Publicaciones en las que colabora con Rogelio González Sarmiento (21)

2023

  1. Predominantly Pro-Inflammatory Phenotype with Mixed M1/M2 Polarization of Peripheral Blood Classical Monocytes and Monocyte-Derived Macrophages among Patients with Excessive Ethanol Intake

    Antioxidants, Vol. 12, Núm. 9

  2. The p.Pro2232Leu variant in the ChEL domain of thyroglobulin gene causes intracellular transport disorder and congenital hypothyroidism

    Endocrine, Vol. 80, Núm. 1, pp. 47-53

2022

  1. Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis

    Endocrine, Vol. 77, Núm. 1, pp. 86-101

  2. Polymorphisms in autophagy genes are genetic susceptibility factors in glioblastoma development

    BMC Cancer, Vol. 22, Núm. 1

2020

  1. Multiple familial trichoepitheliomas: Ultrasonographic findings

    Skin Research and Technology

2019

  1. Comparative genomic hybridization analysis of basal cell carcinoma

    JDDG - Journal of the German Society of Dermatology

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. Molecular analysis of thyroglobulin mutations found in patients with goiter and hypothyroidism

    Molecular and Cellular Endocrinology, Vol. 473, pp. 1-16

  3. 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

2017

  1. 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

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

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

2013

  1. Evaluation of Rare Variants in the New Fanconi Anemia Gene ERCC4 (FANCQ) as Familial Breast/Ovarian Cancer Susceptibility Alleles

    Human Mutation, Vol. 34, Núm. 12, pp. 1615-1618

  2. Molecular evidence of type 2 mosaicism in Gorlin syndrome

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

  3. The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins

    Carcinogenesis, Vol. 34, Núm. 11, pp. 2505-2511