Perfil del autor: Antiñolo Gil, Guillermo
Datos institucionales
| Nombre | Antiñolo Gil, Guillermo |
| Departamento | Cirugía |
| Área de conocimiento | Obstetricia y Ginecología |
| Categoría profesional | Catedrático de Universidad (Pza. V.) |
| Correo electrónico | Solicitar |
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Estadísticas
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Nº publicaciones
60
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Nº visitas
6365
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Nº descargas
15527
| Publicaciones |
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Artículo
 Listeriosis outbreak caused by contaminated stuffed pork, Andalusia, Spain, July to October 2019
(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 ... |
Tesis Doctoral
Evolución de los neonatos afectos de hernia diafragmática congénita de riesgo intermedio nacidos mediante EXIT (ex-utero intrapartum treatmeant)
(2022)
La hernia diafragmática congénita (HDC) es una patología que afecta a 1 de cada 3000 recién nacidos. El realizar un correcto ... |
Artículo
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies
(Nature Portfolio, 2022)
To enhance the use of Whole Genome Sequencing (WGS) in clinical practice, it is still necessary to standardize data analysis ... |
Artículo
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative
(BLACKWELL MUNKSGAARD, 2022)
CIBER (Center for Biomedical Network Research; Centro de Investigacion Biomédica En Red) is a public national consortium ... |
Artículo
Mode of delivery, perinatal outcome and neurodevelopment in uncomplicated monochorionic diamniotic twins: a single-center retrospective cohort study
(Biomed Central LTD, 2022)
Background There is no agreement on the effect of planned mode of delivery in the perinatal morbidity and neurodevelopment ... |
Tesis Doctoral
Gestación gemelar monocorial. Terapia fetal, resultados perinatales y valoración del neurodesarrollo postnatal
(2021)
Además de las complicaciones propias derivadas de la gemelaridad (prematuridad, rotura prematura de membranas), los gemelos ... |
Artículo
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
(2021)
Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors, are disorders characterized ... |
Artículo
RMRP, RMST, FTX and IPW: novel potential long non-coding RNAs in medullary thyroid cancer
(BIOMED CENTRAL LTD, 2021)
The relevant role of long non-coding RNAs (lncRNAs) in cancer is currently a matter of increasing interest. Medullary ... |
Artículo
Diagnóstico prenatal de atresia de yeyuno con ecografía 3D con reconstrucción en superficie (HDlive): reporte de caso y revisión de la literatura
(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 ... |
Artículo
CSVS, a crowdsourcing database of the Spanish population genetic variability
(OXFORD UNIV PRESS, 2021)
The knowledge of the genetic variability of the local population is of utmost importance in personalized medicine and has ... |
Artículo
Unusual clinical phenotype of Stargardt disease
(2021)
Mutations in the ABCA4 gene are a common cause of Stargardt disease; however, other retinal phenotypes have also been ... |
Artículo
Identification of a PROM1 mutation in a Spanish family with inherited retinal dystrophies
(Bentham Open, 2021)
Background: We report a Spanish family, comprising an affected mother and daughter, respectively diagnosed with retinitis ... |
Artículo
Genome-wide analysis of DNA methylation in Hirschsprung enteric precursor cells: unraveling the epigenetic landscape of enteric nervous system development
(BMC, 2021)
Background: Hirschsprung disease (HSCR, OMIM 142623) is a rare congenital disorder that results from a failure to fully ... |
Artículo
Ex-Utero Intrapartum Treatment (EXIT): indications and outcome in fetal cervical and oropharyngeal masses
(Springer Nature, 2020)
Background: The “Ex-Utero Intrapartum Treatment” (EXIT) procedure allows to ensure fetal airway before completion of ... |
Artículo
ChIP-Seq-Based Approach in Mouse Enteric Precursor Cells Reveals New Potential Genes with a Role in Enteric Nervous System Development and Hirschsprung Disease
(MDPI, 2020)
Hirschsprung disease (HSCR) is a neurocristopathy characterized by intestinal aganglionosis which is attributed to a failure ... |
Artículo
Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open‑access tools: hidden recessive inheritance and potential oligogenic variants
(BMC, 2020)
Background: Retinitis Pigmentosa (RP) is a clinically and genetically heterogeneous disorder that results in inher‑ ited ... |
Artículo
