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2. 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. PubMed ID: 17171570 [Abstract] [Full Text] [Related]
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. PubMed ID: 16545802 [Abstract] [Full Text] [Related]
6. Current updates on genetic spectrum of usher syndrome. Ullah F, Zeeshan Ali M, Ahmad S, Muzammal M, Khan S, Khan J, Ahmad Khan M. Nucleosides Nucleotides Nucleic Acids; 2024 May 08; ():1-24. PubMed ID: 38718411 [Abstract] [Full Text] [Related]
11. [From gene to disease; genetic causes of hearing loss and visual impairment sometimes accompanied by vestibular problems (Usher syndrome)]. Pennings RJ, Kremer H, Deutman AF, Kimberling WJ, Cremers CW. Ned Tijdschr Geneeskd; 2002 Dec 07; 146(49):2354-8. PubMed ID: 12510399 [Abstract] [Full Text] [Related]
12. Usher syndrome in four siblings from a consanguineous family of Pakistani origin. Trop I, Schloss MD, Polomeno R, Der Kaloustian V. J Otolaryngol; 1995 Apr 07; 24(2):102-4. PubMed ID: 7602669 [Abstract] [Full Text] [Related]
13. Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2). Beneyto MM, Cuevas JM, Millán JM, Espinós C, Mateu E, González-Cabo P, Baiget M, Doménech M, Bernal S, Ayuso C, García-Sandoval B, Trujillo MJ, Borrego S, Antiñolo G, Carballo M, Nájera C. Ophthalmic Genet; 2000 Jun 07; 21(2):123-8. PubMed ID: 10916187 [Abstract] [Full Text] [Related]
18. [Molecular genetic study of Usher syndrome in Spain]. Jaijo T, Aller E, Beneyto M, Nájera C, Millán JM. Acta Otorrinolaringol Esp; 2005 Jun 07; 56(7):285-9. PubMed ID: 16240916 [Abstract] [Full Text] [Related]
19. A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21. Chaïb H, Kaplan J, Gerber S, Vincent C, Ayadi H, Slim R, Munnich A, Weissenbach J, Petit C. Hum Mol Genet; 1997 Jan 07; 6(1):27-31. PubMed ID: 9002666 [Abstract] [Full Text] [Related]