del Pozo, María; Vela-Boza, Alicia; Vela-Boza, Alicia; Dopazo, Joaquín; Dopazo, Joaquín; Borrego, Salud; Borrego, Salud; Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo (BioMed Central Ltd., 2014-12-14) Background: Molecular diagnosis of Inherited Retinal Dystrophies (IRD) has long been challenging due to the extensive ...
Article Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13 Sánchez, Javier; Sánchez, Javier; Peciña, Ana; Peciña, Ana; Alonso Luengo, Olga; Alonso Luengo, Olga; González-Meneses López, Antonio; González-Meneses López, Antonio; Vázquez, Rocío; Vázquez, Rocío; Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo; Borrego, Salud; Borrego, Salud (Hindawi, 2014-10-14) Angelman syndrome (AS, OMIM 105830) is a neurogenetic disorder with firm clinical diagnostic guidelines, characterized ...
Article EXIT procedure in twin pregnancy: a series of three cases from a single centerEXIT procedure in twin pregnancy: a series of three cases from a single center García Díaz, Lutgardo; García Díaz, Lutgardo; Agustín, Juan Carlos de; Agustín, Juan Carlos de; Ontanilla, Antonio; Ontanilla, Antonio; Marenco, María Luisa; Marenco, María Luisa; Pavón, Antonio; Pavón, Antonio; Losada, Antonio; Losada, Antonio; Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo (BMC, 2014-07-30) Background: Indications for the ex utero intrapartum therapy (EXIT) procedure have evolved and nowadays in addition to ...
Article Exome Sequencing Reveals Novel and Recurrent Mutations with Clinical Significance in Inherited Retinal DystrophiesExome Sequencing Reveals Novel and Recurrent Mutations with Clinical Significance in Inherited Retinal Dystrophies González del Pozo, María; González del Pozo, María; Méndez-Vidal, Cristina; Méndez-Vidal, Cristina; Bravo-Gil, Nereida; Bravo-Gil, Nereida; Vela-Boza, Alicia; Vela-Boza, Alicia; Dopazo, Joaquín; Dopazo, Joaquín; Borrego, Salud; Borrego, Salud; Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo (Public Library of Science, 2014-01-01) This study aimed to identify the underlying molecular genetic cause in four Spanish families clinically diagnosed of ...
Article Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet–Biedl familyDeciphering intrafamilial phenotypic variability by exome sequencing in a Bardet–Biedl family González del Pozo, María; González del Pozo, María; Méndez Vidal, Cristina; Méndez Vidal, Cristina; Santoyo-López, Javier; Santoyo-López, Javier; Vela-Boza, Alicia; Vela-Boza, Alicia; Bravo Gil, Nereida Inés; Bravo Gil, Nereida Inés; Rueda, Antonio; Rueda, Antonio; Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo (Wiley Open Access, 2014-01-01) Bardet–Biedl syndrome (BBS) is a model ciliopathy characterized by a wide range of clinical variability. The heterogeneity ...
PhD Thesis Aproximación genómica al diagnóstico genético de las distrofias hereditarias de retina y búsqueda de nuevos genes relacionadosAproximación genómica al diagnóstico genético de las distrofias hereditarias de retina y búsqueda de nuevos genes relacionados Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo; González del Pozo, María; González del Pozo, María (2014-01-01) Diagnosticar genéticamente a las familias afectas de alguna de las distrofias hereditarias de retina (DHR) es, desde el ...
Article Experience of Preimplantation Genetic Diagnosis with HLA Matching at the University Hospital Virgen del Rocío in Spain: Technical and Clinical OverviewExperience of Preimplantation Genetic Diagnosis with HLA Matching at the University Hospital Virgen del Rocío in Spain: Technical and Clinical Overview Fernández, Raquel María; Fernández, Raquel María; Peciña, Ana; Peciña, Ana; Lozano Arana, María Dolores; Lozano Arana, María Dolores; Sánchez, Beatriz; Sánchez, Beatriz; Guardiola, Jordi; Guardiola, Jordi; García-Lozano, Juan Carlos; García-Lozano, Juan Carlos; Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo (Hindawi, 2014-01-01) Preimplantation genetic diagnosis (PGD) of genetic diseases, combined with HLA matching (PGD-HLA), is an option for ...
Article Mutational Spectrum of Semaphorin 3A and Semaphorin 3D Genes in Spanish Hirschsprung patientsMutational Spectrum of Semaphorin 3A and Semaphorin 3D Genes in Spanish Hirschsprung patients Luzón-Toro, Berta; Luzón-Toro, Berta; Fernández, Raquel María; Fernández, Raquel María; Torroglosa, Ana; Torroglosa, Ana; Agustín, Juan Carlos de; Agustín, Juan Carlos de; Méndez-Vidal, Cristina; Méndez-Vidal, Cristina; Segura Ayestarán, Dolores Isabel; Segura Ayestarán, Dolores Isabel; Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo; Borrego, Salud; Borrego, Salud (Public Library of Science, 2013-01-23) Hirschsprung disease (HSCR, OMIM 142623) is a developmental disorder characterized by the absence of ganglion cells along ...
