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Artículo
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
(2021)
Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors, are disorders characterized by elevated heterogeneity, both at the clinical and genetic levels. Our main goal was to address ...
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 ...
Patente
Sistema de análisis y gestión de imágenes quirúrgicas.
(Oficina Española de Patentes y Marcas , 2012-02-15)
Sistema de análisis y gestión de imágenes quirúrgicas.Se describe un sistema de análisis y gestión de imágenes quirúrgicas que permite monitorizar y registrar en tiempo real toda la actividad de un quirófano o entorno ...
Artículo
RMRP, RMST, FTX and IPW: novel potential long non-coding RNAs in medullary thyroid cancer
(BIOMED CENTRAL LTD, 2021)
The relevant role of long non-coding RNAs (lncRNAs) in cancer is currently a matter of increasing interest. Medullary thyroid cancer (MTC) is a rare neuroendocrine tumor (2–5% of all thyroid cancer) derived from the ...
Artículo
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 a mosaicism of ring chromosome 14. Ring chromosome 14 is a rare cytogenetic entity with clinical ...
Artículo
Listeriosis outbreak caused by contaminated stuffed pork, Andalusia, Spain, July to October 2019
(European Centre for Disease Prevention and Control, 2022-10-27)
Between 1 July and 26 October 2019 in Andalusia, Spain, a large outbreak with 207 confirmed cases of listeriosis was identified. Confirmed cases had a median age of 44 years (range: 0–94) and 114 were women (55.1%). Most ...
Artículo
Prenatal management and perinatal outcome in giant placental chorioangioma complicated with hydrops fetalis, fetal anemia and maternal mirror syndrome
(BioMed Central, 2012-07-28)
Background: Giant placental chorioangiomas have been associated with a number of severe fetal complications and high perinatal mortality. Case presentation: We report a case of giant chorioangioma with fetal hydrops, ...
Tesis Doctoral
Tesis Doctoral
Implementación de técnicas de secuenciación masiva para el desarrollo de nuevos algoritmos diagnósticos y bioinformáticos en distrófias hereditarias de retina
(2016-12-05)
Las distrofias hereditarias de retina (DHR) son un conjunto de enfermedades degenerativas y, generalmente, progresivas que se caracterizan por la afectación primaria de los fotorreceptores (bastones y conos). Se estima que ...
Tesis Doctoral
Diagnóstico genético preimplantatorio: implantación, desarrollo y actualización de un programa de diagnóstico genético preimplantatorio en un Sistema Sanitario Público.
(2016-01-28)
El Diagnóstico Genético Preimplantatorio (PGD) surge con el objetivo de ofrecer una opción reproductiva a familias con alto riesgo de transmitir enfermedades de base genética a su descendencia. Básicamente consiste en ...