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Journal Abstract Search

209 related items for PubMed ID: 10090882

  • 1. Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene.
    Mansergh FC, Millington-Ward S, Kennan A, Kiang AS, Humphries M, Farrar GJ, Humphries P, Kenna PF.
    Am J Hum Genet; 1999 Apr; 64(4):971-85. PubMed ID: 10090882
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  • 3. A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy.
    Fu K, Hartlen R, Johns T, Genge A, Karpati G, Shoubridge EA.
    Hum Mol Genet; 1996 Nov; 5(11):1835-40. PubMed ID: 8923013
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  • 4. Haplogroup analysis supports a pathogenic role for the 7510T>C mutation of mitochondrial tRNA(Ser(UCN)) in sensorineural hearing loss.
    Labay V, Garrido G, Madeo AC, Nance WE, Friedman TB, Friedman PL, Del Castillo I, Griffith AJ.
    Clin Genet; 2008 Jan; 73(1):50-4. PubMed ID: 18028453
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  • 5. Genetic analysis of a four generation Indian family with Usher syndrome: a novel insertion mutation in MYO7A.
    Kumar A, Babu M, Kimberling WJ, Venkatesh CP.
    Mol Vis; 2004 Nov 24; 10():910-6. PubMed ID: 15592175
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  • 8. [Screening for mitochondrial DNA mutation in two pedigrees with nonsyndromic inherited sensorineural hearing loss].
    Li W, Han D, Yuan H, Wang Y, Cao J, Yang W, Jiang S.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2002 Feb 24; 19(1):64-7. PubMed ID: 11836692
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  • 9. A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome.
    Nakamura M, Nakano S, Goto Y, Ozawa M, Nagahama Y, Fukuyama H, Akiguchi I, Kaji R, Kimura J.
    Biochem Biophys Res Commun; 1995 Sep 05; 214(1):86-93. PubMed ID: 7669057
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  • 10. Genetic mapping of the gene for Usher syndrome: linkage analysis in a large Samaritan kindred.
    Bonné-Tamir B, Korostishevsky M, Kalinsky H, Seroussi E, Beker R, Weiss S, Godel V.
    Genomics; 1994 Mar 01; 20(1):36-42. PubMed ID: 8020954
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  • 12. Clinical and molecular genetic characterisation of a family segregating autosomal dominant retinitis pigmentosa and sensorineural deafness.
    Kenna P, Mansergh F, Millington-Ward S, Erven A, Kumar-Singh R, Brennan R, Farrar GJ, Humphries P.
    Br J Ophthalmol; 1997 Mar 01; 81(3):207-13. PubMed ID: 9135384
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  • 14. Haplotype analysis of the USH1D locus and genotype-phenotype correlations.
    Liu XZ, Blanton SH, Bitner-Glindzicz M, Pandya A, Landa B, MacArdle B, Rajput K, Bellman S, Webb BT, Ping X, Smith RJ, Nance WE.
    Clin Genet; 2001 Jul 01; 60(1):58-62. PubMed ID: 11531971
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  • 16. 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 01; 102(6):691-4. PubMed ID: 9703432
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  • 18. Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene.
    Verhoeven K, Ensink RJ, Tiranti V, Huygen PL, Johnson DF, Schatteman I, Van Laer L, Verstreken M, Van de Heyning P, Fischel-Ghodsian N, Zeviani M, Cremers CW, Willems PJ, Van Camp G.
    Eur J Hum Genet; 1999 Jan 01; 7(1):45-51. PubMed ID: 10094190
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  • 19. Spectrum of mutations in USH2A in British patients with Usher syndrome type II.
    Leroy BP, Aragon-Martin JA, Weston MD, Bessant DA, Willis C, Webster AR, Bird AC, Kimberling WJ, Payne AM, Bhattacharya SS.
    Exp Eye Res; 2001 May 01; 72(5):503-9. PubMed ID: 11311042
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