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Mostrando ítems 1-18 de 18
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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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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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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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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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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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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 ...
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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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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, 2017-11-14)Myotonic dystrophy type 1 (DM1) is the most common adult muscular dystrophy and presents an autosomal dominant inheritance. ...
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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 ...