Format
Items per page
Sort by

Send to:

Choose Destination

Links from PubMed

Items: 1 to 20 of 110

1.

The genomic structure of the gene defective in Usher syndrome type Ib (MYO7A).

Kelley PM, Weston MD, Chen ZY, Orten DJ, Hasson T, Overbeck LD, Pinnt J, Talmadge CB, Ing P, Mooseker MS, Corey D, Sumegi J, Kimberling WJ.

Genomics. 1997 Feb 15;40(1):73-9.

PMID:
9070921
2.
3.

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
4.

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.

5.

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
6.

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
7.

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
8.

Contig maps and genomic sequencing identify candidate genes in the usher 1C locus.

Higgins MJ, Day CD, Smilinich NJ, Ni L, Cooper PR, Nowak NJ, Davies C, de Jong PJ, Hejtmancik F, Evans GA, Smith RJ, Shows TB.

Genome Res. 1998 Jan;8(1):57-68.

9.

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
10.

A sequence-ready map of the Usher syndrome type III critical region on chromosome 3q.

Joensuu T, Hämäläinen R, Lehesjoki AE, de la Chapelle A, Sankila EM.

Genomics. 2000 Feb 1;63(3):409-16.

PMID:
10704288
11.

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.

12.

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.

13.

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
14.

A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene.

Bitner-Glindzicz M, Lindley KJ, Rutland P, Blaydon D, Smith VV, Milla PJ, Hussain K, Furth-Lavi J, Cosgrove KE, Shepherd RM, Barnes PD, O'Brien RE, Farndon PA, Sowden J, Liu XZ, Scanlan MJ, Malcolm S, Dunne MJ, Aynsley-Green A, Glaser B.

Nat Genet. 2000 Sep;26(1):56-60.

PMID:
10973248
15.

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
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.

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
18.
19.

A YAC, P1, and cosmid contig and 17 new polymorphic markers for the Werner syndrome region at 8p12-p21.

Yu CE, Oshima J, Hisama FM, Matthews S, Trask BJ, Schellenberg GD.

Genomics. 1996 Aug 1;35(3):431-40.

PMID:
8812476
20.

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
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk