Listar Artículos (Cirugía) por autor "Antiñolo Gil, Guillermo"
Mostrando ítems 1-20 de 40
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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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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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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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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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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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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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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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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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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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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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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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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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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 ...