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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.
Citterio CE, Morales CM, Bouhours-Nouet N, Machiavelli GA, Bueno E, Gatelais F, Coutant R, González-Sarmiento R, Rivolta CM, Targovnik HM. Citterio CE, et al. Among authors: bueno e. Mol Cell Endocrinol. 2015 Mar 15;404:102-12. doi: 10.1016/j.mce.2015.01.032. Epub 2015 Jan 26. Mol Cell Endocrinol. 2015. PMID: 25633667
Vergleichende genomische Hybridisierung beim Basalzellkarzinom.
Palacios-Álvarez I, Bueno E, Fernández-López E, García JL, González-Sarmiento R. Palacios-Álvarez I, et al. Among authors: bueno e. J Dtsch Dermatol Ges. 2019 Feb;17(2):197-200. doi: 10.1111/ddg.13740_g. J Dtsch Dermatol Ges. 2019. PMID: 30762969 No abstract available.
Comparative genomic hybridization analysis of basal cell carcinoma.
Palacios-Álvarez I, Bueno E, Fernández-López E, García JL, González-Sarmiento R. Palacios-Álvarez I, et al. Among authors: bueno e. J Dtsch Dermatol Ges. 2019 Feb;17(2):197-200. doi: 10.1111/ddg.13740. Epub 2019 Jan 10. J Dtsch Dermatol Ges. 2019. PMID: 30629797 No abstract available.
Acral peeling skin syndrome resulting from mutations in TGM5.
Cañueto J, Bueno E, Rodríguez-Diaz E, Vicente-Díaz MA, Álvarez-Cuesta CC, Gonzalvo-Rodríguez P, González-Sarmiento R. Cañueto J, et al. Among authors: bueno e. J Eur Acad Dermatol Venereol. 2016 Mar;30(3):477-80. doi: 10.1111/jdv.12863. Epub 2014 Dec 16. J Eur Acad Dermatol Venereol. 2016. PMID: 25510201 No abstract available.
Novel mutations in FATP4 gene in two families with ichthyosis prematurity syndrome.
Bueno E, Cañueto J, García-Patos V, Vicente MA, Bodet-Castillo D, Hernández-Ruíz ME, González-Sarmiento R. Bueno E, et al. J Eur Acad Dermatol Venereol. 2017 Jan;31(1):e11-e13. doi: 10.1111/jdv.13584. Epub 2016 May 11. J Eur Acad Dermatol Venereol. 2017. PMID: 27168232 No abstract available.
Familial seborrhoeic keratosis associated with multiple 'pure reticulated acanthomas' and infundibulocystic basal cell carcinomas.
Agustí Martínez J, Bella-Navarro R, García-García AB, Bueno E, González-Sarmiento R, Navarro L, Sanchez-Sendra B, Revert A, Jordá E, Monteagudo C. Agustí Martínez J, et al. Among authors: bueno e. Br J Dermatol. 2017 Dec;177(6):1654-1663. doi: 10.1111/bjd.15736. Epub 2017 Dec 7. Br J Dermatol. 2017. PMID: 28627087 Review.
226 results