References

These sources were used to develop the Genetics Home Reference condition summary on Usher syndrome.

Adato A, Vreugde S, Joensuu T, Avidan N, Hamalainen R, Belenkiy O, Olender T, Bonne-Tamir B, Ben-Asher E, Espinos C, Millán JM, Lehesjoki AE, Flannery JG, Avraham KB, Pietrokovski S, Sankila EM, Beckmann JS, Lancet D. USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses. Eur J Hum Genet. 2002 Jun;10(6):339-50. PubMed citation
Ahmed ZM, Riazuddin S, Riazuddin S, Wilcox ER. The molecular genetics of Usher syndrome. Clin Genet. 2003 Jun;63(6):431-44. Review. PubMed citation
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. Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I. Am J Hum Genet. 2000 Dec;67(6):1569-74. Epub 2000 Nov 1. PubMed citation
Boëda B, El-Amraoui A, Bahloul A, Goodyear R, Daviet L, Blanchard S, Perfettini I, Fath KR, Shorte S, Reiners J, Houdusse A, Legrain P, Wolfrum U, Richardson G, Petit C. Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle. EMBO J. 2002 Dec 16;21(24):6689-99. PubMed citation
Eudy JD, Sumegi J. Molecular genetics of Usher syndrome. Cell Mol Life Sci. 1999 Oct 15;56(3-4):258-67. Review. PubMed citation
Friedman TB, Schultz JM, Ahmed ZM. Usher syndrome type 1: genotype-phenotype relationships. Retina. 2005 Dec;25(8 Suppl):S40-S42. Review. PubMed citation
Gene Review: Usher Syndrome Type 1
Gene Review: Usher Syndrome Type 2
Hmani-Aifa M, Ben Arab S, Kharrat K, Orten DJ, Boulila-Elgaied A, Drira M, Hachicha S, Kimberling WJ, Ayadi H. Distinctive audiometric features between USH2A and USH2B subtypes of Usher syndrome. J Med Genet. 2002 Apr;39(4):281-3. PubMed citation
Keats BJ, Savas S. Genetic heterogeneity in Usher syndrome. Am J Med Genet A. 2004 Sep 15;130A(1):13-6. Review. PubMed citation
Leroy BP, Aragon-Martin JA, Weston MD, Bessant DA, Willis C, Webster AR, Bird AC, Kimberling WJ, Payne AM, Bhattacharya SS. Spectrum of mutations in USH2A in British patients with Usher syndrome type II. Exp Eye Res. 2001 May;72(5):503-9. PubMed citation
Pennings RJ, Fields RR, Huygen PL, Deutman AF, Kimberling WJ, Cremers CW. Usher syndrome type III can mimic other types of Usher syndrome. Ann Otol Rhinol Laryngol. 2003 Jun;112(6):525-30. PubMed citation
Petit C. Usher syndrome: from genetics to pathogenesis. Annu Rev Genomics Hum Genet. 2001;2:271-97. Review. PubMed citation
Reiners J, Nagel-Wolfrum K, Jürgens K, Märker T, Wolfrum U. Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease. Exp Eye Res. 2006 Jul;83(1):97-119. Epub 2006 Mar 20. Review. PubMed citation
Reisser CF, Kimberling WJ, Otterstedde CR. Hearing loss in Usher syndrome type II is nonprogressive. Ann Otol Rhinol Laryngol. 2002 Dec;111(12 Pt 1):1108-11. PubMed citation
Seeliger M, Pfister M, Gendo K, Paasch S, Apfelstedt-Sylla E, Plinkert P, Zenner HP, Zrenner E. Comparative study of visual, auditory, and olfactory function in Usher syndrome. Graefes Arch Clin Exp Ophthalmol. 1999 Apr;237(4):301-7. PubMed citation
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. Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. 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]. PubMed citation


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