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Results: 1 to 20 of 122

1.

Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.

Weston MD, Kelley PM, Overbeck LD, Wagenaar M, Orten DJ, Hasson T, Chen ZY, Corey D, Mooseker M, Sumegi J, Cremers C, Moller C, Jacobson SG, Gorin MB, Kimberling WJ.

Am J Hum Genet. 1996 Nov;59(5):1074-83.

PMID:
8900236
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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
[PubMed - indexed for MEDLINE]
3.

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.

PMID:
9382091
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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
[PubMed - indexed for MEDLINE]
5.

Ala397Asp mutation of myosin VIIA gene segregating in a Spanish family with type-Ib Usher syndrome.

Espinós C, Millán JM, Sánchez F, Beneyto M, Nájera C.

Hum Genet. 1998 Jun;102(6):691-4.

PMID:
9703432
[PubMed - indexed for MEDLINE]
6.

Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.

Nájera C, Beneyto M, Blanca J, Aller E, Fontcuberta A, Millán JM, Ayuso C.

Hum Mutat. 2002 Jul;20(1):76-7.

PMID:
12112664
[PubMed - indexed for MEDLINE]
7.

Analysis of DNA elements that modulate myosin VIIA expression in humans.

Orten DJ, Weston MD, Kelley PM, Cremers CW, Wagenaar M, Jacobson SG, Kimberling WJ.

Hum Mutat. 1999 Oct;14(4):354. Corrected and republished in: Hum Mutat. 2000 Jan;15(1):114-5.

PMID:
10502787
[PubMed - indexed for MEDLINE]
8.

Identification of three novel mutations in the MYO7A gene.

Cuevas JM, Espinós C, Millán JM, Sánchez F, Trujillo MJ, Ayuso C, Beneyto M, Nájera C.

Hum Mutat. 1999 Aug 19;14(2):181.

PMID:
10447383
[PubMed - indexed for MEDLINE]
9.

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
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
11.

Erratum: analysis of DNA elements that modulate myosin VIIa expression in humans.

Orten DJ, Weston MD, Kelley PM, Cremers CW, Wagenaar M, Jacobson SG, Kimberling WJ.

Hum Mutat. 2000 Jan;15(1):114-5.

PMID:
10612833
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

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
[PubMed - indexed for MEDLINE]
Free Article
14.

Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.

Weston MD, Eudy JD, Fujita S, Yao S, Usami S, Cremers C, Greenberg J, Ramesar R, Martini A, Moller C, Smith RJ, Sumegi J, Kimberling WJ.

Am J Hum Genet. 2000 Apr;66(4):1199-210. Epub 2000 Mar 22. Erratum in: Am J Hum Genet 2000 Jun;66(6):2020. Greenburg J [corrected to Greenberg J].

PMID:
10729113
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Genetic analysis of a four generation Indian family with Usher syndrome: a novel insertion mutation in MYO7A.

Kumar A, Babu M, Kimberling WJ, Venkatesh CP.

Mol Vis. 2004 Nov 24;10:910-6.

PMID:
15592175
[PubMed - indexed for MEDLINE]
Free Article
16.

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
[PubMed - indexed for MEDLINE]
Free Article
17.

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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
19.

Novel mutations in MYO7A and USH2A in Usher syndrome.

Maubaret C, Griffoin JM, Arnaud B, Hamel C.

Ophthalmic Genet. 2005 Mar;26(1):25-9.

PMID:
15823922
[PubMed - indexed for MEDLINE]
20.

Electroretinographic anomalies in mice with mutations in Myo7a, the gene involved in human Usher syndrome type 1B.

Libby RT, Steel KP.

Invest Ophthalmol Vis Sci. 2001 Mar;42(3):770-8.

PMID:
11222540
[PubMed - indexed for MEDLINE]
Free Article

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