NameAntiñolo Gil, Guillermo
DepartmentCirugía
Knowledge areaObstetricia y Ginecología
Professional categoryCatedrático de Universidad (Pza. V.)
E-mailRequest
       
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PhD Thesis
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Desarrollo de una estrategia genómica y bioinformática para la optimización del diagnóstico genético de las distrofias hereditarias de retina y su traslación a la práctica clínica

Fernández Suárez, María Elena; Antiñolo Gil, Guillermo; González del Pozo, María (2024)
Las distrofias hereditarias de retina (DHR) constituyen un grupo de enfermedades raras de base genética que cursan con ...
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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)
Between 1 July and 26 October 2019 in Andalusia, Spain, a large outbreak with 207 confirmed cases of listeriosis was ...
PhD Thesis
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Evolución de los neonatos afectos de hernia diafragmática congénita de riesgo intermedio nacidos mediante EXIT (ex-utero intrapartum treatmeant)

Barrera Talavera, María Dolores; Antiñolo Gil, Guillermo; García Díaz, Lutgardo; Congregado Loscertales, Miguel (2022)
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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A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies

González del Pozo, María; Fernández Suárez, Elena; Bravo Gil, Nereida Inés; Méndez Vidal, Cristina; Martín Sánchez, Marta; Rodríguez de la Rúa Franch, Enrique; Ramos Jiménez, Manuel; Morillo Sánchez, María José; Borrego, Salud; Antiñolo Gil, Guillermo (Nature Portfolio, 2022)
To enhance the use of Whole Genome Sequencing (WGS) in clinical practice, it is still necessary to standardize data analysis ...
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CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative

Luque, Juan; Mendes, Ingrid; Gómez, Beatriz; Morte, Beatriz; López de Heredia, Miguel; Herreras, Enrique; Lapunzina, Pablo; Antiñolo Gil, Guillermo (BLACKWELL MUNKSGAARD, 2022)
CIBER (Center for Biomedical Network Research; Centro de Investigacion Biomédica En Red) is a public national consortium ...
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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 ...
PhD Thesis
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Gestación gemelar monocorial. Terapia fetal, resultados perinatales y valoración del neurodesarrollo postnatal

Chimenea Toscano, Ángel; Antiñolo Gil, Guillermo; García Díaz, Lutgardo (2021)
Además de las complicaciones propias derivadas de la gemelaridad (prematuridad, rotura prematura de membranas), los gemelos ...
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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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RMRP, RMST, FTX and IPW: novel potential long non-coding RNAs in medullary thyroid cancer

Luzón-Toro, Berta; Villalba Benito, Leticia; Fernández, Raquel María; Torroglosa, Ana; Antiñolo Gil, Guillermo; Borrego, Salud (BIOMED CENTRAL LTD, 2021)
The relevant role of long non-coding RNAs (lncRNAs) in cancer is currently a matter of increasing interest. Medullary ...
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Diagnóstico prenatal de atresia de yeyuno con ecografía 3D con reconstrucción en superficie (HDlive): reporte de caso y revisión de la literatura

Chimenea-Toscano, Ángel; García Díaz, Lutgardo; Antiñolo Gil, Guillermo (Federación Colombiana de Obstetricia y Ginecología (FECOLSOG), 2021)
Objetivos: reportar el caso de una paciente con diagnóstico prenatal de atresia de yeyuno y hacer una revisión de la ...
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CSVS, a crowdsourcing database of the Spanish population genetic variability

Peña-Chilet, María; Roldán, Gema; Perez-Florido, Javier; Ortuño, Francisco M.; Carmona, Rosario; Antiñolo Gil, Guillermo; Dopazo, Joaquín (OXFORD UNIV PRESS, 2021)
The knowledge of the genetic variability of the local population is of utmost importance in personalized medicine and has ...
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Unusual clinical phenotype of Stargardt disease

Molina-Solana, Pedro; Morillo-Sánchez, María José; Méndez-Vidal, Cristina; Ramos-Jiménez, Manuel; Domínguez-Serrano, Borja; Antiñolo Gil, Guillermo; Rodríguez de la Rúa Franch, Enrique (2021)
Mutations in the ABCA4 gene are a common cause of Stargardt disease; however, other retinal phenotypes have also been ...
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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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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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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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ChIP-Seq-Based Approach in Mouse Enteric Precursor Cells Reveals New Potential Genes with a Role in Enteric Nervous System Development and Hirschsprung Disease

