Moreno-Pelayo MA - Search Results

1

Maternally inherited non-syndromic hearing impairment in a Spanish family with the 7510T>C mutation in the mitochondrial tRNA(Ser(UCN)) gene.

del Castillo FJ, Villamar M, Moreno-Pelayo MA, Almela JJ, Morera C, Adiego I, Moreno F, del Castillo I. del Castillo FJ, et al. J Med Genet. 2002 Dec;39(12):e82. doi: 10.1136/jmg.39.12.e82. J Med Genet. 2002. PMID: 12471220 Free PMC article. No abstract available.

2

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. N Engl J Med. 2002 Jan 24;346(4):243-9. doi: 10.1056/NEJMoa012052. N Engl J Med. 2002. PMID: 11807148

3

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. 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.

4

A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28-29.

Modamio-Høybjør S, Moreno-Pelayo MA, Mencía A, del Castillo I, Chardenoux S, Armenta D, Lathrop M, Petit C, Moreno F. Modamio-Høybjør S, et al. Hum Genet. 2003 Jan;112(1):24-8. doi: 10.1007/s00439-002-0836-x. Epub 2002 Oct 16. Hum Genet. 2003. PMID: 12483295

5

[Familial susceptibility to aminoglycoside ototoxicity due to the A1555G mutation in the mitochondrial DNA].

Gallo-Terán J, Morales-Angulo C, del Castillo I, Moreno-Pelayo MA, Mazón A, Moreno F. Gallo-Terán J, et al. Med Clin (Barc). 2003 Jul 12;121(6):216-8. doi: 10.1016/s0025-7753(03)73909-8. Med Clin (Barc). 2003. PMID: 12882732 Spanish.

6

Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss.

del Castillo FJ, Rodríguez-Ballesteros M, Martín Y, Arellano B, Gallo-Terán J, Morales-Angulo C, Ramírez-Camacho R, Cruz Tapia M, Solanellas J, Martínez-Conde A, Villamar M, Moreno-Pelayo MA, Moreno F, del Castillo I. del Castillo FJ, et al. J Med Genet. 2003 Aug;40(8):632-6. doi: 10.1136/jmg.40.8.632. J Med Genet. 2003. PMID: 12920080 Free PMC article. No abstract available.

7

Uniparental disomy of chromosome 13q causing homozygosity for the 35delG mutation in the gene encoding connexin26 (GJB2) results in prelingual hearing impairment in two unrelated Spanish patients.

Alvarez A, del Castillo I, Pera A, Villamar M, Moreno-Pelayo MA, Rivera T, Solanellas J, Moreno F. Alvarez A, et al. J Med Genet. 2003 Aug;40(8):636-9. doi: 10.1136/jmg.40.8.636. J Med Genet. 2003. PMID: 12920081 Free PMC article. No abstract available.

8

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. 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.

9

DFNA49, a novel locus for autosomal dominant non-syndromic hearing loss, maps proximal to DFNA7/DFNM1 region on chromosome 1q21-q23.

Moreno-Pelayo MA, Modamio-Høybjør S, Mencía A, del Castillo I, Chardenoux S, Fernández-Burriel M, Lathrop M, Petit C, Moreno F. Moreno-Pelayo MA, et al. J Med Genet. 2003 Nov;40(11):832-6. doi: 10.1136/jmg.40.11.832. J Med Genet. 2003. PMID: 14627674 Free PMC article. No abstract available.

10

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. Hum Mutat. 2003 Dec;22(6):451-6. doi: 10.1002/humu.10274. Hum Mutat. 2003. PMID: 14635104

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