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Listar por autor "Peciña, Ana"
Mostrando ítems 1-8 de 8
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Artículo
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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Cloning and expression of the algL gene, encoding the Azotobacter chroococcum alginate lyase: Purification and characterization of the enzyme
Peciña, Ana; Pascual, Alberto; Paneque Guerrero, Antonio (American Society for Microbiology, 1999)The alginate lyase-encoding gene (algL) of Azotobacter chroococcum was localized to a 3.1-kb EcoRI DNA fragment that ...
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Artículo
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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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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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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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. ...