Publications (11) ELENA BUENO MARTÍNEZ publications

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2017

  1. A case of mosaicism in ectodermal dysplasia–skin fragility syndrome

    British Journal of Dermatology

  2. Familial seborrhoeic keratosis associated with multiple ‘pure reticulated acanthomas’ and infundibulocystic basal cell carcinomas

    British Journal of Dermatology, Vol. 177, Núm. 6, pp. 1654-1663

  3. Novel mutations in FATP4 gene in two families with ichthyosis prematurity syndrome

    Journal of the European Academy of Dermatology and Venereology

2016

  1. Acral peeling skin syndrome resulting from mutations in TGM5

    Journal of the European Academy of Dermatology and Venereology

2015

  1. A new mutation in the COL4A3 gene responsible for autosomal dominant Alport syndrome, which only generates hearing loss in some carriers

    European Journal of Medical Genetics, Vol. 58, Núm. 1, pp. 35-38

  2. Emopamil binding protein mutation in Conradi-Hünermann-Happle syndrome representing plaque-type psoriasis

    Indian Journal of Dermatology, Vol. 60, Núm. 2, pp. 216

  3. Novel compound heterozygous Thyroglobulin mutations c.745+1G>A/c.7036+2T>A associated with congenital goiter and hypothyroidism in a Vietnamese family. Identification of a new cryptic 5' splice site in the exon 6

    Molecular and Cellular Endocrinology, Vol. 404, pp. 102-112

  4. Study of the true clinical progression of autosomal dominant alport syndrome in a European population

    Kidney and Blood Pressure Research, Vol. 40, Núm. 4, pp. 435-442

2014

  1. COL4A4 gene study of a european population: Description of new mutations causing autosomal dominant alport syndrome

    International Journal of Molecular Epidemiology and Genetics, Vol. 5, Núm. 4, pp. 177-184

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

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

2013

  1. Molecular evidence of type 2 mosaicism in Gorlin syndrome

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