Villalba Benito, Leticia; Torroglosa, Ana; Luzón-Toro, Berta; Fernández, Raquel María; Moya Jiménez, María José; Antiñolo Gil, Guillermo; Borrego, Salud (MDPI, 2020)
Hirschsprung disease (HSCR) is a neurocristopathy characterized by intestinal aganglionosis which is attributed to a failure ...
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Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open‑access tools: hidden recessive inheritance and potential oligogenic variants

González‑del Pozo, María; Fernández‑Suárez, Elena; Martín‑Sánchez, Marta; Bravo‑Gil, Nereida; Méndez‑Vidal, Cristina; Rodríguez‑de la Rúa, Enrique; Antiñolo Gil, Guillermo (BMC, 2020)
Background: Retinitis Pigmentosa (RP) is a clinically and genetically heterogeneous disorder that results in inher‑ ited ...
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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)
Thyroid cancer, a cancerous tumor or growth located within the thyroid gland, is the most common endocrine cancer. It is ...
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Epigenetic Mechanisms in Hirschsprung Disease

Torroglosa, Ana; Villalba Benito, Leticia; Luzón-Toro, Berta; Fernández García, Raquel María; Antiñolo Gil, Guillermo; Borrego López, Salud (MDPI, 2019)
Hirschsprung disease (HSCR, OMIM 142623) is due to a failure of enteric precursor cells derived from neural crest (EPCs) ...
PhD Thesis
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Preimplantation 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; Lozano Arana, María Dolores; Sánchez, Beatriz; Peciña, Ana; García-Lozano, Juan Carlos; Borrego, Salud; Antiñolo Gil, Guillermo (Hindawi, 2017)
Myotonic dystrophy type 1 (DM1) is the most common adult muscular dystrophy and presents an autosomal dominant inheritance. ...
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The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

Vidal, Silvia; Brandi, Núria; Pacheco, Paola; Gerotina, Edgar; Blasco, L.; Trotta, Jean Rémi; Antiñolo Gil, Guillermo (Nature Research, 2017)
Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that almost exclusively affects girls and is totally ...
PhD Thesis
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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)

García Lancha, Luis Carlos; Toro Salas, Antonio de; Antiñolo Gil, Guillermo; Torrejón Cardoso, Rafael (2017)
Desde que se introdujeron los programas de cribado poblacional para la detección precoz de las lesiones cervicales ha ...
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Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

Gui, Hongsheng; Schriemer, Duco; Cheng, William W.; Chauhan, Rajendra K.; Antiñolo Gil, Guillermo; Berrios, Courtney; Hofstra, Robert M. W. (BioMed Central Ltd., 2017)
Background: Hirschsprung disease (HSCR), which is congenital obstruction of the bowel, results from a failure of enteric ...
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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 disease

Torroglosa, Ana; Villalba Benito, Leticia; Fernández, Raquel; Moya Jiménez, María José; Antiñolo Gil, Guillermo; Borrego López, Salud (Impact Journals, 2017)
Hirschsprung disease (HSCR, OMIM 142623) is a pathology that shows a lack of enteric ganglia along of the distal ...
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Unravelling the genetic basis of simplex Retinitis Pigmentosa cases

Bravo Gil, Nereida Inés; González del Pozo, María; Martín Sánchez, Marta; Méndez Vidal, Cristina; Rodríguez de la Rúa Franch, Enrique; Borrego López, Salud; Antiñolo Gil, Guillermo (Nature Publishing Group, 2017)
Retinitis Pigmentosa (RP) is the most common form of inherited retinal dystrophy (IRD) characterized ultimately by ...
PhD Thesis
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Implementación de técnicas de secuenciación masiva para el desarrollo de nuevos algoritmos diagnósticos y bioinformáticos en distrófias hereditarias de retina

Bravo Gil, Nereida Inés; Antiñolo Gil, Guillermo (2016)
Las distrofias hereditarias de retina (DHR) son un conjunto de enfermedades degenerativas y, generalmente, progresivas que ...
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Co-segregation of a homozygous SMN1 deletion and a heterozygous PMP22 duplication in a patient

Fernández, Raquel María; Peciña, Ana; Muñoz-Cabello, Beatriz; Antiñolo Gil, Guillermo; Borrego, Salud (Wiley Open Access, 2016)
Despite co-segregation of two different genetic neurological disorders within a family is rare, clinicians should take ...
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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)
Hirschsprung disease (HSCR) is attributed to a failure of neural crest derived cells to migrate, proliferate, differentiate ...
PhD Thesis
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Utilidad clínica de la biopsia selectiva del ganglio centinela tras quimioterapia neoadyuvante en pacientes con cáncer de mama

Romero Vargas, María Estela; Antiñolo Gil, Guillermo; León Carrillo, José Manuel de (2016)
PhD Thesis
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Diagnóstico genético preimplantatorio: implantación, desarrollo y actualización de un programa de diagnóstico genético preimplantatorio en un Sistema Sanitario Público.