Article Novel One-Step Multiplex PCR-Based Method for HLA Typing and Preimplantational Genetic Diagnosis of B-ThalassemiaNovel One-Step Multiplex PCR-Based Method for HLA Typing and Preimplantational Genetic Diagnosis of B-Thalassemia Fernández, Raquel María; Fernández, Raquel María; Peciña, Ana; Peciña, Ana; Lozano Arana, María Dolores; Lozano Arana, María Dolores; García-Lozano, Juan Carlos; García-Lozano, Juan Carlos; Borrego, Salud; Borrego, Salud; Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo (Hindawi, 2013-01-01) Preimplantation genetic diagnosis (PGD) of single gene disorders, combined with HLA matching (PGD-HLA), has emerged as a ...
Article Pathways systematically associated to Hirschsprung’s diseasePathways systematically associated to Hirschsprung’s disease Fernández, Raquel María; Fernández, Raquel María; Bleda, Marta; Bleda, Marta; Luzón-Toro, Berta; Luzón-Toro, Berta; García-Alonso, Luz; García-Alonso, Luz; Arnold, Stacey; Arnold, Stacey; Sribudiani, Yunia; Sribudiani, Yunia; Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo; Borrego, Salud; Borrego, Salud (BMC, 2013-01-01) Despite it has been reported that several loci are involved in Hirschsprung’s disease, the molecular basis of the disease ...
Article Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung’s diseaseFour new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung’s disease Fernández, Raquel María; Fernández, Raquel María; Bleda, Marta; Bleda, Marta; Núñez-Torres, Rocío; Núñez-Torres, Rocío; Medina, Ignacio; Medina, Ignacio; Luzón-Toro, Berta; Luzón-Toro, Berta; García-Alonso, Luz; García-Alonso, Luz; Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo; Borrego, Salud; Borrego, Salud (Springer Nature, 2012-12-28) Finding gene associations in rare diseases is frequently hampered by the reduced numbers of patients accessible. Conventional ...
Article A map of human microRNA variation uncovers unexpectedly high levels of variabilityA map of human microRNA variation uncovers unexpectedly high levels of variability Carbonell, Jose; Carbonell, Jose; Alloza, Eva; Alloza, Eva; Arce, P.; Arce, P.; Borrego, Salud; Borrego, Salud; Santoyo, Javier; Santoyo, Javier; Ruiz Ferrer, Macarena; Ruiz Ferrer, Macarena; Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo; Dopazo, Joaquín; Dopazo, Joaquín (BMC, 2012-08-24) Background: MicroRNAs (miRNAs) are key components of the gene regulatory network in many species. During the past few ...
Article Prenatal management and perinatal outcome in giant placental chorioangioma complicated with hydrops fetalis, fetal anemia and maternal mirror syndromePrenatal management and perinatal outcome in giant placental chorioangioma complicated with hydrops fetalis, fetal anemia and maternal mirror syndrome García Díaz, Lutgardo; García Díaz, Lutgardo; Carreto, Práxedes; Carreto, Práxedes; Costa-Pereira, Susana; Costa-Pereira, Susana; Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo (BioMed Central, 2012-07-28) Background: Giant placental chorioangiomas have been associated with a number of severe fetal complications and high ...
Article Prenatal Management and Outcome of Junctional Ectopic Tachycardia and HydropsPrenatal Management and Outcome of Junctional Ectopic Tachycardia and Hydrops García Díaz, Lutgardo; García Díaz, Lutgardo; Coserria Sánchez, José Félix; Coserria Sánchez, José Félix; Costa, Susana; Costa, Susana; Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo (Arquivos Brasileiros de Cardiologia, 2012-04-09) Fetal dysrhythmias are reported in approximately 1-2% of all pregnancies and are a relatively common reason for referral ...
Patent Sistema de análisis y gestión de imágenes quirúrgicas.Sistema de análisis y gestión de imágenes quirúrgicas. Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo; Márquez Rivas, Javier; Márquez Rivas, Javier; Perales Esteve, Manuel Ángel; Perales Esteve, Manuel Ángel; Gómez-González, Emilio; Gómez-González, Emilio (Oficina Española de Patentes y Marcas , 2012-02-15) Sistema de análisis y gestión de imágenes quirúrgicas.Se describe un sistema de análisis y gestión de imágenes quirúrgicas ...
