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Journal Abstract Search

224 related items for PubMed ID: 9545397

  • 1. Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients.
    Reiter LT, Hastings PJ, Nelis E, De Jonghe P, Van Broeckhoven C, Lupski JR.
    Am J Hum Genet; 1998 May; 62(5):1023-33. PubMed ID: 9545397
    [Abstract] [Full Text] [Related]

  • 2. A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.
    Reiter LT, Murakami T, Koeuth T, Pentao L, Muzny DM, Gibbs RA, Lupski JR.
    Nat Genet; 1996 Mar; 12(3):288-97. PubMed ID: 8589720
    [Abstract] [Full Text] [Related]

  • 3. Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: new tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A. French CMT Collaborative Research Group.
    Lopes J, LeGuern E, Gouider R, Tardieu S, Abbas N, Birouk N, Gugenheim M, Bouche P, Agid Y, Brice A.
    Am J Hum Genet; 1996 Jun; 58(6):1223-30. PubMed ID: 8651299
    [Abstract] [Full Text] [Related]

  • 4. Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspot.
    Kiyosawa H, Chance PF.
    Hum Mol Genet; 1996 Jun; 5(6):745-53. PubMed ID: 8776588
    [Abstract] [Full Text] [Related]

  • 5. Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent.
    Timmerman V, Rautenstrauss B, Reiter LT, Koeuth T, Löfgren A, Liehr T, Nelis E, Bathke KD, De Jonghe P, Grehl H, Martin JJ, Lupski JR, Van Broeckhoven C.
    J Med Genet; 1997 Jan; 34(1):43-9. PubMed ID: 9032649
    [Abstract] [Full Text] [Related]

  • 6. Charcot-Marie-Tooth disease and related inherited neuropathies.
    Murakami T, Garcia CA, Reiter LT, Lupski JR.
    Medicine (Baltimore); 1996 Sep; 75(5):233-50. PubMed ID: 8862346
    [Abstract] [Full Text] [Related]

  • 7. Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination.
    Lopes J, Ravisé N, Vandenberghe A, Palau F, Ionasescu V, Mayer M, Lévy N, Wood N, Tachi N, Bouche P, Latour P, Ruberg M, Brice A, LeGuern E.
    Hum Mol Genet; 1998 Jan; 7(1):141-8. PubMed ID: 9384615
    [Abstract] [Full Text] [Related]

  • 8. Novel PCR-based diagnostic tools for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsies.
    Stronach EA, Clark C, Bell C, Löfgren A, McKay NG, Timmerman V, Van Broeckhoven C, Haites NE.
    J Peripher Nerv Syst; 1999 Jan; 4(2):117-22. PubMed ID: 10442687
    [Abstract] [Full Text] [Related]

  • 9. Molecular diagnosis of Charcot-Marie-Tooth 1A disease and hereditary neuropathy with liability to pressure palsies by quantifying CMT1A-REP sequences: consequences of recombinations at variant sites on chromosomes 17p11.2-12.
    Vandenberghe A, Latour P, Chauplannaz G, Chapon F, Pouget J, Dumas R, Laguenay A, Ollagnon E, Bost M, Duthel S, Chazot G, Boucherat M.
    Clin Chem; 1996 Jul; 42(7):1021-5. PubMed ID: 8674184
    [Abstract] [Full Text] [Related]

  • 10. The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes.
    Inoue K, Dewar K, Katsanis N, Reiter LT, Lander ES, Devon KL, Wyman DW, Lupski JR, Birren B.
    Genome Res; 2001 Jun; 11(6):1018-33. PubMed ID: 11381029
    [Abstract] [Full Text] [Related]

  • 11. Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP).
    Timmerman V, Löfgren A, Le Guern E, Liang P, De Jonghe P, Martin JJ, Verhalle D, Robberecht W, Gouider R, Brice A, Van Broeckhoven C.
    Hum Genet; 1996 Jan; 97(1):26-34. PubMed ID: 8557256
    [Abstract] [Full Text] [Related]

  • 12. A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies.
    Lorenzetti D, Pareyson D, Sghirlanzoni A, Roa BB, Abbas NE, Pandolfo M, Di Donato S, Lupski JR.
    Am J Hum Genet; 1995 Jan; 56(1):91-8. PubMed ID: 7825607
    [Abstract] [Full Text] [Related]

  • 13. Isolation of novel genes from the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12.
    Murakami T, Sun ZS, Lee CC, Lupski JR.
    Genomics; 1997 Jan 01; 39(1):99-103. PubMed ID: 9027492
    [Abstract] [Full Text] [Related]

  • 14. Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17.
    Chance PF, Abbas N, Lensch MW, Pentao L, Roa BB, Patel PI, Lupski JR.
    Hum Mol Genet; 1994 Feb 01; 3(2):223-8. PubMed ID: 8004087
    [Abstract] [Full Text] [Related]

  • 15. Locations of crossover breakpoints within the CMT1A-REP repeat in Japanese patients with CMT1A and HNPP.
    Yamamoto M, Yasuda T, Hayasaka K, Ohnishi A, Yoshikawa H, Yanagihara T, Ikegami T, Yamamoto T, Ohashi H, Nishimura T, Mitsuma T, Kiyosawa H, Chance PF, Sobue G.
    Hum Genet; 1997 Feb 01; 99(2):151-4. PubMed ID: 9048912
    [Abstract] [Full Text] [Related]

  • 16. Homologous DNA exchanges in humans can be explained by the yeast double-strand break repair model: a study of 17p11.2 rearrangements associated with CMT1A and HNPP.
    Lopes J, Tardieu S, Silander K, Blair I, Vandenberghe A, Palau F, Ruberg M, Brice A, LeGuern E.
    Hum Mol Genet; 1999 Nov 01; 8(12):2285-92. PubMed ID: 10545609
    [Abstract] [Full Text] [Related]

  • 17. The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs.
    Reiter LT, Murakami T, Koeuth T, Gibbs RA, Lupski JR.
    Hum Mol Genet; 1997 Sep 01; 6(9):1595-603. PubMed ID: 9285799
    [Abstract] [Full Text] [Related]

  • 18. Rapid diagnosis of CMT1A duplications and HNPP deletions by multiplex microsatellite PCR.
    Choi BO, Kim J, Lee KL, Yu JS, Hwang JH, Chung KW.
    Mol Cells; 2007 Feb 28; 23(1):39-48. PubMed ID: 17464210
    [Abstract] [Full Text] [Related]

  • 19. Analysis of the CMT1A-REP repeat: mapping crossover breakpoints in CMT1A and HNPP.
    Kiyosawa H, Lensch MW, Chance PF.
    Hum Mol Genet; 1995 Dec 28; 4(12):2327-34. PubMed ID: 8634706
    [Abstract] [Full Text] [Related]

  • 20. Allele-specific all-or-none PCR product diagnostic strategy for Charcot-Marie-Tooth 1A and hereditary neuropathy with liability to pressure palsies.
    Lin KP, Chou CH, Lee HY, Soong BW.
    J Chin Med Assoc; 2006 Feb 28; 69(2):68-73. PubMed ID: 16570573
    [Abstract] [Full Text] [Related]

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