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Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants.
Morín M, Borreguero L, Booth KT, Lachgar M, Huygen P, Villamar M, Mayo F, Barrio LC, Santos Serrão de Castro L, Morales C, Del Castillo I, Arellano B, Tellería D, Smith RJH, Azaiez H, Moreno Pelayo MA. Morín M, et al. Among authors: telleria d. Sci Rep. 2020 Apr 10;10(1):6213. doi: 10.1038/s41598-020-63256-5. Sci Rep. 2020. PMID: 32277154 Free PMC article.
A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.
del Castillo I, Villamar M, Moreno-Pelayo MA, del Castillo FJ, Alvarez A, Tellería D, Menéndez I, Moreno F. del Castillo I, et al. Among authors: telleria d. N Engl J Med. 2002 Jan 24;346(4):243-9. doi: 10.1056/NEJMoa012052. N Engl J Med. 2002. PMID: 11807148 Free article.
Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.
Migliosi V, Modamio-Høybjør S, Moreno-Pelayo MA, Rodríguez-Ballesteros M, Villamar M, Tellería D, Menéndez I, Moreno F, Del Castillo I. Migliosi V, et al. Among authors: telleria d. J Med Genet. 2002 Jul;39(7):502-6. doi: 10.1136/jmg.39.7.502. J Med Genet. 2002. PMID: 12114484 Free PMC article. No abstract available.
The EUROGEM map of human chromosome 5.
Villamar M, Gomendio B, Perera E, Telleria D, Fizames C, San Millan JL, Weissenbach J, Schott JJ, Dixon M, Hollyoake M, et al. Villamar M, et al. Among authors: telleria d. Eur J Hum Genet. 1994;2(3):212-3. Eur J Hum Genet. 1994. PMID: 7834285 No abstract available.
A highly sensitive genetic protocol to detect NF1 mutations.
Valero MC, Martín Y, Hernández-Imaz E, Marina Hernández A, Meleán G, Valero AM, Javier Rodríguez-Álvarez F, Tellería D, Hernández-Chico C. Valero MC, et al. Among authors: telleria d. J Mol Diagn. 2011 Mar;13(2):113-22. doi: 10.1016/j.jmoldx.2010.09.002. J Mol Diagn. 2011. PMID: 21354044 Free PMC article.
Screening for mutations in the steroidogenic acute regulatory protein and steroidogenic factor-1 genes, and in CYP11A and dosage-sensitive sex reversal-adrenal hypoplasia gene on the X chromosome, gene-1 (DAX-1), in hyperandrogenic hirsute women.
Calvo RM, Asunción M, Tellería D, Sancho J, San Millán JL, Escobar-Morreale HF. Calvo RM, et al. Among authors: telleria d. J Clin Endocrinol Metab. 2001 Apr;86(4):1746-9. doi: 10.1210/jcem.86.4.7424. J Clin Endocrinol Metab. 2001. PMID: 11297612 Free article.
27 results