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Journal Abstract Search

134 related items for PubMed ID: 11212353

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  • 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. PubMed ID: 10094549
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  • 6. 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
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  • 7. Novel mutations in MYO7A and USH2A in Usher syndrome.
    Maubaret C, Griffoin JM, Arnaud B, Hamel C.
    Ophthalmic Genet; 2005 Mar; 26(1):25-9. PubMed ID: 15823922
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  • 8. 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. PubMed ID: 9703432
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  • 10. Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B.
    Hasson T, Heintzelman MB, Santos-Sacchi J, Corey DP, Mooseker MS.
    Proc Natl Acad Sci U S A; 1995 Oct 10; 92(21):9815-9. PubMed ID: 7568224
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  • 11. 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 10; 59(5):1074-83. PubMed ID: 8900236
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  • 13. 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. PubMed ID: 10447383
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  • 17. 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. PubMed ID: 9070921
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