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187 related items for PubMed ID: 8014971

  • 1. Stargardt's disease is not allelic to the genes for neuronal ceroid lipofuscinoses.
    Gerber S, Odent S, Postel-Vinay A, Janin N, Dufier JL, Munnich A, Frezal J, Kaplan J.
    J Med Genet; 1994 Mar; 31(3):222-3. PubMed ID: 8014971
    [Abstract] [Full Text] [Related]

  • 2. Analysis of 21 Stargardt's disease families confirms a major locus on chromosome 1p with evidence for non-allelic heterogeneity in a minority of cases.
    Weber BH, Sander S, Kopp C, Walker D, Eckstein A, Wissinger B, Zrenner E, Grimm T.
    Br J Ophthalmol; 1996 Aug; 80(8):745-9. PubMed ID: 8949721
    [Abstract] [Full Text] [Related]

  • 3. Genetic linkage analysis of a variant of juvenile onset neuronal ceroid lipofuscinosis with granular osmiophilic deposits.
    O'Rawe A, Mitchison HM, Williams R, Wheeler R, Andermann E, Andermann F, Hart YM, Martin JJ, Philippart M, Stephenson JB, Gardiner RM, Mole SE.
    Neuropediatrics; 1997 Feb; 28(1):21-2. PubMed ID: 9151314
    [Abstract] [Full Text] [Related]

  • 4. Linkage analysis of late-infantile neuronal ceroid-lipofuscinosis.
    Sharp J, Savukoski M, Wheeler RB, Harris J, Järvelä I, Peltonen L, Gardiner M, Williams R.
    Am J Med Genet; 1995 Jun 05; 57(2):348-9. PubMed ID: 7668361
    [Abstract] [Full Text] [Related]

  • 5. Genetic analysis of Batten disease.
    Gardiner RM.
    J Inherit Metab Dis; 1993 Jun 05; 16(4):787-90. PubMed ID: 8412021
    [Abstract] [Full Text] [Related]

  • 6. A variant form of late infantile neuronal ceroid lipofuscinosis (CLN5) is not an allelic form of Batten (Spielmeyer-Vogt-Sjögren, CLN3) disease: exclusion of linkage to the CLN3 region of chromosome 16.
    Williams R, Santavuori P, Peltonen L, Gardiner RM, Järvelä I.
    Genomics; 1994 Mar 15; 20(2):289-90. PubMed ID: 8020979
    [Abstract] [Full Text] [Related]

  • 7. Molecular genetic analysis of neuronal ceroid lipofuscinosis.
    Mole SE, Gardiner M.
    Int J Neurol; 1994 Mar 15; 25-26():52-9. PubMed ID: 11980063
    [Abstract] [Full Text] [Related]

  • 8. Fine genetic mapping of the Batten disease locus (CLN3) by haplotype analysis and demonstration of allelic association with chromosome 16p microsatellite loci.
    Mitchison HM, Thompson AD, Mulley JC, Kozman HM, Richards RI, Callen DF, Stallings RL, Doggett NA, Attwood J, McKay TR.
    Genomics; 1993 May 15; 16(2):455-60. PubMed ID: 8314582
    [Abstract] [Full Text] [Related]

  • 9. Genetic heterogeneity in neuronal ceroid lipofuscinosis (NCL): evidence that the late-infantile subtype (Jansky-Bielschowsky disease; CLN2) is not an allelic form of the juvenile or infantile subtypes.
    Williams R, Vesa J, Järvelä I, McKay T, Mitchison H, Hellsten E, Thompson A, Callen D, Sutherland G, Luna-Battadano D.
    Am J Hum Genet; 1993 Oct 15; 53(4):931-5. PubMed ID: 8213822
    [Abstract] [Full Text] [Related]

  • 10. Genetic mapping of the Batten disease locus (CLN3) to the interval D16S288-D16S383 by analysis of haplotypes and allelic association.
    Mitchison HM, Taschner PE, O'Rawe AM, de Vos N, Phillips HA, Thompson AD, Kozman HM, Haines JL, Schlumpf K, D'Arigo K.
    Genomics; 1994 Jul 15; 22(2):465-8. PubMed ID: 7806237
    [Abstract] [Full Text] [Related]

  • 11. Exclusion of the cone-specific alpha-subunit of the transducin gene in Stargardt's disease.
    Gerber S, Rozet JM, Bonneau D, Souied E, Weissenbach J, Frezal J, Munnich A, Kaplan J.
    Hum Genet; 1995 Apr 15; 95(4):382-4. PubMed ID: 7705831
    [Abstract] [Full Text] [Related]

  • 12. Profound infantile neuroretinal dysfunction in a heterozygote for the CLN3 genetic defect.
    de los Reyes E, Dyken PR, Phillips P, Brodsky M, Bates S, Glasier C, Mrak RE.
    J Child Neurol; 2004 Jan 15; 19(1):42-6. PubMed ID: 15032383
    [Abstract] [Full Text] [Related]

  • 13. The neuronal ceroid-lipofuscinoses.
    Goebel HH.
    J Child Neurol; 1995 Nov 15; 10(6):424-37. PubMed ID: 8576551
    [Abstract] [Full Text] [Related]

  • 14. Linkage disequilibrium between the juvenile neuronal ceroid lipofuscinosis gene and marker loci on chromosome 16p 12.1.
    Lerner TJ, Boustany RM, MacCormack K, Gleitsman J, Schlumpf K, Breakefield XO, Gusella JF, Haines JL.
    Am J Hum Genet; 1994 Jan 15; 54(1):88-94. PubMed ID: 8279474
    [Abstract] [Full Text] [Related]

  • 15. [A special form of Stargardt's disease/fundus flavimaculatus].
    Suzuki R, Hirose T.
    Nippon Ganka Gakkai Zasshi; 1996 Jul 15; 100(7):562-7. PubMed ID: 8741342
    [Abstract] [Full Text] [Related]

  • 16. Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLN1) locus at 1p32: incorporation of linkage disequilibrium in multipoint analysis.
    Hellsten E, Vesa J, Speer MC, Mäkelä TP, Järvelä I, Alitalo K, Ott J, Peltonen L.
    Genomics; 1993 Jun 15; 16(3):720-5. PubMed ID: 8325646
    [Abstract] [Full Text] [Related]

  • 17. Infantile neuronal ceroid-lipofuscinosis is not an allelic form of Batten disease: exclusion of chromosome 16 region with linkage analyses.
    Jokiaho I, Puhakka L, Santavuori P, Manninen T, Nyman K, Peltonen L.
    Genomics; 1990 Oct 15; 8(2):391-3. PubMed ID: 2249855
    [Abstract] [Full Text] [Related]

  • 18. Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23.
    Sharp JD, Wheeler RB, Lake BD, Savukoski M, Järvelä IE, Peltonen L, Gardiner RM, Williams RE.
    Hum Mol Genet; 1997 Apr 15; 6(4):591-5. PubMed ID: 9097964
    [Abstract] [Full Text] [Related]

  • 19. Stargardt's disease and the ABCR gene.
    Westerfeld C, Mukai S.
    Semin Ophthalmol; 2008 Apr 15; 23(1):59-65. PubMed ID: 18214793
    [Abstract] [Full Text] [Related]

  • 20. A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1.
    Kaplan J, Gerber S, Larget-Piet D, Rozet JM, Dollfus H, Dufier JL, Odent S, Postel-Vinay A, Janin N, Briard ML.
    Nat Genet; 1993 Nov 15; 5(3):308-11. PubMed ID: 8275096
    [Abstract] [Full Text] [Related]

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