Lozano Arana, María Dolores; Antiñolo Gil, Guillermo (2016)
El Diagnóstico Genético Preimplantatorio (PGD) surge con el objetivo de ofrecer una opción reproductiva a familias con ...
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267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation

Dopazo, Joaquín; Amadoz, Alicia; Bleda, Marta; Garcia Alonso, Luz; Daub, Josephine T.; Antiñolo Gil, Guillermo; Bhattacharya, Shomi S. (Oxford University Press, 2016)
Recent results from large-scale genomic projects suggest that allele frequencies, which are highly relevant for medical ...
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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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Derivation of HVR1, HVR2 and HVR3 human embryonic stem cell lines from IVF embryos after preimplantation genetic diagnosis (PGD) for monogenic disorder

Hmadcha, Abdelkrim; Aguilera, Yolanda; Lozano Arana, María Dolores; Mellado, Nuria; Sánchez, Javier; Moya, Cristina; Sánchez Palazón, Luis; Palacios Calvo, José; Antiñolo Gil, Guillermo; Soria Escoms, Bernat (Elsevier, 2016)
From 106 human blastocyts donate for research after in vitro fertilization (IVF) and preimplantation genetic diagnosis (PGD) ...
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Clinical and Technical Overview of Preimplantation Genetic Diagnosis for Fragile X Syndrome: Experience at the University Hospital Virgen del Rocio in Spain

Fernández, Raquel María; Peciña, Ana; Lozano Arana, María Dolores; Sánchez, Beatriz; García-Lozano, Juan Carlos; Borrego, Salud; Antiñolo Gil, Guillermo (Hindawi, 2015)
Fragile X syndrome (FXS) accounts for about one-half of cases of X-linked intellectual disability and is the most ...
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Next-generation-based targeted sequencing as an efficient tool for the study of the genetic background in Hirschsprung patients

Luzón-Toro, Berta; Espino-Paisán, Laura; Fernández, Raquel María; Martín Sánchez, Marta; Antiñolo Gil, Guillermo; Borrego, Salud (BMC, 2015)
Background: The development of next-generation sequencing (NGS) technologies has a great impact in the human variation ...
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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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Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree

Méndez-Vidal, Cristina; Bravo-Gil, Nereida; González del Pozo, María; Vela-Boza, Alicia; Dopazo, Joaquín; Borrego, Salud; Antiñolo Gil, Guillermo (BioMed Central Ltd., 2014)
Background: Molecular diagnosis of Inherited Retinal Dystrophies (IRD) has long been challenging due to the extensive ...
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Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13

Sánchez, Javier; Peciña, Ana; Alonso Luengo, Olga; González-Meneses López, Antonio; Vázquez, Rocío; Antiñolo Gil, Guillermo; Borrego, Salud (Hindawi, 2014)
Angelman syndrome (AS, OMIM 105830) is a neurogenetic disorder with firm clinical diagnostic guidelines, characterized ...
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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)
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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Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet–Biedl family

González del Pozo, María; Méndez Vidal, Cristina; Santoyo-López, Javier; Vela-Boza, Alicia; Bravo Gil, Nereida Inés; Rueda, Antonio; Antiñolo Gil, Guillermo (Wiley Open Access, 2014)
Bardet–Biedl syndrome (BBS) is a model ciliopathy characterized by a wide range of clinical variability. The heterogeneity ...
PhD Thesis
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Aproximación genómica al diagnóstico genético de las distrofias hereditarias de retina y búsqueda de nuevos genes relacionados

González del Pozo, María; Antiñolo Gil, Guillermo (2014)
Diagnosticar genéticamente a las familias afectas de alguna de las distrofias hereditarias de retina (DHR) es, desde el ...
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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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Mutational Spectrum of Semaphorin 3A and Semaphorin 3D Genes in Spanish Hirschsprung patients

