Publicacións nas que colabora con Ana Vega Gliemmo (21)

2024

  1. Host gene expression signatures to identify infection type and organ dysfunction in children evaluated for sepsis: a multicentre cohort study

    The Lancet Child and Adolescent Health, Vol. 8, Núm. 5, pp. 325-338

2023

  1. Paediatric-onset generalized pustular psoriasis secondary to myeloperoxidase mutations

    Clinical and experimental dermatology, Vol. 48, Núm. 2, pp. 130-132

2022

  1. Hairy patches as early dermatological signs of Gorlin syndrome in a patient with a novel PTCH1 genetic variant

    Journal of Dermatology

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

  2. Life-threatening infections in children in Europe (the EUCLIDS Project): a prospective cohort study

    The Lancet Child and Adolescent Health, Vol. 2, Núm. 6, pp. 404-414

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. Annular elastolytic giant cell granuloma associated to late-onset X-linked dominant protoporphyria

    Dermatology, Vol. 227, Núm. 3, pp. 238-242

  2. 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

  4. Variable expression of naevoid basal cell carcinoma syndrome in a family with a novel mutation in the PTCH1 gene

    Clinical and Experimental Dermatology

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

  2. Birt-Hogg-Dubé syndrome in a patient with localized fibrofolliculomas and a novel mutation in the FLCN gene

    International Journal of Dermatology, Vol. 50, Núm. 8, pp. 968-971

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