Publicacións nas que colabora con Francisco Barros Angueira (26)

2020

  1. Clinical and neurophysiological response to ephedrine in a patient affected with slow-channel congenital myasthenic syndrome

    Revista de Neurologia, Vol. 71, Núm. 6, pp. 221-224

2019

  1. A qPCR expression assay of IFI44L gene differentiates viral from bacterial infections in febrile children

    Scientific Reports, Vol. 9, Núm. 1

  2. Mutación de novo en heterocigosis en el gen MBD5 asociada a heterotopía en banda bilateral y polimicrogiria

    Revista de neurologia, Vol. 69, Núm. 12, pp. 492-496

  3. Novel truncating variants expand the phenotypic spectrum of KAT6B-related disorders

    American Journal of Medical Genetics, Part A, Vol. 179, Núm. 2, pp. 290-294

2018

  1. Hypomyelinating leukodystrophy type 6. Clinical and neuroimaging key features in the detection of a new case

    Revista de Neurologia, Vol. 67, Núm. 9, pp. 339-342

  2. V232D mutation in patients with cystic fibrosis Not so rare, not so mild

    Medicine (United States), Vol. 97, Núm. 28

2017

  1. Copy number variation analysis of patients with intellectual disability from North-West Spain

    Gene, Vol. 626, pp. 189-199

2016

  1. Aicardi-goutières syndrome due to mutation of the IFIH1 gene with pontine involvement. A case report

    Revista de Neurologia, Vol. 63, Núm. 7, pp. 309-314

2015

  1. A maternally inherited 16p13.11-p12.3 duplication concomitant with a de novo SOX5 deletion in a male patient with global developmental delay, disruptive and obsessive behaviors and minor dysmorphic features

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 6, pp. 1315-1322

  2. Caracterización molecular y descripción fenotípica de dos casos con aberraciones cromosómicas recíprocas en la region de los síndromes de microdeleción/microduplicación 3q29

    Revista de Neurologia, Vol. 61, Núm. 6, pp. 255-260

  3. Clinical characterization of a male patient with the recently described 8q21.11 microdeletion syndrome

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 6, pp. 1369-1373

  4. Deleción en el gen RPS6KA3 en una mujer con un fenotipo clásico del síndrome de Coffin-Lowry incluyendo episodios de caída inducidos por estímulo

    Revista de Neurologia, Vol. 61, Núm. 2, pp. 94-96

  5. Interstitial microdeletions including the chromosome band 4q13.2 and the UBA6 gene as possible causes of intellectual disability and behavior disorder

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 12, pp. 3113-3120

2014

  1. A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease

    Journal of Medical Genetics, Vol. 51, Núm. 7, pp. 475-478

  2. Progressive heterotopic ossification: The arduousness of an accurate diagnosis

    Journal of Pediatrics, Vol. 164, Núm. 1, pp. 203-204

2013

  1. A Xq21.31 duplication without features of Prader-Willi syndrome

    Endocrine

  2. Microdeleción 16p11.2 asociada a convulsiones benignas de la primera infancia

    Revista de Neurologia

  3. Microdeleción 2q23.1 y hallazgos sindrómicos

    Revista de Neurologia

2011

  1. Evolutionary analyses of entire genomes do not support the association of mtdna mutations with ras/mapk pathway syndromes

    PLoS ONE, Vol. 6, Núm. 4

2008

  1. Three novel mutations in the CFTR gene identified in Galician patients

    Journal of Cystic Fibrosis, Vol. 7, Núm. 6, pp. 520-522