Publicacións nas que colabora con Manuel Javier Ginarte Val (14)

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 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

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

2013

  1. Autosomal recessive congenital ichthyosis

    Actas Dermo-Sifiliograficas

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. Clinical and molecular classification of ichthyosis

    Piel

  3. 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

2009

  1. Lamellar ichthyosis with a novel homozygous C-terminal mutation in the transglutaminase-1 gene

    International Journal of Dermatology, Vol. 48, Núm. 11, pp. 1195-1197

2008

  1. Papilomatosis oral

    Revista Clinica Espanola, Vol. 208, Núm. 6, pp. 305-306

2007

  1. Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)

    International Journal of Dermatology, Vol. 46, Núm. 1, pp. 61-63