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Listar Artículos (Instituto de Biomedicina de Sevilla (IBIS)) por autor "Antiñolo Gil, Guillermo"
Mostrando ítems 1-20 de 25
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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, 2012-08-24)Background: MicroRNAs (miRNAs) are key components of the gene regulatory network in many species. During the past few ...
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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, 2014-10-14)Angelman syndrome (AS, OMIM 105830) is a neurogenetic disorder with firm clinical diagnostic guidelines, characterized ...
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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, 2015-11-18)Fragile X syndrome (FXS) accounts for about one-half of cases of X-linked intellectual disability and is the most ...
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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, 2016-07-03)Despite co-segregation of two different genetic neurological disorders within a family is rare, clinicians should take ...
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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 ...
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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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Epigenetic Mechanisms in Hirschsprung Disease
Torroglosa, Ana; Villalba Benito, Leticia; Luzón-Toro, Berta; Fernández García, Raquel María; Antiñolo Gil, Guillermo; Borrego López, Salud (MDPI, 2019-06-26)Hirschsprung disease (HSCR, OMIM 142623) is due to a failure of enteric precursor cells derived from neural crest (EPCs) ...
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Artículo
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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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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Artículo
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 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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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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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, 2013-01-23)Hirschsprung disease (HSCR, OMIM 142623) is a developmental disorder characterized by the absence of ganglion cells along ...
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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, 2015-10-05)Background: The development of next-generation sequencing (NGS) technologies has a great impact in the human variation ...
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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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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., 2014-12-14)Background: Molecular diagnosis of Inherited Retinal Dystrophies (IRD) has long been challenging due to the extensive ...