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Journal Abstract Search

145 related items for PubMed ID: 8182719

  • 1. Linkage disequilibrium between FD1-D9S202 haplotypes and the Friedreich's ataxia locus in a central-southern Italian population.
    Pianese L, Cocozza S, Campanella G, Castaldo I, Cavalcanti F, De Michele G, Filla A, Monticelli A, Munaro M, Redolfi E.
    J Med Genet; 1994 Feb; 31(2):133-5. PubMed ID: 8182719
    [Abstract] [Full Text] [Related]

  • 2. Friedreich's disease. A linkage study in southern and central Italy.
    Cavalcanti F, Cocozza S, Filla A, De Michele G, Pianese L, Porcellini A, Monticelli A, Pandolfo M, Banfi S, Varrone S.
    Acta Neurol (Napoli); 1992 Feb; 14(4-6):519-23. PubMed ID: 1363458
    [Abstract] [Full Text] [Related]

  • 3. Linkage disequilibrium analysis of Friedreich's ataxia in 140 Caucasian families: positioning of the disease locus and evaluation of allelic heterogeneity.
    Sirugo G, Cocozza S, Brice A, Cavalcanti F, De Michele G, Dones I, Filla A, Koenig M, Lorenzetti D, Monticelli A.
    Eur J Hum Genet; 1993 Feb; 1(2):133-43. PubMed ID: 7914465
    [Abstract] [Full Text] [Related]

  • 4. Mapping of Friedreich's ataxia locus by identification of recombination events in patients homozygous by descent.
    Monrós E, Smeyers P, Rodius F, Cañizares J, Moltó MD, Vilchez JJ, Pandolfo M, Lopez-Arlandis J, de Frutos R, Prieto F.
    Eur J Hum Genet; 1994 Feb; 2(4):291-9. PubMed ID: 7704559
    [Abstract] [Full Text] [Related]

  • 5. A dinucleotide repeat polymorphism (D9S202) in the Friedreich's ataxia region on chromosome 9q13-q21.1.
    Pandolfo M, Munaro M, Cocozza S, Redolfi EM, Pianese L, Cavalcanti F, Monticelli A, Di Donato S.
    Hum Mol Genet; 1993 Jun; 2(6):822. PubMed ID: 8353506
    [No Abstract] [Full Text] [Related]

  • 6. Mapping the Friedreich ataxia locus (FRDA) by linkage disequilibrium analysis with highly polymorphic microsatellites.
    Sirugo G, Duclos F, Fujita R, Keats JB, Pandolfo M, Mandel JL, Koenig M.
    Biomed Pharmacother; 1994 Jun; 48(5-6):219-24. PubMed ID: 7999982
    [Abstract] [Full Text] [Related]

  • 7. Mapping of the second Friedreich's ataxia (FRDA2) locus to chromosome 9p23-p11: evidence for further locus heterogeneity.
    Christodoulou K, Deymeer F, Serdaroğlu P, Ozdemir C, Poda M, Georgiou DM, Ioannou P, Tsingis M, Zamba E, Middleton LT.
    Neurogenetics; 2001 Jul; 3(3):127-32. PubMed ID: 11523563
    [Abstract] [Full Text] [Related]

  • 8. Localization of DNA probes tightly linked to the Friedreich's ataxia locus by in situ hybridization in a case of pericentric inversion of chromosome 9.
    Raimondi E, Bernasconi P, Moralli D, Fujita R, Uziel G, Di Donato S, De Carli L, Pandolfo M.
    Hum Genet; 1991 Mar; 86(5):525-8. PubMed ID: 2016094
    [Abstract] [Full Text] [Related]

  • 9. Evidence for a common origin of most Friedreich ataxia chromosomes in the Spanish population.
    Monrós E, Cañizares J, Moltó MD, Rodius F, Montermini L, Cossée M, Martínez F, Prieto F, de Frutos R, Koenig M, Pandolfo M, Bertranpetit J, Palau F.
    Eur J Hum Genet; 1996 Mar; 4(4):191-8. PubMed ID: 8875184
    [Abstract] [Full Text] [Related]

  • 10. Identification of a hypervariable microsatellite polymorphism within D9S15 tightly linked to Friedrich's ataxia.
    Wallis J, Williamson R, Chamberlain S.
    Hum Genet; 1990 Jun; 85(1):98-100. PubMed ID: 2358306
    [Abstract] [Full Text] [Related]

  • 11. Identification of CpG islands in a physical map encompassing the Friedreich's ataxia locus.
    Wilkes D, Shaw J, Anand R, Riley J, Winter P, Wallis J, Driesel AG, Williamson R, Chamberlain S.
    Genomics; 1991 Jan; 9(1):90-5. PubMed ID: 2004770
    [Abstract] [Full Text] [Related]

  • 12. Study of large inbred Friedreich ataxia families reveals a recombination between D9S15 and the disease locus.
    Belal S, Panayides K, Sirugo G, Ben Hamida C, Ioannou P, Hentati F, Beckmann J, Koenig M, Mandel JL, Ben Hamida M.
    Am J Hum Genet; 1992 Dec; 51(6):1372-6. PubMed ID: 1463017
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  • 16. Attempts to identify the chromosomal localization of the Friedreich's ataxia locus.
    Chamberlain S, Worrall C, Williamson R.
    Adv Neurol; 1988 Dec; 48():257-60. PubMed ID: 2891256
    [No Abstract] [Full Text] [Related]

  • 17. Physical evidence for the position of the Friedreich's ataxia locus FRDA proximal to D9S5.
    Hillermann R, See CG, Pook M, Wilkes D, Carvajal J, Doudney K, Williamson R, Chamberlain S.
    Cytogenet Cell Genet; 1995 Dec; 71(3):214-6. PubMed ID: 7587379
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  • 19. Friedreich ataxia in Louisiana Acadians: demonstration of a founder effect by analysis of microsatellite-generated extended haplotypes.
    Sirugo G, Keats B, Fujita R, Duclos F, Purohit K, Koenig M, Mandel JL.
    Am J Hum Genet; 1992 Mar; 50(3):559-66. PubMed ID: 1347194
    [Abstract] [Full Text] [Related]

  • 20. Friedreich's ataxia. Revision of the phenotype according to molecular genetics.
    Schöls L, Amoiridis G, Przuntek H, Frank G, Epplen JT, Epplen C.
    Brain; 1997 Dec; 120 ( Pt 12)():2131-40. PubMed ID: 9448568
    [Abstract] [Full Text] [Related]

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