Artículos (Instituto de Biomedicina de Sevilla (IBIS)): Envíos recientes
Mostrando ítems 181-200 de 303
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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
(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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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 ...
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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 ...
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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 ...
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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
(Hindawi, 2014)Preimplantation genetic diagnosis (PGD) of genetic diseases, combined with HLA matching (PGD-HLA), is an option for ...
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Alcoholic patients' response to their disease: perspective of patients and family
(Scielo, 2015)Objective: to know the perspective of alcoholic patients and their families about the behavioral characteristics of the ...
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Content validation of the Self-perception of Family Health Status scale using the Delphi technique
(Scielo, 2013)OBJECTIVE: To ascertain the content validity of the Self-perception of Family Health Status scale. METHOD: A ...
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Consistencia interna y validez de un cuestionario para medir la autopercepción del estado de salud familiar
(Scielo, 2012)Fundamentos: La salud familiar determina y está determinada por la capacidad de funcionamiento efectivo de la familia ...
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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
(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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Experience of Preimplantation Genetic Diagnosis for Hemophilia at the University Hospital Virgen Del Rocío in Spain: Technical and Clinical Overview
(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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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 ...
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The carotid body: a physiologically relevant germinal niche in the adult peripheral nervous system
(Springer, 2018-11-29)Oxygen constitutes a vital element for the survival of every single cell in multicellular aerobic organisms like mammals. ...
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Pathways systematically associated to Hirschsprung’s disease
(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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Hypertrophic Cardiomyopathy due to Mitochondrial Disease: Prenatal Diagnosis, Management, and Outcome
(Hindawi, 2012)A case of prenatally diagnosed fetal hypertrophic cardiomyopathy is reported. The mother was referred to our department ...
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Novel One-Step Multiplex PCR-Based Method for HLA Typing and Preimplantational Genetic Diagnosis of B-Thalassemia
(Hindawi, 2013)Preimplantation genetic diagnosis (PGD) of single gene disorders, combined with HLA matching (PGD-HLA), has emerged as a ...
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The social impact of Parkinson’s disease in Spain: Report by the Spanish Foundation for the Brain
(Elsevier, 2016)Introduction: Understanding the social and economic impact of Parkinson’s disease is essential for resource planning and ...
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Parieto-motor Cortical Dysfunction in Primary Cervical Dystonia
(Elsevier, 2014)Background: Dystonia is considered as a motor network disorder involving the dysfunction of the posterior parietal cortex, ...
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Effects of Two Weeks of Cerebellar Theta Burst Stimulation in Cervical Dystonia Patients
(Elsevier, 2014)Dystonia is generally regarded as a disorder of the basal ganglia and their efferent connections to the thalamus and ...
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Mutational Spectrum of Semaphorin 3A and Semaphorin 3D Genes in Spanish Hirschsprung patients
(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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Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14
(Hindawi Publishing Corporation, 2012)Monosomy of chromosome 14 has been reported in only a few prenatal cases. Generally, this monosomy is associated with ...