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Journal Abstract Search

89 related items for PubMed ID: 8905195

  • 1. Cleft lip and cone-rod dystrophy in a consanguineous sibship.
    Ausems MG, Wittebol-Post D, Hennekam RC.
    Clin Dysmorphol; 1996 Oct; 5(4):307-11. PubMed ID: 8905195
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  • 7. Refinement of the locus for autosomal recessive cone-rod dystrophy (CORD8) linked to chromosome 1q23-q24 in a Pakistani family and exclusion of candidate genes.
    Ismail M, Abid A, Anwar K, Qasim Mehdi S, Khaliq S.
    J Hum Genet; 2006 Oct; 51(9):827-831. PubMed ID: 16897189
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  • 8. Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone-rod dystrophy.
    Ducroq D, Shalev S, Habib A, Munnich A, Kaplan J, Rozet JM.
    Eur J Hum Genet; 2006 Dec; 14(12):1269-73. PubMed ID: 16896346
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  • 9. Hypertelorism-microtia-clefting (HMC) syndrome.
    Verloes A.
    Genet Couns; 1994 Dec; 5(3):283-7. PubMed ID: 7811429
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  • 14. Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene.
    Jacobson SG, Buraczynska M, Milam AH, Chen C, Järvaläinen M, Fujita R, Wu W, Huang Y, Cideciyan AV, Swaroop A.
    Invest Ophthalmol Vis Sci; 1997 Sep; 38(10):1983-97. PubMed ID: 9331262
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  • 16. Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy.
    Ostergaard E, Batbayli M, Duno M, Vilhelmsen K, Rosenberg T.
    J Med Genet; 2010 Oct; 47(10):665-9. PubMed ID: 20805371
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  • 17. Increased occurrence of cleft lip in glycogen storage disease type II (GSDII): exclusion of a contiguous gene syndrome in two patients by presence of intragenic mutations including a novel nonsense mutation Gln58Stop.
    Huie ML, Kasper JS, Arn PH, Greenberg CR, Hirschhorn R.
    Am J Med Genet; 1999 Jul 02; 85(1):5-8. PubMed ID: 10377006
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  • 18. Identification of a novel R552O mutation in exon 13 of the beta-subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa.
    Valverde D, Baiget M, Seminago R, del Rio E, García-Sandoval B, del Rio T, Bayés M, Balcells S, Martínez A, Grinberg D, Ayuso C.
    Hum Mutat; 1996 Jul 02; 8(4):393-4. PubMed ID: 8956055
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  • 19. Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.
    den Hollander AI, Lopez I, Yzer S, Zonneveld MN, Janssen IM, Strom TM, Hehir-Kwa JY, Veltman JA, Arends ML, Meitinger T, Musarella MA, van den Born LI, Fishman GA, Maumenee IH, Rohrschneider K, Cremers FP, Koenekoop RK.
    Invest Ophthalmol Vis Sci; 2007 Dec 02; 48(12):5690-8. PubMed ID: 18055821
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  • 20. Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa.
    Maw MA, Kennedy B, Knight A, Bridges R, Roth KE, Mani EJ, Mukkadan JK, Nancarrow D, Crabb JW, Denton MJ.
    Nat Genet; 1997 Oct 02; 17(2):198-200. PubMed ID: 9326942
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