Patent Sistema de análisis y gestión de imágenes quirúrgicas.Sistema de análisis y gestión de imágenes quirúrgicas. Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo; Márquez Rivas, Javier; Márquez Rivas, Javier; Perales Esteve, Manuel Ángel; Perales Esteve, Manuel Ángel; Gómez-González, Emilio; Gómez-González, Emilio (Oficina Española de Patentes y Marcas , 2012-02-15) Sistema de análisis y gestión de imágenes quirúrgicas.Se describe un sistema de análisis y gestión de imágenes quirúrgicas ...
Article Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14 Sánchez, Javier; Sánchez, Javier; García Díaz, Lutgardo; García Díaz, Lutgardo; Chinchón, David; Chinchón, David; Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo (Hindawi Publishing Corporation, 2012-01-01) Monosomy of chromosome 14 has been reported in only a few prenatal cases. Generally, this monosomy is associated with ...
Article Hypertrophic Cardiomyopathy due to Mitochondrial Disease: Prenatal Diagnosis, Management, and OutcomeHypertrophic Cardiomyopathy due to Mitochondrial Disease: Prenatal Diagnosis, Management, and Outcome García Díaz, Lutgardo; García Díaz, Lutgardo; Coserria Sánchez, José Félix; Coserria Sánchez, José Félix; Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo (Hindawi, 2012-01-01) A case of prenatally diagnosed fetal hypertrophic cardiomyopathy is reported. The mother was referred to our department ...
Article Expression of PROKR1 and PROKR2 in Human Enteric Neural Precursor Cells and Identification of Sequence Variants Suggest a Role in HSCRExpression of PROKR1 and PROKR2 in Human Enteric Neural Precursor Cells and Identification of Sequence Variants Suggest a Role in HSCR Ruiz Ferrer, Macarena; Ruiz Ferrer, Macarena; Torroglosa, Ana; Torroglosa, Ana; Núñez-Torres, Rocío; Núñez-Torres, Rocío; Agustín, Juan Carlos de; Agustín, Juan Carlos de; Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo; Borrego, Salud; 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 ...
Article Mutation Screening of Multiple Genes in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa by Targeted ResequencingMutation Screening of Multiple Genes in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa by Targeted Resequencing Borrego López, Salud; Borrego López, Salud; Santoyo, Javier; Santoyo, Javier; Barragán Mallofret, María Isabel; Barragán Mallofret, María Isabel; Pieras Martín, Juan Ignacio; Pieras Martín, Juan Ignacio; Dopazo, Joaquín; Dopazo, Joaquín; Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo; Matamala Zamarro, Nerea; Matamala Zamarro, Nerea; Naranjo Río-Miranda, Belén; Naranjo Río-Miranda, Belén; González del Pozo, María; González del Pozo, María (2011-01-01)
PhD Thesis Genética molecular de la retinosis pigmentaria autosómica recesiva. Análisis de ligamiento genómico e identificación y evaluación de posibles genes responsables.Genética molecular de la retinosis pigmentaria autosómica recesiva. Análisis de ligamiento genómico e identificación y evaluación de posibles genes responsables. Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo; Barragán Mallofret, María Isabel; Barragán Mallofret, María Isabel (2007-01-01)
PhD Thesis Etiopatogenia de la retinosis pigmentaria autosomica recesiva (RPAR) caracterización de genes candidatos y evaluación de su implicación en el desarrollo de RPAREtiopatogenia de la retinosis pigmentaria autosomica recesiva (RPAR) caracterización de genes candidatos y evaluación de su implicación en el desarrollo de RPAR Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo; Palomares Díaz, Antonio José; Palomares Díaz, Antonio José; Marcos Luque, Irene; Marcos Luque, Irene (2002-11-25)
PhD Thesis Etiopatogenia de la retinosis pigmentaria (RP): estudio molecular de genes implizados en RPEtiopatogenia de la retinosis pigmentaria (RP): estudio molecular de genes implizados en RP Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo; Ruiz Laza, Agustín; Ruiz Laza, Agustín (1998-05-13)
PhD Thesis Correlación genotipo/fenotipo en la fibrosis quísticaCorrelación genotipo/fenotipo en la fibrosis quística Gómez de Terreros Sánchez, Ignacio; Gómez de Terreros Sánchez, Ignacio; Antiñolo Gil, Guillermo; Antiñolo Gil, Guillermo; Dapena Fernández, Francisco Javier; Dapena Fernández, Francisco Javier (1995-06-28) Los enfermos con fibrosis quística manifiestan una clínica heterogénea que podría tener una base genética, de forma tal ...

Author profile: Antiñolo Gil, Guillermo

Institutional data

Statistics

56

5086

10698

Publications