Moreno-Pelayo MA - Search Results

1

Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss.

Mencía A, Modamio-Høybjør S, Redshaw N, Morín M, Mayo-Merino F, Olavarrieta L, Aguirre LA, del Castillo I, Steel KP, Dalmay T, Moreno F, Moreno-Pelayo MA. Mencía A, et al. Nat Genet. 2009 May;41(5):609-13. doi: 10.1038/ng.355. Epub 2009 Apr 12. Nat Genet. 2009. PMID: 19363479

2

A cysteine substitution in the zona pellucida domain of alpha-tectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family.

Moreno-Pelayo MA, del Castillo I, Villamar M, Romero L, Hernández-Calvín FJ, Herraiz C, Barberá R, Navas C, Moreno F. Moreno-Pelayo MA, et al. J Med Genet. 2001 May;38(5):E13. doi: 10.1136/jmg.38.5.e13. J Med Genet. 2001. PMID: 11333869 Free PMC article. No abstract available.

3

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 Free article.

4

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.

5

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.

6

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

7

[Incidence of A1555G mutations in the mitochondrial DNA and 35delG in the GJB2 gene (connexin-26) in families with late onset non-syndromic sensorineural hearing loss from Cantabria].

Gallo-Terán J, Morales-Angulo C, del Castillo I, Villamar M, Moreno-Pelayo MA, García-Mantilla J, Moreno F. Gallo-Terán J, et al. Acta Otorrinolaringol Esp. 2002 Oct;53(8):563-71. doi: 10.1016/s0001-6519(02)78349-0. Acta Otorrinolaringol Esp. 2002. PMID: 12530196 Free article. Spanish.

8

De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome.

Alvarez A, del Castillo I, Pera A, Villamar M, Moreno-Pelayo MA, Moreno F, Moreno R, Tapia MC. Alvarez A, et al. Am J Med Genet A. 2003 Feb 15;117A(1):89-91. doi: 10.1002/ajmg.a.10851. Am J Med Genet A. 2003. PMID: 12548749 No abstract available.

9

[Audiometric features of familial hearing impairment transmitted by mitochondrial inheritance (A1555G)].

Morales Angulo C, Gallo Terán J, del Castillo I, Moreno Pelayo MA, García-Mantilla J, Moreno Herrero F. Morales Angulo C, et al. Acta Otorrinolaringol Esp. 2002 Nov;53(9):641-8. doi: 10.1016/s0001-6519(02)78358-1. Acta Otorrinolaringol Esp. 2002. PMID: 12584878 Free article. Spanish.

10

[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.

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