Influencers on thyroid cancer onset: molecular genetic basis
(2019)
Thyroid cancer, a cancerous tumor or growth located within the thyroid gland, is the most common endocrine cancer. It is ... |
Artículo
Epigenetic Mechanisms in Hirschsprung Disease
(MDPI, 2019)
Hirschsprung disease (HSCR, OMIM 142623) is due to a failure of enteric precursor cells derived from neural crest (EPCs) ... |
| Tesis Doctoral |
Artículo
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
(Hindawi, 2017)
Myotonic dystrophy type 1 (DM1) is the most common adult muscular dystrophy and presents an autosomal dominant inheritance. ... |
Artículo
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome
(Nature Research, 2017)
Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that almost exclusively affects girls and is totally ... |
Tesis Doctoral
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)
(2017)
Desde que se introdujeron los programas de cribado poblacional para la detección precoz de las lesiones cervicales ha ... |
Artículo
Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes
(BioMed Central Ltd., 2017)
Background: Hirschsprung disease (HSCR), which is congenital obstruction of the bowel, results from a failure of enteric ... |
Artículo
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
(Impact Journals, 2017)
Hirschsprung disease (HSCR, OMIM 142623) is a pathology that shows a lack of enteric ganglia along of the distal ... |
Artículo
Unravelling the genetic basis of simplex Retinitis Pigmentosa cases
(Nature Publishing Group, 2017)
Retinitis Pigmentosa (RP) is the most common form of inherited retinal dystrophy (IRD) characterized ultimately by ... |
Tesis Doctoral
Implementación de técnicas de secuenciación masiva para el desarrollo de nuevos algoritmos diagnósticos y bioinformáticos en distrófias hereditarias de retina
(2016)
Las distrofias hereditarias de retina (DHR) son un conjunto de enfermedades degenerativas y, generalmente, progresivas que ... |
Artículo
Co-segregation of a homozygous SMN1 deletion and a heterozygous PMP22 duplication in a patient
(Wiley Open Access, 2016)
Despite co-segregation of two different genetic neurological disorders within a family is rare, clinicians should take ... |
Artículo
Identification of different mechanisms leading to PAX6 down-regulation as potential events contributing to the onset of Hirschsprung disease
(2016)
Hirschsprung disease (HSCR) is attributed to a failure of neural crest derived cells to migrate, proliferate, differentiate ... |
| Tesis Doctoral |
Tesis Doctoral
Diagnóstico genético preimplantatorio: implantación, desarrollo y actualización de un programa de diagnóstico genético preimplantatorio en un Sistema Sanitario Público.
(2016)
El Diagnóstico Genético Preimplantatorio (PGD) surge con el objetivo de ofrecer una opción reproductiva a familias con ... |
Artículo
267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation
(Oxford University Press, 2016)
Recent results from large-scale genomic projects suggest that allele frequencies, which are highly relevant for medical ... |
Artículo
Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel
(Springer Nature, 2016)
Next-generation sequencing (NGS) has overcome important limitations to the molecular diagnosis of Inherited Retinal ... |
Artículo
Derivation of HVR1, HVR2 and HVR3 human embryonic stem cell lines from IVF embryos after preimplantation genetic diagnosis (PGD) for monogenic disorder
(Elsevier, 2016)
From 106 human blastocyts donate for research after in vitro fertilization (IVF) and preimplantation genetic diagnosis (PGD) ... |
Artículo
Clinical and Technical Overview of Preimplantation Genetic Diagnosis for Fragile X Syndrome: Experience at the University Hospital Virgen del Rocio in Spain
(Hindawi, 2015)
Fragile X syndrome (FXS) accounts for about one-half of cases of X-linked intellectual disability and is the most ... |
Artículo
Next-generation-based targeted sequencing as an efficient tool for the study of the genetic background in Hirschsprung patients
(BMC, 2015)
Background: The development of next-generation sequencing (NGS) technologies has a great impact in the human variation ... |
Artículo
Experience of Preimplantation Genetic Diagnosis for Hemophilia at the University Hospital Virgen Del Rocío in Spain: Technical and Clinical Overview
(Hindawi Publishing Corporation, 2015)
Hemophilia A and B are themost common hereditary hemorrhagic disorders, with an X-linked mode of inheritance. Reproductive options ... |
Artículo
Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree
(BioMed Central Ltd., 2014)
Background: Molecular diagnosis of Inherited Retinal Dystrophies (IRD) has long been challenging due to the extensive ... |
Artículo
Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13
(Hindawi, 2014)
Angelman syndrome (AS, OMIM 105830) is a neurogenetic disorder with firm clinical diagnostic guidelines, characterized ... |
Artículo
EXIT procedure in twin pregnancy: a series of three cases from a single center
(BMC, 2014)
Background: Indications for the ex utero intrapartum therapy (EXIT) procedure have evolved and nowadays in addition to ... |
Artículo
Exome Sequencing Reveals Novel and Recurrent Mutations with Clinical Significance in Inherited Retinal Dystrophies
(Public Library of Science, 2014)
This study aimed to identify the underlying molecular genetic cause in four Spanish families clinically diagnosed of ... |
Artículo
Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet–Biedl family
(Wiley Open Access, 2014)
Bardet–Biedl syndrome (BBS) is a model ciliopathy characterized by a wide range of clinical variability. The heterogeneity ... |
Tesis Doctoral
Aproximación genómica al diagnóstico genético de las distrofias hereditarias de retina y búsqueda de nuevos genes relacionados
(2014)
Diagnosticar genéticamente a las familias afectas de alguna de las distrofias hereditarias de retina (DHR) es, desde el ... |
Artículo
Experience of Preimplantation Genetic Diagnosis with HLA Matching at the University Hospital Virgen del Rocío in Spain: Technical and Clinical Overview
(Hindawi, 2014)
Preimplantation genetic diagnosis (PGD) of genetic diseases, combined with HLA matching (PGD-HLA), is an option for ... |
Artículo
Mutational Spectrum of Semaphorin 3A and Semaphorin 3D Genes in Spanish Hirschsprung patients
(Public Library of Science, 2013)
Hirschsprung disease (HSCR, OMIM 142623) is a developmental disorder characterized by the absence of ganglion cells along ... |
Artículo
Novel One-Step Multiplex PCR-Based Method for HLA Typing and Preimplantational Genetic Diagnosis of B-Thalassemia
(Hindawi, 2013)
Preimplantation genetic diagnosis (PGD) of single gene disorders, combined with HLA matching (PGD-HLA), has emerged as a ... |
Artículo
Pathways systematically associated to Hirschsprung’s disease
(BMC, 2013)
Despite it has been reported that several loci are involved in Hirschsprung’s disease, the molecular basis of the disease ... |
Artículo
Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung’s disease
(Springer Nature, 2012)
Finding gene associations in rare diseases is frequently hampered by the reduced numbers of patients accessible. Conventional ... |
Artículo
A map of human microRNA variation uncovers unexpectedly high levels of variability
(BMC, 2012)
Background: MicroRNAs (miRNAs) are key components of the gene regulatory network in many species. During the past few ... |
Artículo
Prenatal management and perinatal outcome in giant placental chorioangioma complicated with hydrops fetalis, fetal anemia and maternal mirror syndrome
(BioMed Central, 2012)
Background: Giant placental chorioangiomas have been associated with a number of severe fetal complications and high ... |
Artículo
Prenatal Management and Outcome of Junctional Ectopic Tachycardia and Hydrops
(Arquivos Brasileiros de Cardiologia, 2012)
Fetal dysrhythmias are reported in approximately 1-2% of all pregnancies and are a relatively common reason for referral ... |
Patente
Sistema de análisis y gestión de imágenes quirúrgicas.
(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 ... |
Patente
Sistema de análisis y gestión de imágenes quirúrgicas.
(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 ... |
Artículo
Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14
(Hindawi Publishing Corporation, 2012)
Monosomy of chromosome 14 has been reported in only a few prenatal cases. Generally, this monosomy is associated with ... |
Artículo
Hypertrophic Cardiomyopathy due to Mitochondrial Disease: Prenatal Diagnosis, Management, and Outcome
(Hindawi, 2012)
A case of prenatally diagnosed fetal hypertrophic cardiomyopathy is reported. The mother was referred to our department ... |
Artículo
Expression of PROKR1 and PROKR2 in Human Enteric Neural Precursor Cells and Identification of Sequence Variants Suggest a Role in HSCR
(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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Tesis Doctoral
Correlación genotipo/fenotipo en la fibrosis quística
(1995)
Los enfermos con fibrosis quística manifiestan una clínica heterogénea que podría tener una base genética, de forma tal ... |
