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Journal Abstract Search

157 related items for PubMed ID: 1971995

  • 1. Mapping autosomal recessive vitamin D dependency type I to chromosome 12q14 by linkage analysis.
    Labuda M, Morgan K, Glorieux FH.
    Am J Hum Genet; 1990 Jul; 47(1):28-36. PubMed ID: 1971995
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  • 3. 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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  • 4. Linkage of epidermolysis bullosa simplex to keratin gene loci.
    McKenna KE, Hughes AE, Bingham EA, Nevin NC.
    J Med Genet; 1992 Aug 01; 29(8):568-70. PubMed ID: 1381443
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  • 6. Carrier detection and early diagnosis of Wilson's disease by restriction fragment length polymorphism analysis.
    Figus A, Lampis R, Devoto M, Ristaldi MS, Ideo A, de Virgilis S, Nurchi AM, Corrias A, Corda R, Lai ME.
    J Med Genet; 1989 Feb 01; 26(2):78-82. PubMed ID: 2563776
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  • 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 01; 87(5):1796-800. PubMed ID: 1968638
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  • 10. The Friedreich ataxia gene is assigned to chromosome 9q13-q21 by mapping of tightly linked markers and shows linkage disequilibrium with D9S15.
    Hanauer A, Chery M, Fujita R, Driesel AJ, Gilgenkrantz S, Mandel JL.
    Am J Hum Genet; 1990 Jan 01; 46(1):133-7. PubMed ID: 2294745
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  • 11. Confirmation and refinement of the genetic localization of the Coffin-Lowry syndrome locus in Xp22.1-p22.2.
    Biancalana V, Briard ML, David A, Gilgenkrantz S, Kaplan J, Mathieu M, Piussan C, Poncin J, Schinzel A, Oudet C.
    Am J Hum Genet; 1992 May 01; 50(5):981-7. PubMed ID: 1349200
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  • 15. Population genetics of vitamin D-dependent rickets in northeastern Quebec.
    De Braekeleer M, Larochelle J.
    Ann Hum Genet; 1991 Oct 01; 55(4):283-90. PubMed ID: 1687883
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  • 18. Fine mapping of the chromosome 11q22-23 region using PFGE, linkage and haplotype analysis; localization of the gene for ataxia telangiectasia to a 5cM region flanked by NCAM/DRD2 and STMY/CJ52.75, phi 2.22.
    McConville CM, Formstone CJ, Hernandez D, Thick J, Taylor AM.
    Nucleic Acids Res; 1990 Aug 11; 18(15):4335-43. PubMed ID: 1975092
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  • 19. Mapping of epidermolysis bullosa simplex mutation to chromosome 12.
    Ryynänen M, Knowlton RG, Uitto J.
    Am J Hum Genet; 1991 Nov 11; 49(5):978-84. PubMed ID: 1718160
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  • 20. Anderson-Fabry disease--family linkage studies using two polymorphic X-linked DNA probes.
    Morgan SH, Cheshire JK, Wilson TM, MacDermot K, Crawfurd MA.
    Pediatr Nephrol; 1987 Jul 11; 1(3):536-9. PubMed ID: 2908672
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