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Journal Abstract Search

342 related items for PubMed ID: 10909854

  • 21. A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family.
    Pras E, Frydman M, Levy-Nissenbaum E, Bakhan T, Raz J, Assia EI, Goldman B, Pras E.
    Invest Ophthalmol Vis Sci; 2000 Oct; 41(11):3511-5. PubMed ID: 11006246
    [Abstract] [Full Text] [Related]

  • 22. A gene causing autosomal recessive cataract maps to the short arm of chromosome 3.
    Pras E, Pras E, Bakhan T, Levy-Nissenbaum E, Lahat H, Assia EI, Garzozi HJ, Kastner DL, Goldman B, Frydman M.
    Isr Med Assoc J; 2001 Aug; 3(8):559-62. PubMed ID: 11519376
    [Abstract] [Full Text] [Related]

  • 23. A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28-29.
    Modamio-Høybjør S, Moreno-Pelayo MA, Mencía A, del Castillo I, Chardenoux S, Armenta D, Lathrop M, Petit C, Moreno F.
    Hum Genet; 2003 Jan; 112(1):24-8. PubMed ID: 12483295
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  • 24. A progressive early onset cataract gene maps to human chromosome 17q24.
    Armitage MM, Kivlin JD, Ferrell RE.
    Nat Genet; 1995 Jan; 9(1):37-40. PubMed ID: 7704021
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  • 25. A novel mutation in GJA3 (connexin46) for autosomal dominant congenital nuclear pulverulent cataract.
    Jiang H, Jin Y, Bu L, Zhang W, Liu J, Cui B, Kong X, Hu L.
    Mol Vis; 2003 Oct 24; 9():579-83. PubMed ID: 14627959
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  • 26. Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR).
    Toomes C, Downey LM, Bottomley HM, Scott S, Woodruff G, Trembath RC, Inglehearn CF.
    Mol Vis; 2004 Jan 15; 10():37-42. PubMed ID: 14737064
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  • 28. [A heterozygous transversion of connexin 50 in a family with congenital nuclear cataract in the northeast of China].
    Zheng JQ, Ma ZW, Sun HM.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Feb 15; 22(1):76-8. PubMed ID: 15696487
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  • 31. Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities.
    Bidinost C, Matsumoto M, Chung D, Salem N, Zhang K, Stockton DW, Khoury A, Megarbane A, Bejjani BA, Traboulsi EI.
    Invest Ophthalmol Vis Sci; 2006 Apr 15; 47(4):1274-80. PubMed ID: 16565358
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  • 34. Characterization of a new, dominant V124E mutation in the mouse alphaA-crystallin-encoding gene.
    Graw J, Löster J, Soewarto D, Fuchs H, Meyer B, Reis A, Wolf E, Balling R, Hrabé de Angelis M.
    Invest Ophthalmol Vis Sci; 2001 Nov 15; 42(12):2909-15. PubMed ID: 11687536
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  • 35. Evidence for a new locus for X-linked retinitis pigmentosa (RP23).
    Hardcastle AJ, Thiselton DL, Zito I, Ebenezer N, Mah TS, Gorin MB, Bhattacharya SS.
    Invest Ophthalmol Vis Sci; 2000 Jul 15; 41(8):2080-6. PubMed ID: 10892847
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  • 37. A missense mutation in the gammaD crystallin gene (CRYGD) associated with autosomal dominant "coral-like" cataract linked to chromosome 2q.
    Mackay DS, Andley UP, Shiels A.
    Mol Vis; 2004 Mar 17; 10():155-62. PubMed ID: 15041957
    [Abstract] [Full Text] [Related]

  • 38. A genome-wide scan maps a novel juvenile-onset primary open angle glaucoma locus to chromosome 5q.
    Pang CP, Fan BJ, Canlas O, Wang DY, Dubois S, Tam PO, Lam DS, Raymond V, Ritch R.
    Mol Vis; 2006 Feb 14; 12():85-92. PubMed ID: 16518310
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  • 39. Familial mesial temporal lobe epilepsy maps to chromosome 4q13.2-q21.3.
    Hedera P, Blair MA, Andermann E, Andermann F, D'Agostino D, Taylor KA, Chahine L, Pandolfo M, Bradford Y, Haines JL, Abou-Khalil B.
    Neurology; 2007 Jun 12; 68(24):2107-12. PubMed ID: 17377072
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