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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

134 related items for PubMed ID: 1789083

  • 1.
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  • 2. Localization of the Aland Island eye disease locus to the pericentromeric region of the X chromosome by linkage analysis.
    Alitalo T, Kruse TA, Forsius H, Eriksson AW, de la Chapelle A.
    Am J Hum Genet; 1991 Jan; 48(1):31-8. PubMed ID: 1985461
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  • 3. Clinical and molecular characterization of a family affected with X-linked ocular albinism (OA1).
    Lam BL, Fingert JH, Shutt BC, Singleton EM, Merin LM, Brown HH, Sheffield VC, Stone EM.
    Ophthalmic Genet; 1997 Dec; 18(4):175-84. PubMed ID: 9457748
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  • 4. Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome.
    Glass IA, Good P, Coleman MP, Fullwood P, Giles MG, Lindsay S, Nemeth AH, Davies KE, Willshaw HA, Fielder A.
    J Med Genet; 1993 Dec; 30(12):1044-50. PubMed ID: 7907666
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  • 5. A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness.
    Mahmood U, Méjécase C, Ali SMA, Moosajee M, Kozak I.
    Genes (Basel); 2021 Jan 27; 12(2):. PubMed ID: 33513752
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  • 8. Aland island eye disease: clinical and electrophysiological studies of a Welsh family.
    Hawksworth NR, Headland S, Good P, Thomas NS, Clarke A.
    Br J Ophthalmol; 1995 May 27; 79(5):424-30. PubMed ID: 7612552
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  • 9. Duchenne muscular dystrophy: negative electroretinograms and normal dark adaptation. Reappraisal of assignment of X linked incomplete congenital stationary night blindness.
    Jensen H, Warburg M, Sjö O, Schwartz M.
    J Med Genet; 1995 May 27; 32(5):348-51. PubMed ID: 7616540
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  • 12. Electroretinograms in patients with achromatopsia.
    Andréasson S, Tornqvist K.
    Acta Ophthalmol (Copenh); 1991 Dec 27; 69(6):711-6. PubMed ID: 1789084
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  • 13. Aland eye disease: no albino misrouting.
    van Dorp DB, Eriksson AW, Delleman JW, van Vliet AG, Collewijn H, van Balen AT, Forsius HR.
    Clin Genet; 1985 Dec 27; 28(6):526-31. PubMed ID: 4075563
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  • 17. A novel CACNA1F gene mutation causes Aland Island eye disease.
    Jalkanen R, Bech-Hansen NT, Tobias R, Sankila EM, Mäntyjärvi M, Forsius H, de la Chapelle A, Alitalo T.
    Invest Ophthalmol Vis Sci; 2007 Jun 27; 48(6):2498-502. PubMed ID: 17525176
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  • 19. [Differential diagnosis of cone dystrophies].
    Sadowski B, Zrenner E.
    Ophthalmologe; 1994 Dec 27; 91(6):719-29. PubMed ID: 7849422
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