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Journal Abstract Search

123 related items for PubMed ID: 8530008

  • 1.
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  • 2. Large linkage analysis in 100 families with autosomal recessive spinal muscular atrophy (SMA) and 11 CEPH families using 15 polymorphic loci in the region 5q11.2-q13.3.
    Wirth B, Pick E, Leutner A, Dadze A, Voosen B, Knapp M, Piechaczek-Wappenschmidt B, Rudnik-Schöneborn S, Schönling J, Cox S.
    Genomics; 1994 Mar 01; 20(1):84-93. PubMed ID: 7912691
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  • 3. Mapping of the spinal muscular atrophy (SMA) gene to a 750-kb interval flanked by two new microsatellites.
    Wirth B, el-Agwany A, Baasner A, Burghes A, Koch A, Dadze A, Piechaczeck-Wappenschmidt B, Rudnik-Schöneborn S, Zerres K, Schönling J.
    Eur J Hum Genet; 1995 Mar 01; 3(1):56-60. PubMed ID: 7767657
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  • 6. A YAC contig of the region containing the spinal muscular atrophy gene (SMA): identification of an unstable region.
    Carpten JD, DiDonato CJ, Ingraham SE, Wagner-McPherson C, Nieuwenhuijsen BW, Wasmuth JJ, Burghes AH.
    Genomics; 1994 Nov 15; 24(2):351-6. PubMed ID: 7698758
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  • 7. A recombination event occurring within two complex 5q13.1 microsatellite repeat polymorphisms suggests a telomeric mapping of spinal muscular atrophy.
    Yaraghi Z, McLean MD, Roy N, Surh L, Ikeda JE, Korneluk RG, MacKenzie A.
    Hum Genet; 1995 Sep 15; 96(3):330-4. PubMed ID: 7649551
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  • 9. Genetic linkage analysis of Canadian spinal muscular atrophy kindreds using flanking microsatellite 5q13 polymorphisms.
    MacKenzie A, Roy N, Besner A, Mettler G, Jacob P, Korneluk R, Surh L.
    Hum Genet; 1993 Jan 15; 90(5):501-4. PubMed ID: 8094064
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  • 10. Refinement of the spinal muscular atrophy locus to the interval between D5S435 and MAP1B.
    Soares VM, Brzustowicz LM, Kleyn PW, Knowles JA, Palmer DA, Asokan S, Penchaszadeh GK, Munsat TL, Gilliam TC.
    Genomics; 1993 Feb 15; 15(2):365-71. PubMed ID: 8449502
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  • 11. Refined physical map of the spinal muscular atrophy gene (SMA) region at 5q13 based on YAC and cosmid contiguous arrays.
    Roy N, McLean MD, Besner-Johnston A, Lefebvre C, Salih M, Carpten JD, Burghes AH, Yaraghi Z, Ikeda JE, Korneluk RG.
    Genomics; 1995 Apr 10; 26(3):451-60. PubMed ID: 7607667
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  • 13. Identification of key recombinants in multiplex SMA families.
    van der Steege G, Cobben JM, Brahe C, Osinga J, Zappata S, Scheffer H, Neri G, van Ommen GJ, ten Kate LP, Buys CH.
    Genomics; 1994 Jul 01; 22(1):219-22. PubMed ID: 7959774
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  • 14. Fine-mapping of the spinal muscular atrophy locus to a region flanked by MAP1B and D5S6.
    Brzustowicz LM, Kleyn PW, Boyce FM, Lien LL, Monaco AP, Penchaszadeh GK, Das K, Wang CH, Munsat TL, Ott J.
    Genomics; 1992 Aug 01; 13(4):991-8. PubMed ID: 1505990
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  • 15. Allele distribution of D5S125, MAP1B5' and D5S679 microsatellite markers in Turkish spinal muscular atrophy families.
    Erdem H, Pehlivan S, Topaloğlu H, Togan I, Ozgüç M.
    Turk J Pediatr; 1997 Aug 01; 39(4):447-52. PubMed ID: 9433145
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  • 16. A tool for the molecular analysis of an early lethal disease: slide-PCR in spinal muscular atrophy patients.
    Capon F, Melchionda S, Gennarelli M, Lo Cicero S, Giacanelli M, Novelli G, Dallapiccola B.
    Mol Cell Probes; 1993 Jun 01; 7(3):221-6. PubMed ID: 8366867
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  • 19. Two 5q13 simple tandem repeat loci are in linkage disequilibrium with type 1 spinal muscular atrophy.
    McLean MD, Roy N, MacKenzie AE, Salih M, Burghes AH, Simard L, Korneluk RG, Ikeda JE, Surh L.
    Hum Mol Genet; 1994 Nov 01; 3(11):1951-6. PubMed ID: 7874111
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  • 20. High-resolution genetic map around the spinal muscular atrophy (SMA) locus on chromosome 5.
    Morrison KE, Daniels RJ, Suthers GK, Flynn GA, Francis MJ, Buckle VJ, Davies KE.
    Am J Hum Genet; 1992 Mar 01; 50(3):520-7. PubMed ID: 1539593
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