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Items: 6

1.

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.

J Med Genet. 2002 Jul;39(7):502-6. No abstract available.

2.

[Evaluation of a family with sensorineural hearing loss due to the Q829X mutation in the OTOF gene].

Gallo-Terán J, Megía López R, Morales-Angulo C, del Castillo I, Moreno-Pelayo MA, Mazón Gutiérrez A, Moreno Herrero F.

Acta Otorrinolaringol Esp. 2004 Mar;55(3):120-5. Review. Spanish.

3.

[From gene to disease; non-syndromic, autosomal dominant, low-frequency sensorineural hearing loss (DFNA6/14)].

Pennings RJ, Cryns K, Huygen PL, van Camp G, Cremers CW.

Ned Tijdschr Geneeskd. 2003 Nov 1;147(44):2170-2. Review. Dutch.

PMID:
14626834
4.

Mitochondrial non-syndromic sensorineural hearing loss: a clinical, audiological and pathological study from Italy, and revision of the literature.

Berrettini S, Forli F, Passetti S, Rocchi A, Pollina L, Cecchetti D, Mancuso M, Siciliano G.

Biosci Rep. 2008 Feb;28(1):49-59. doi: 10.1042/BSR20070027. Review.

PMID:
18215147
5.

Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease.

Cryns K, Sivakumaran TA, Van den Ouweland JM, Pennings RJ, Cremers CW, Flothmann K, Young TL, Smith RJ, Lesperance MM, Van Camp G.

Hum Mutat. 2003 Oct;22(4):275-87. Review.

PMID:
12955714
6.

[HDR syndrome].

Kato R.

Ryoikibetsu Shokogun Shirizu. 2001;(33):791-2. Review. Japanese. No abstract available.

PMID:
11462688

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