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Items: 1 to 20 of 185

1.

Mutations in the myosin VIIA gene cause non-syndromic recessive deafness.

Liu XZ, Walsh J, Mburu P, Kendrick-Jones J, Cope MJ, Steel KP, Brown SD.

Nat Genet. 1997 Jun;16(2):188-90.

PMID:
9171832
2.

The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene.

Weil D, Küssel P, Blanchard S, Lévy G, Levi-Acobas F, Drira M, Ayadi H, Petit C.

Nat Genet. 1997 Jun;16(2):191-3.

PMID:
9171833
3.

Defective myosin VIIA gene responsible for Usher syndrome type 1B.

Weil D, Blanchard S, Kaplan J, Guilford P, Gibson F, Walsh J, Mburu P, Varela A, Levilliers J, Weston MD, et al.

Nature. 1995 Mar 2;374(6517):60-1.

PMID:
7870171
4.

Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.

Riazuddin S, Nazli S, Ahmed ZM, Yang Y, Zulfiqar F, Shaikh RS, Zafar AU, Khan SN, Sabar F, Javid FT, Wilcox ER, Tsilou E, Boger ET, Sellers JR, Belyantseva IA, Riazuddin S, Friedman TB.

Hum Mutat. 2008 Apr;29(4):502-11. doi: 10.1002/humu.20677.

PMID:
18181211
5.

Reinforcement of a minor alternative splicing event in MYO7A due to a missense mutation results in a mild form of retinopathy and deafness.

Ben Rebeh I, Morinière M, Ayadi L, Benzina Z, Charfedine I, Feki J, Ayadi H, Ghorbel A, Baklouti F, Masmoudi S.

Mol Vis. 2010 Sep 30;16:1898-906.

6.

Map refinement of the Usher syndrome type 1B gene, MYO7A, relative to 11q13.5 microsatellite markers.

Mouglabey YB, Nimri S, Sayegh F, El Zir E, Slim R.

Clin Genet. 1998 Aug;54(2):155-8.

PMID:
9761396
7.

Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells.

el-Amraoui A, Sahly I, Picaud S, Sahel J, Abitbol M, Petit C.

Hum Mol Genet. 1996 Aug;5(8):1171-8.

PMID:
8842737
8.

Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness.

Ouyang XM, Xia XJ, Verpy E, Du LL, Pandya A, Petit C, Balkany T, Nance WE, Liu XZ.

Hum Genet. 2002 Jul;111(1):26-30. Epub 2002 Jun 18.

PMID:
12136232
9.

Searching for evidence of DFNB2.

Astuto LM, Kelley PM, Askew JW, Weston MD, Smith RJ, Alswaid AF, Al-Rakaf M, Kimberling WJ.

Am J Med Genet. 2002 May 15;109(4):291-7.

PMID:
11992483
10.

Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity.

Janecke AR, Meins M, Sadeghi M, Grundmann K, Apfelstedt-Sylla E, Zrenner E, Rosenberg T, Gal A.

Hum Mutat. 1999;13(2):133-40.

PMID:
10094549
11.
12.

Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.

Ahmed ZM, Smith TN, Riazuddin S, Makishima T, Ghosh M, Bokhari S, Menon PS, Deshmukh D, Griffith AJ, Riazuddin S, Friedman TB, Wilcox ER.

Hum Genet. 2002 Jun;110(6):527-31. Epub 2002 May 3.

PMID:
12107438
13.

Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB.

Lévy G, Levi-Acobas F, Blanchard S, Gerber S, Larget-Piet D, Chenal V, Liu XZ, Newton V, Steel KP, Brown SD, Munnich A, Kaplan J, Petit C, Weil D.

Hum Mol Genet. 1997 Jan;6(1):111-6.

PMID:
9002678
14.

Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins.

Adato A, Weil D, Kalinski H, Pel-Or Y, Ayadi H, Petit C, Korostishevsky M, Bonne-Tamir B.

Am J Hum Genet. 1997 Oct;61(4):813-21.

15.

Unconventional myosins and the genetics of hearing loss.

Friedman TB, Sellers JR, Avraham KB.

Am J Med Genet. 1999 Sep 24;89(3):147-57. Review.

PMID:
10704189
16.

Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I.

Jaijo T, Aller E, Oltra S, Beneyto M, Nájera C, Ayuso C, Baiget M, Carballo M, Antiñolo G, Valverde D, Moreno F, Vilela C, Perez-Garrigues H, Navea A, Millán JM.

Hum Mutat. 2006 Mar;27(3):290-1.

PMID:
16470552
17.

Inner ear morphology is perturbed in two novel mouse models of recessive deafness.

Miller KA, Williams LH, Rose E, Kuiper M, Dahl HH, Manji SS.

PLoS One. 2012;7(12):e51284. doi: 10.1371/journal.pone.0051284. Epub 2012 Dec 12.

18.

Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I.

Bharadwaj AK, Kasztejna JP, Huq S, Berson EL, Dryja TP.

Exp Eye Res. 2000 Aug;71(2):173-81.

PMID:
10930322
19.

Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A.

Ben-Salem S, Rehm HL, Willems PJ, Tamimi ZA, Ayadi H, Ali BR, Al-Gazali L.

Mol Biol Rep. 2014 Jan;41(1):193-200. doi: 10.1007/s11033-013-2851-5. Epub 2013 Nov 6.

PMID:
24194196
20.

Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis.

Zwaenepoel I, Verpy E, Blanchard S, Meins M, Apfelstedt-Sylla E, Gal A, Petit C.

Hum Mutat. 2001;17(1):34-41.

PMID:
11139240

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