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Artículo
Exome Sequencing Reveals Novel and Recurrent Mutations with Clinical Significance in Inherited Retinal Dystrophies
(Public Library of Science, 2014)
This study aimed to identify the underlying molecular genetic cause in four Spanish families clinically diagnosed of Retinitis Pigmentosa (RP), comprising one autosomal dominant RP (adRP), two autosomal recessive RP ...
Artículo
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 by severe developmental delay and speech impairment, balanced and behavioral disturbance as well as ...
Artículo
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 of this condition is reflected in the number of underlying gene defects and the epistatic ...
Artículo
Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree
(BioMed Central Ltd., 2014-12-14)
Background: Molecular diagnosis of Inherited Retinal Dystrophies (IRD) has long been challenging due to the extensive clinical and genetic heterogeneity present in this group of disorders. Here, we describe the ...
Artículo
Comparative trial between the use of amoxicillin and amoxicillin clavulanate in the removal of third molars
(Medicina Oral Sl, 2014)
Objectives: The purpose of this study was to compare the use of amoxicillin (1g) vs amoxicillin and clavulanate (875/125mg) after extraction of retained third molars for prevention of infectious complications. Study Design: ...
Artículo
Reparación herniaria mediante abordaje laparoscópico totalmente extraperitoneal en una Unidad de Cirugia Mayor Ambulatoria. ¿Avanzamos hacía el futuro?
(2014)
Objetivos: La Cirugía Mayor Ambulatoria se ha convertido en un pilar imprescindible de la actividad asistencial, abarcando casi el 30% de la misma. Nuestro principal objetivo es presentar la reparación herniaria por vía ...
Artículo
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 secure the airway, obtain vascular access, administer surfactant and other resuscitation medications, ...
Artículo
Experience of Preimplantation Genetic Diagnosis with HLA Matching at the University Hospital Virgen del Rocío in Spain: Technical and Clinical Overview
(Hindawi, 2014)
Preimplantation genetic diagnosis (PGD) of genetic diseases, combined with HLA matching (PGD-HLA), is an option for couples at risk of transmitting a genetic disease to select unaffected embryos of an HLA tissue type ...