ELENA
BUENO MARTINEZ
PROFESOR AYUDANTE DOCTOR
Rogelio
González Sarmiento
Publications by the researcher in collaboration with Rogelio González Sarmiento (19)
2024
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Chloroquine-induced DNA damage synergizes with DNA repair inhibitors causing cancer cell death
Frontiers in Oncology, Vol. 14
2023
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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
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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
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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
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Polymorphisms in autophagy genes are genetic susceptibility factors in glioblastoma development
BMC Cancer, Vol. 22, Núm. 1
2020
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Multiple familial trichoepitheliomas: Ultrasonographic findings
Skin Research and Technology
2019
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Comparative genomic hybridization analysis of basal cell carcinoma
JDDG - Journal of the German Society of Dermatology
2018
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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
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Molecular analysis of thyroglobulin mutations found in patients with goiter and hypothyroidism
Molecular and Cellular Endocrinology, Vol. 473, pp. 1-16
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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
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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
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Novel mutations in FATP4 gene in two families with ichthyosis prematurity syndrome
Journal of the European Academy of Dermatology and Venereology
2016
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Acral peeling skin syndrome resulting from mutations in TGM5
Journal of the European Academy of Dermatology and Venereology
2015
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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
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Emopamil binding protein mutation in Conradi-Hünermann-Happle syndrome representing plaque-type psoriasis
Indian Journal of Dermatology, Vol. 60, Núm. 2, pp. 216
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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
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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
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Early-onset acral basal cell carcinomas in Gorlin syndrome
British Journal of Dermatology, Vol. 171, Núm. 5, pp. 1227-1229
2013
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Molecular evidence of type 2 mosaicism in Gorlin syndrome
British Journal of Dermatology, Vol. 169, Núm. 6, pp. 1342-1345