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1,475 results

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Page 1
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: moreno pelayo ma, moreno f. N Engl J Med. 2002 Jan 24;346(4):243-9. doi: 10.1056/NEJMoa012052. N Engl J Med. 2002. PMID: 11807148 Free article.
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.
Del Castillo I, Moreno-Pelayo MA, Del Castillo FJ, Brownstein Z, Marlin S, Adina Q, Cockburn DJ, Pandya A, Siemering KR, Chamberlin GP, Ballana E, Wuyts W, Maciel-Guerra AT, Alvarez A, Villamar M, Shohat M, Abeliovich D, Dahl HH, Estivill X, Gasparini P, Hutchin T, Nance WE, Sartorato EL, Smith RJ, Van Camp G, Avraham KB, Petit C, Moreno F. Del Castillo I, et al. Among authors: moreno pelayo ma, moreno f. Am J Hum Genet. 2003 Dec;73(6):1452-8. doi: 10.1086/380205. Epub 2003 Oct 21. Am J Hum Genet. 2003. PMID: 14571368 Free PMC article.
Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).
Rodríguez-Ballesteros M, del Castillo FJ, Martín Y, Moreno-Pelayo MA, Morera C, Prieto F, Marco J, Morant A, Gallo-Terán J, Morales-Angulo C, Navas C, Trinidad G, Tapia MC, Moreno F, del Castillo I. Rodríguez-Ballesteros M, et al. Among authors: moreno pelayo ma, moreno f. Hum Mutat. 2003 Dec;22(6):451-6. doi: 10.1002/humu.10274. Hum Mutat. 2003. PMID: 14635104
A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy.
Rodríguez-Ballesteros M, Reynoso R, Olarte M, Villamar M, Morera C, Santarelli R, Arslan E, Medá C, Curet C, Völter C, Sainz-Quevedo M, Castorina P, Ambrosetti U, Berrettini S, Frei K, Tedín S, Smith J, Cruz Tapia M, Cavallé L, Gelvez N, Primignani P, Gómez-Rosas E, Martín M, Moreno-Pelayo MA, Tamayo M, Moreno-Barral J, Moreno F, del Castillo I. Rodríguez-Ballesteros M, et al. Among authors: moreno pelayo ma, moreno barral j, moreno f. Hum Mutat. 2008 Jun;29(6):823-31. doi: 10.1002/humu.20708. Hum Mutat. 2008. PMID: 18381613
A novel splice-site mutation in the GJB2 gene causing mild postlingual hearing impairment.
Gandía M, Del Castillo FJ, Rodríguez-Álvarez FJ, Garrido G, Villamar M, Calderón M, Moreno-Pelayo MA, Moreno F, del Castillo I. Gandía M, et al. Among authors: moreno pelayo ma, moreno f. PLoS One. 2013 Sep 6;8(9):e73566. doi: 10.1371/journal.pone.0073566. eCollection 2013. PLoS One. 2013. PMID: 24039984 Free PMC article.
Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations.
Hernández AM, Villamar M, Roselló L, Moreno-Pelayo MA, Moreno F, Del Castillo I. Hernández AM, et al. Among authors: moreno pelayo ma, moreno f. Am J Med Genet A. 2007 Apr 1;143A(7):757-62. doi: 10.1002/ajmg.a.31617. Am J Med Genet A. 2007. PMID: 17309062 No abstract available.
1,475 results