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Results: 1 to 20 of 122

1.

Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome.

Liu XZ, Hope C, Walsh J, Newton V, Ke XM, Liang CY, Xu LR, Zhou JM, Trump D, Steel KP, Bundey S, Brown SD.

Am J Hum Genet. 1998 Sep;63(3):909-12. No abstract available.

PMID:
9718356
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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]
3.

Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib.

Cuevas JM, Espinós C, Millán JM, Sánchez F, Trujillo MJ, García-Sandoval B, Ayuso C, Nájera C, Beneyto M.

Mol Cell Probes. 1998 Dec;12(6):417-20.

PMID:
9843659
[PubMed - indexed for MEDLINE]
4.

CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

Astuto LM, Bork JM, Weston MD, Askew JW, Fields RR, Orten DJ, Ohliger SJ, Riazuddin S, Morell RJ, Khan S, Riazuddin S, Kremer H, van Hauwe P, Moller CG, Cremers CW, Ayuso C, Heckenlively JR, Rohrschneider K, Spandau U, Greenberg J, Ramesar R, Reardon W, Bitoun P, Millan J, Legge R, Friedman TB, Kimberling WJ.

Am J Hum Genet. 2002 Aug;71(2):262-75. Epub 2002 Jun 19.

PMID:
12075507
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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]
6.

Screen for usher syndrome 1B mutations in the ovine myosin VIIa gene.

Slatter T, Azarian SM, Tebbutt S, Maw M, Williams DS.

Adv Exp Med Biol. 2003;533:151-5. No abstract available.

PMID:
15180259
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
Free Article
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.

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
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
11.

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]
12.

A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation.

Liu XZ, Hope C, Liang CY, Zou JM, Xu LR, Cole T, Mueller RF, Bundey S, Nance W, Steel KP, Brown SD.

Am J Hum Genet. 1999 Apr;64(4):1221-5. No abstract available.

PMID:
10090909
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.

Ebermann I, Scholl HP, Charbel Issa P, Becirovic E, Lamprecht J, Jurklies B, Millán JM, Aller E, Mitter D, Bolz H.

Hum Genet. 2007 Apr;121(2):203-11. Epub 2006 Dec 15.

PMID:
17171570
[PubMed - indexed for MEDLINE]
14.

[Usher syndrome and possible heredity linked to X chromosome].

Baldellou Vázquez A, Navarro Zapata C, Albalad Cebrian E, Mateo Blanco A.

An Esp Pediatr. 1993 Nov;39(5):462-4. Spanish. No abstract available.

PMID:
8285470
[PubMed - indexed for MEDLINE]
15.

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
[PubMed - indexed for MEDLINE]
16.

Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F.

Ahmed ZM, Riazuddin S, Bernstein SL, Ahmed Z, Khan S, Griffith AJ, Morell RJ, Friedman TB, Riazuddin S, Wilcox ER.

Am J Hum Genet. 2001 Jul;69(1):25-34. Epub 2001 Jun 7.

PMID:
11398101
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Identification of a new mutation of the myosin VII head region in Usher syndrome type 1.

Liu XZ, Newton VE, Steel KP, Brown SD.

Hum Mutat. 1997;10(2):168-70. No abstract available.

PMID:
9259201
[PubMed - indexed for MEDLINE]
18.

RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections.

Zito I, Downes SM, Patel RJ, Cheetham ME, Ebenezer ND, Jenkins SA, Bhattacharya SS, Webster AR, Holder GE, Bird AC, Bamiou DE, Hardcastle AJ.

J Med Genet. 2003 Aug;40(8):609-15. No abstract available.

PMID:
12920075
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

The cellular function of the usher gene product myosin VIIa is specified by its ligands.

Wolfrum U.

Adv Exp Med Biol. 2003;533:133-42. Review. No abstract available.

PMID:
15180257
[PubMed - indexed for MEDLINE]
20.

Schizophrenia and mental retardation associated in a pedigree with retinitis pigmentosa and sensorineural deafness.

Sharp CW, Muir WJ, Blackwood DH, Walker M, Gosden C, St Clair DM.

Am J Med Genet. 1994 Dec 15;54(4):354-60.

PMID:
7726208
[PubMed - indexed for MEDLINE]

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