Browsing by Author "Antiñolo Gil, Guillermo"
Now showing items 1-20 of 56
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Article
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 ...
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Article
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 ...
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Article
A map of human microRNA variation uncovers unexpectedly high levels of variability
(BMC, 2012-08-24)Background: MicroRNAs (miRNAs) are key components of the gene regulatory network in many species. During the past few ...
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PhD Thesis
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 ...
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Article
Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13
(Hindawi, 2014-10-14)Angelman syndrome (AS, OMIM 105830) is a neurogenetic disorder with firm clinical diagnostic guidelines, characterized ...
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Article
Clinical and Technical Overview of Preimplantation Genetic Diagnosis for Fragile X Syndrome: Experience at the University Hospital Virgen del Rocio in Spain
(Hindawi, 2015-11-18)Fragile X syndrome (FXS) accounts for about one-half of cases of X-linked intellectual disability and is the most ...
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Article
Co-segregation of a homozygous SMN1 deletion and a heterozygous PMP22 duplication in a patient
(Wiley Open Access, 2016-07-03)Despite co-segregation of two different genetic neurological disorders within a family is rare, clinicians should take ...
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PhD Thesis
Correlación genotipo/fenotipo en la fibrosis quística
(1995-06-28)Los enfermos con fibrosis quística manifiestan una clínica heterogénea que podría tener una base genética, de forma tal ...
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Article
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 ...
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Article
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 ...
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Article
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) ...
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PhD Thesis
Diagnóstico genético preimplantatorio: implantación, desarrollo y actualización de un programa de diagnóstico genético preimplantatorio en un Sistema Sanitario Público.
(2016-01-28)El Diagnóstico Genético Preimplantatorio (PGD) surge con el objetivo de ofrecer una opción reproductiva a familias con ...
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Article
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 ...
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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 disease
(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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Article
Epigenetic Mechanisms in Hirschsprung Disease
(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
- PhD Thesis
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PhD Thesis
Evolución de los neonatos afectos de hernia diafragmática congénita de riesgo intermedio nacidos mediante EXIT (ex-utero intrapartum treatmeant)
(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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Article
EXIT procedure in twin pregnancy: a series of three cases from a single center
(BMC, 2014-07-30)Background: Indications for the ex utero intrapartum therapy (EXIT) procedure have evolved and nowadays in addition to ...
