Publicaciones en colaboración con investigadores/as de Hospital Infantil Universitario Niño Jesus de Madrid (15)

2023

  1. Ichthyosis

    Nature Reviews Disease Primers, Vol. 9, Núm. 1

2022

  1. Hypotrichosis simplex of the scalp and peeling skin disease, two sides of the same coin

    Journal of the European Academy of Dermatology and Venereology

2020

  1. Multiple familial trichoepitheliomas: Ultrasonographic findings

    Skin Research and Technology

2019

  1. Imbalance in T-helper 17 cells and targeted therapy in an infant with SAM-like syndrome

    New England Journal of Medicine

2018

  1. Evidence of the high prevalence of neurological disorders in nonsyndromic X-linked recessive ichthyosis: a retrospective case series

    British Journal of Dermatology, Vol. 179, Núm. 4, pp. 933-939

  2. Novel clinical and molecular findings in Spanish patients with naevoid basal cell carcinoma syndrome

    British Journal of Dermatology, Vol. 178, Núm. 1, pp. 198-206

2016

  1. Two cases of autosomal recessive congenital ichthyosis due to CYP4F22 mutations: Expanding the genotype of self-healing collodion baby

    Pediatric Dermatology, Vol. 33, Núm. 2, pp. e48-e51

2014

  1. Early-onset acral basal cell carcinomas in Gorlin syndrome

    British Journal of Dermatology, Vol. 171, Núm. 5, pp. 1227-1229

2013

  1. Ectodermal dysplasia-skin fragility syndrome: A novel mutation in the PKP1 gene

    Clinical and Experimental Dermatology, Vol. 38, Núm. 7, pp. 787-790

  2. First symposium of ichthyosis experts

    Actas Dermo-Sifiliograficas

  3. Molecular evidence of type 2 mosaicism in Gorlin syndrome

    British Journal of Dermatology, Vol. 169, Núm. 6, pp. 1342-1345

2012

  1. Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: New insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature

    British Journal of Dermatology, Vol. 166, Núm. 4, pp. 830-838

  2. Prevalence of autosomal recessive congenital ichthyosis: A population-based study using the capture-recapture method in Spain

    Journal of the American Academy of Dermatology, Vol. 67, Núm. 2, pp. 240-244

2010

  1. Analysis of the STS gene in 40 patients with recessive X-linked ichthyosis: A high frequency of partial deletions in a Spanish population

    Journal of the European Academy of Dermatology and Venereology, Vol. 24, Núm. 10, pp. 1226-1229

  2. X-linked ichthyosis along with recessive dystrophic epidermolysis bullosa in the same patient

    Dermatology, Vol. 221, Núm. 2, pp. 113-116