Publicacións nas que colabora con Uxía Saraiva Esperón Moldes (6)

2020

  1. Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation

    PLoS ONE, Vol. 15, Núm. 2

2019

  1. A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations

    Molecular Genetics and Genomic Medicine, Vol. 7, Núm. 5

  2. Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population

    Scientific Reports, Vol. 9, Núm. 1

  3. Novel and recurrent PNPLA1 mutations in spanish patients with autosomal recessive congenital ichthyosis; Evidence of a founder effect

    Acta Dermato-Venereologica, Vol. 99, Núm. 10, pp. 894-898

  4. Novel compound heterozygous FATP4 mutations caused ichthyosis prematurity syndrome in Spanish sisters

    Acta Paediatrica, International Journal of Paediatrics, Vol. 108, Núm. 4, pp. 763-765

2018

  1. ABCA12 mutations in patients with autosomal recessive congenital ichthyosis: evidence of a founder effect in the Spanish population and phenotype-genotype implications

    Journal of Dermatological Science