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142 related items for PubMed ID: 7485155

  • 1. The Friedreich ataxia critical region spans a 150-kb interval on chromosome 9q13.
    Montermini L, Rodius F, Pianese L, Moltò MD, Cossée M, Campuzano V, Cavalcanti F, Monticelli A, Palau F, Gyapay G.
    Am J Hum Genet; 1995 Nov; 57(5):1061-7. PubMed ID: 7485155
    [Abstract] [Full Text] [Related]

  • 2. Recombinations in individuals homozygous by descent localize the Friedreich ataxia locus in a cloned 450-kb interval.
    Rodius F, Duclos F, Wrogemann K, Le Paslier D, Ougen P, Billault A, Belal S, Musenger C, Brice A, Dürr A.
    Am J Hum Genet; 1994 Jun; 54(6):1050-9. PubMed ID: 8198128
    [Abstract] [Full Text] [Related]

  • 3. Isolation of a new gene in the Friedreich ataxia candidate region on human chromosome 9 by cDNA direct selection.
    Pandolfo M, Pizzuti A, Redolfi E, Munaro M, Di Donato S, Cavalcanti F, Filla A, Monticelli A, Pianese L, Cocozza S.
    Biochem Med Metab Biol; 1994 Aug; 52(2):115-9. PubMed ID: 7993657
    [Abstract] [Full Text] [Related]

  • 4. Friedreich's ataxia: a defect in signal transduction?
    Carvajal JJ, Pook MA, Doudney K, Hillermann R, Wilkes D, al-Mahdawi S, Williamson R, Chamberlain S.
    Hum Mol Genet; 1995 Aug; 4(8):1411-9. PubMed ID: 7581382
    [Abstract] [Full Text] [Related]

  • 5. 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 Aug; 2(4):291-9. PubMed ID: 7704559
    [Abstract] [Full Text] [Related]

  • 6. A 530kb YAC contig tightly linked to the Friedreich ataxia locus contains five CpG clusters and a new highly polymorphic microsatellite.
    Fujita R, Sirugo G, Duclos F, Abderrahim H, Le Paslier D, Cohen D, Brownstein BH, Schlessinger D, Mandel JL, Koenig M.
    Hum Genet; 1992 Jul; 89(5):531-8. PubMed ID: 1353054
    [Abstract] [Full Text] [Related]

  • 7. Additional polymorphisms at marker loci D9S5 and D9S15 generate extended haplotypes in linkage disequilibrium with Friedreich ataxia.
    Fujita R, Hanauer A, Sirugo G, Heilig R, Mandel JL.
    Proc Natl Acad Sci U S A; 1990 Mar; 87(5):1796-800. PubMed ID: 1968638
    [Abstract] [Full Text] [Related]

  • 8. 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 Mar; 71(3):214-6. PubMed ID: 7587379
    [Abstract] [Full Text] [Related]

  • 9. Gene in the region of the Friedreich ataxia locus encodes a putative transmembrane protein expressed in the nervous system.
    Duclos F, Boschert U, Sirugo G, Mandel JL, Hen R, Koenig M.
    Proc Natl Acad Sci U S A; 1993 Jan 01; 90(1):109-13. PubMed ID: 7678331
    [Abstract] [Full Text] [Related]

  • 10. A family segregating a Friedreich ataxia phenotype that is not linked to the FRDA locus.
    Smeyers P, Monrós E, Vílchez J, Lopez-Arlandis J, Prieto F, Palau F.
    Hum Genet; 1996 Jun 01; 97(6):824-8. PubMed ID: 8641704
    [Abstract] [Full Text] [Related]

  • 11. The Friedreich ataxia region: characterization of two novel genes and reduction of the critical region to 300 kb.
    Duclos F, Rodius F, Wrogemann K, Mandel JL, Koenig M.
    Hum Mol Genet; 1994 Jun 01; 3(6):909-14. PubMed ID: 7951235
    [Abstract] [Full Text] [Related]

  • 12. Regional localisation of the Friedreich ataxia locus to human chromosome 9q13----q21.1.
    Shaw J, Lichter P, Driesel AJ, Williamson R, Chamberlain S.
    Cytogenet Cell Genet; 1990 Jun 01; 53(4):221-4. PubMed ID: 2209091
    [Abstract] [Full Text] [Related]

  • 13. 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 01; 51(6):1372-6. PubMed ID: 1463017
    [Abstract] [Full Text] [Related]

  • 14. 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 Dec 01; 4(4):191-8. PubMed ID: 8875184
    [Abstract] [Full Text] [Related]

  • 15. 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 Dec 01; 48(5-6):219-24. PubMed ID: 7999982
    [Abstract] [Full Text] [Related]

  • 16. Locus heterogeneity in Friedreich ataxia.
    Kostrzewa M, Klockgether T, Damian MS, Müller U.
    Neurogenetics; 1997 May 01; 1(1):43-7. PubMed ID: 10735274
    [Abstract] [Full Text] [Related]

  • 17. Mutation of the start codon in the FRDA1 gene: linkage analysis of three pedigrees with the ATG to ATT transversion points to a unique common ancestor.
    Zühlke C, Laccone F, Cossée M, Kohlschütter A, Koenig M, Schwinger E.
    Hum Genet; 1998 Jul 01; 103(1):102-5. PubMed ID: 9737785
    [Abstract] [Full Text] [Related]

  • 18. Physical mapping of two loci (D9S5 and D9S15) tightly linked to Friedreich ataxia locus (FRDA) and identification of nearby CpG islands by pulse-field gel electrophoresis.
    Fujita R, Hanauer A, Vincent A, Mandel JL, Koenig M.
    Genomics; 1991 Aug 01; 10(4):915-20. PubMed ID: 1916823
    [Abstract] [Full Text] [Related]

  • 19. Friedreich ataxia in Acadian families from eastern Canada: clinical diversity with conserved haplotypes.
    Richter A, Poirier J, Mercier J, Julien D, Morgan K, Roy M, Gosselin F, Bouchard JP, Melançon SB.
    Am J Med Genet; 1996 Sep 06; 64(4):594-601. PubMed ID: 8870928
    [Abstract] [Full Text] [Related]

  • 20. Allele frequencies of DNA markers genetically linked to Friedreich ataxia in the German population.
    Zühlke C, Thies U.
    Hum Hered; 1993 Sep 06; 43(2):78-81. PubMed ID: 8103037
    [Abstract] [Full Text] [Related]

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