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Items: 1 to 20 of 104

1.

Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.

Ouyang XM, Yan D, Du LL, Hejtmancik JF, Jacobson SG, Nance WE, Li AR, Angeli S, Kaiser M, Newton V, Brown SD, Balkany T, Liu XZ.

Hum Genet. 2005 Mar;116(4):292-9. Epub 2005 Jan 20.

PMID:
15660226
2.

Novel mutations in the USH1C gene in Usher syndrome patients.

Aparisi MJ, García-García G, Jaijo T, Rodrigo R, Graziano C, Seri M, Simsek T, Simsek E, Bernal S, Baiget M, Pérez-Garrigues H, Aller E, Millán JM.

Mol Vis. 2010 Dec 31;16:2948-54.

3.

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
4.

Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease.

Reiners J, Nagel-Wolfrum K, Jürgens K, Märker T, Wolfrum U.

Exp Eye Res. 2006 Jul;83(1):97-119. Epub 2006 Mar 20. Review.

PMID:
16545802
5.

Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis.

Ben-Rebeh I, Grati M, Bonnet C, Bouassida W, Hadjamor I, Ayadi H, Ghorbel A, Petit C, Masmoudi S.

Mol Vis. 2016 Jul 19;22:827-35. eCollection 2016.

6.

Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes.

Schultz JM, Bhatti R, Madeo AC, Turriff A, Muskett JA, Zalewski CK, King KA, Ahmed ZM, Riazuddin S, Ahmad N, Hussain Z, Qasim M, Kahn SN, Meltzer MR, Liu XZ, Munisamy M, Ghosh M, Rehm HL, Tsilou ET, Griffith AJ, Zein WM, Brewer CC, Riazuddin S, Friedman TB.

J Med Genet. 2011 Nov;48(11):767-75. doi: 10.1136/jmedgenet-2011-100262. Epub 2011 Sep 22.

PMID:
21940737
7.

Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.

Bolz H, von Brederlow B, Ramírez A, Bryda EC, Kutsche K, Nothwang HG, Seeliger M, del C-Salcedó Cabrera M, Vila MC, Molina OP, Gal A, Kubisch C.

Nat Genet. 2001 Jan;27(1):108-12.

PMID:
11138009
8.

Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D.

von Brederlow B, Bolz H, Janecke A, La O Cabrera A, Rudolph G, Lorenz B, Schwinger E, Gal A.

Hum Mutat. 2002 Mar;19(3):268-73.

PMID:
11857743
9.

Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.

Roux AF, Faugère V, Le Guédard S, Pallares-Ruiz N, Vielle A, Chambert S, Marlin S, Hamel C, Gilbert B, Malcolm S, Claustres M; French Usher Syndrome Collaboration.

J Med Genet. 2006 Sep;43(9):763-8. Epub 2006 May 5.

10.

USH1C: a rare cause of USH1 in a non-Acadian population and a founder effect of the Acadian allele.

Ouyang XM, Hejtmancik JF, Jacobson SG, Xia XJ, Li A, Du LL, Newton V, Kaiser M, Balkany T, Nance WE, Liu XZ.

Clin Genet. 2003 Feb;63(2):150-3.

PMID:
12630964
11.
12.

An update on the genetics of usher syndrome.

Millán JM, Aller E, Jaijo T, Blanco-Kelly F, Gimenez-Pardo A, Ayuso C.

J Ophthalmol. 2011;2011:417217. doi: 10.1155/2011/417217. Epub 2010 Dec 23.

13.

Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.

Weil D, El-Amraoui A, Masmoudi S, Mustapha M, Kikkawa Y, Lainé S, Delmaghani S, Adato A, Nadifi S, Zina ZB, Hamel C, Gal A, Ayadi H, Yonekawa H, Petit C.

Hum Mol Genet. 2003 Mar 1;12(5):463-71.

PMID:
12588794
14.

Digenic inheritance of deafness caused by 8J allele of myosin-VIIA and mutations in other Usher I genes.

Zheng QY, Scarborough JD, Zheng Y, Yu H, Choi D, Gillespie PG.

Hum Mol Genet. 2012 Jun 1;21(11):2588-98. doi: 10.1093/hmg/dds084. Epub 2012 Feb 29.

15.

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.

Le Quesne Stabej P, Saihan Z, Rangesh N, Steele-Stallard HB, Ambrose J, Coffey A, Emmerson J, Haralambous E, Hughes Y, Steel KP, Luxon LM, Webster AR, Bitner-Glindzicz M.

J Med Genet. 2012 Jan;49(1):27-36. doi: 10.1136/jmedgenet-2011-100468. Epub 2011 Dec 1.

16.

Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I.

Astuto LM, Weston MD, Carney CA, Hoover DM, Cremers CW, Wagenaar M, Moller C, Smith RJ, Pieke-Dahl S, Greenberg J, Ramesar R, Jacobson SG, Ayuso C, Heckenlively JR, Tamayo M, Gorin MB, Reardon W, Kimberling WJ.

Am J Hum Genet. 2000 Dec;67(6):1569-74. Epub 2000 Nov 1.

17.

Cochlear implantation in individuals with Usher type 1 syndrome.

Liu XZ, Angeli SI, Rajput K, Yan D, Hodges AV, Eshraghi A, Telischi FF, Balkany TJ.

Int J Pediatr Otorhinolaryngol. 2008 Jun;72(6):841-7. doi: 10.1016/j.ijporl.2008.02.013. Epub 2008 Apr 18.

PMID:
18395802
18.

Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1.

Rizel L, Safieh C, Shalev SA, Mezer E, Jabaly-Habib H, Ben-Neriah Z, Chervinsky E, Briscoe D, Ben-Yosef T.

Mol Vis. 2011;17:3548-55. Epub 2011 Dec 30.

19.

Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F.

Ammar-Khodja F, Faugère V, Baux D, Giannesini C, Léonard S, Makrelouf M, Malek R, Djennaoui D, Zenati A, Claustres M, Roux AF.

Eur J Med Genet. 2009 Jul-Aug;52(4):174-9. doi: 10.1016/j.ejmg.2009.03.018. Epub 2009 Apr 16.

PMID:
19375528
20.

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C.

Verpy E, Leibovici M, Zwaenepoel I, Liu XZ, Gal A, Salem N, Mansour A, Blanchard S, Kobayashi I, Keats BJ, Slim R, Petit C.

Nat Genet. 2000 Sep;26(1):51-5.

PMID:
10973247

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