Luzón-Toro, Berta; Fernández, Raquel María; Torroglosa, Ana; Agustín, Juan Carlos de; Méndez-Vidal, Cristina; Segura Ayestarán, Dolores Isabel; Antiñolo Gil, Guillermo; Borrego, Salud (Public Library of Science, 2013)
Hirschsprung disease (HSCR, OMIM 142623) is a developmental disorder characterized by the absence of ganglion cells along ...
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Novel One-Step Multiplex PCR-Based Method for HLA Typing and Preimplantational Genetic Diagnosis of B-Thalassemia

Fernández, Raquel María; Peciña, Ana; Lozano Arana, María Dolores; García-Lozano, Juan Carlos; Borrego, Salud; Antiñolo Gil, Guillermo (Hindawi, 2013)
Preimplantation genetic diagnosis (PGD) of single gene disorders, combined with HLA matching (PGD-HLA), has emerged as a ...
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Pathways systematically associated to Hirschsprung’s disease

Fernández, Raquel María; Bleda, Marta; Luzón-Toro, Berta; García-Alonso, Luz; Arnold, Stacey; Sribudiani, Yunia; Antiñolo Gil, Guillermo; Borrego, Salud (BMC, 2013)
Despite it has been reported that several loci are involved in Hirschsprung’s disease, the molecular basis of the disease ...
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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)
Finding gene associations in rare diseases is frequently hampered by the reduced numbers of patients accessible. Conventional ...
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A map of human microRNA variation uncovers unexpectedly high levels of variability

Carbonell, Jose; Alloza, Eva; Arce, P.; Borrego, Salud; Santoyo, Javier; Ruiz Ferrer, Macarena; Antiñolo Gil, Guillermo; Dopazo, Joaquín (BMC, 2012)
Background: MicroRNAs (miRNAs) are key components of the gene regulatory network in many species. During the past few ...
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Prenatal management and perinatal outcome in giant placental chorioangioma complicated with hydrops fetalis, fetal anemia and maternal mirror syndrome

García Díaz, Lutgardo; Carreto, Práxedes; Costa-Pereira, Susana; Antiñolo Gil, Guillermo (BioMed Central, 2012)
Background: Giant placental chorioangiomas have been associated with a number of severe fetal complications and high ...
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Prenatal Management and Outcome of Junctional Ectopic Tachycardia and Hydrops

García Díaz, Lutgardo; Coserria Sánchez, José Félix; Costa, Susana; Antiñolo Gil, Guillermo (Arquivos Brasileiros de Cardiologia, 2012)
Fetal dysrhythmias are reported in approximately 1-2% of all pregnancies and are a relatively common reason for referral ...
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Sistema de análisis y gestión de imágenes quirúrgicas.

Antiñolo Gil, Guillermo; Márquez Rivas, Javier; Perales Esteve, Manuel Ángel; Gómez-González, Emilio (Oficina Española de Patentes y Marcas , 2012)
Sistema de análisis y gestión de imágenes quirúrgicas.Se describe un sistema de análisis y gestión de imágenes quirúrgicas ...
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Sistema de análisis y gestión de imágenes quirúrgicas.

Antiñolo Gil, Guillermo; Márquez Rivas, Javier; Perales Esteve, Manuel Ángel; Gómez-González, Emilio (Oficina Española de Patentes y Marcas , 2012)
Sistema de análisis y gestión de imágenes quirúrgicas.Se describe un sistema de análisis y gestión de imágenes quirúrgicas ...
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Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14

Sánchez, Javier; García Díaz, Lutgardo; Chinchón, David; Antiñolo Gil, Guillermo (Hindawi Publishing Corporation, 2012)
Monosomy of chromosome 14 has been reported in only a few prenatal cases. Generally, this monosomy is associated with ...
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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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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)
Background: The enteric nervous system (ENS) is entirely derived from neural crest and its normal development is regulated by ...
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Mutation Screening of Multiple Genes in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa by Targeted Resequencing

Borrego López, Salud; Santoyo, Javier; Barragán Mallofret, María Isabel; Pieras Martín, Juan Ignacio; Dopazo, Joaquín; Antiñolo Gil, Guillermo; Matamala Zamarro, Nerea; Naranjo Río-Miranda, Belén; González del Pozo, María (2011)
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Correlación genotipo/fenotipo en la fibrosis quística

Dapena Fernández, Francisco Javier; Gómez de Terreros Sánchez, Ignacio; Antiñolo Gil, Guillermo (1995)
Los enfermos con fibrosis quística manifiestan una clínica heterogénea que podría tener una base genética, de forma tal ...