Publicacións nas que colabora con Jaime Toribio Pérez (12)

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

2007

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

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

2001

  1. Identification of Mycobacterium marinum in sea-urchin granulomas

    British Journal of Dermatology, Vol. 145, Núm. 1, pp. 114-116