Publicacións nas que colabora con Laura Fachal Vilar (8)

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

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

2017

  1. Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation

    British Journal of Dermatology

2014

  1. Identification of a novel PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis

    British Journal of Dermatology

2012

  1. Characterization of TGM1 c.984+1G>A mutation identified in a homozygous carrier of lamellar ichthyosis

    International Journal of Dermatology, Vol. 51, Núm. 4, pp. 427-430

  2. Multiple local and recent founder effects of TGM1 in Spanish families.

    PloS one, Vol. 7, Núm. 4

2011

  1. Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): Evidence of founder effects

    British Journal of Dermatology, Vol. 165, Núm. 4, pp. 906-911