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180 related items for PubMed ID: 7887419

  • 1. Batten disease gene, CLN3: linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypes.
    Mitchison HM, O'Rawe AM, Taschner PE, Sandkuijl LA, Santavuori P, de Vos N, Breuning MH, Mole SE, Gardiner RM, Järvelä IE.
    Am J Hum Genet; 1995 Mar; 56(3):654-62. PubMed ID: 7887419
    [Abstract] [Full Text] [Related]

  • 2. Refined localization of the Batten disease gene (CLN3) by haplotype and linkage disequilibrium mapping to D16S288-D16S383 and exclusion from this region of a variant form of Batten disease with granular osmiophilic deposits.
    Mitchison HM, O'Rawe AM, Lerner TJ, Taschner PE, Schlumpf K, D'Arigo K, de Vos N, Gormally E, Phillips HA, Thompson AD.
    Am J Med Genet; 1995 Jun 05; 57(2):312-5. PubMed ID: 7668353
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  • 3. 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
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  • 4. 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
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  • 7. Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease).
    Taschner PE, de Vos N, Thompson AD, Callen DF, Doggett N, Mole SE, Dooley TP, Barth PG, Breuning MH.
    Am J Hum Genet; 1995 Mar 15; 56(3):663-8. PubMed ID: 7887420
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  • 8. Physical map of the region containing the gene for Batten disease (CLN3).
    Järvelä IE, Mitchison HM, Callen DF, Lerner TJ, Doggett NA, Taschner PE, Gardiner RM, Mole SE.
    Am J Med Genet; 1995 Jun 05; 57(2):316-9. PubMed ID: 7668354
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  • 10. 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 05; 8(2):391-3. PubMed ID: 2249855
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  • 11. Batten disease (Spielmeyer-Vogt disease, juvenile onset neuronal ceroid-lipofuscinosis) gene (CLN3) maps to human chromosome 16.
    Gardiner M, Sandford A, Deadman M, Poulton J, Cookson W, Reeders S, Jokiaho I, Peltonen L, Eiberg H, Julier C.
    Genomics; 1990 Oct 05; 8(2):387-90. PubMed ID: 2249854
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  • 12. YAC and cosmid contigs spanning the Batten disease (CLN3) region at 16p12.1-p11.2.
    Järvelä IE, Mitchison HM, O'Rawe AM, Munroe PB, Taschner PE, de Vos N, Lerner TJ, D'Arigo KL, Callen DF, Thompson AD.
    Genomics; 1995 Sep 20; 29(2):478-89. PubMed ID: 8666398
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  • 13. Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium.
    Cell; 1995 Sep 22; 82(6):949-57. PubMed ID: 7553855
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  • 14. Infantile neuronal ceroid lipofuscinosis (CLN1): linkage disequilibrium in the Finnish population and evidence that variant late infantile form (variant CLN2) represents a nonallelic locus.
    Järvelä I.
    Genomics; 1991 Jun 22; 10(2):333-7. PubMed ID: 2071142
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  • 15. 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]

  • 16. Mapping the gene for juvenile onset neuronal ceroid lipofuscinosis to chromosome 16 by linkage analysis.
    Gardiner RM.
    Am J Med Genet; 1992 Feb 15; 42(4):539-41. PubMed ID: 1351702
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  • 17. 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]

  • 18. Rapid diagnostic test for the major mutation underlying Batten disease.
    Järvelä I, Mitchison HM, Munroe PB, O'Rawe AM, Mole SE, Syvänen AC.
    J Med Genet; 1996 Dec 15; 33(12):1041-2. PubMed ID: 9004140
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  • 19. Regional mapping of the Batten disease locus (CLN3) to human chromosome 16p12.
    Callen DF, Baker E, Lane S, Nancarrow J, Thompson A, Whitmore SA, MacLennan DH, Berger R, Cherif D, Järvelä I.
    Am J Hum Genet; 1991 Dec 15; 49(6):1372-7. PubMed ID: 1746562
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  • 20. Mutated genes in juvenile and variant late infantile neuronal ceroid lipofuscinoses encode lysosomal proteins.
    Vesa J, Peltonen L.
    Curr Mol Med; 2002 Aug 15; 2(5):439-44. PubMed ID: 12125809
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