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Journal Abstract Search

132 related items for PubMed ID: 9474023

  • 1. Rapid detection of a recombinant hotspot associated with Charcot-Marie-Tooth disease type IA duplication by a PCR-based DNA test.
    Chang JG, Jong YJ, Wang WP, Wang JC, Hu CJ, Lo MC, Chang CP.
    Clin Chem; 1998 Feb; 44(2):270-4. PubMed ID: 9474023
    [Abstract] [Full Text] [Related]

  • 2. Clustering of CMT1A duplication breakpoints in a 700 bp interval of the CMT1A-REP repeat.
    Yamamoto M, Keller MP, Yasuda T, Hayasaka K, Ohnishi A, Yoshikawa H, Yanagihara T, Mitsuma T, Chance PF, Sobue G.
    Hum Mutat; 1998 Feb; 11(2):109-13. PubMed ID: 9482573
    [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. 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 Jun; 4(2):117-22. PubMed ID: 10442687
    [Abstract] [Full Text] [Related]

  • 5. Recombination breakpoints in the Charcot-Marie-Tooth 1A repeat sequence in Norwegian families.
    Aarskog NK, Vedeler CA.
    Acta Neurol Scand; 2001 Aug; 104(2):97-100. PubMed ID: 11493226
    [Abstract] [Full Text] [Related]

  • 6. Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit.
    Pentao L, Wise CA, Chinault AC, Patel PI, Lupski JR.
    Nat Genet; 1992 Dec; 2(4):292-300. PubMed ID: 1303282
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. Prenatal detection of a 17p11.2 duplication resulting from a rare recombination event and novel PCR-based strategy for molecular identification of Charcot-Marie-Tooth disease type 1A.
    Bernard R, Labelle V, Negre P, Tardieu S, Azulay JP, Malzac P, Mattéi JF, Leguern E, Philip N, Lévy N.
    Eur J Hum Genet; 2000 Mar; 8(3):229-35. PubMed ID: 10780790
    [Abstract] [Full Text] [Related]

  • 9. Charcot-Marie-Tooth disease type 1A duplication by PCR analysis.
    Tachi N, Kozuka N, Ohya K, Chiba S.
    Pediatr Neurol; 1999 May; 20(5):360-3. PubMed ID: 10371381
    [Abstract] [Full Text] [Related]

  • 10. Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion.
    Liehr T, Rautenstrauss B, Grehl H, Bathke KD, Ekici A, Rauch A, Rott HD.
    Hum Genet; 1996 Jul; 98(1):22-8. PubMed ID: 8682501
    [Abstract] [Full Text] [Related]

  • 11. 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; 99(2):151-4. PubMed ID: 9048912
    [Abstract] [Full Text] [Related]

  • 12. 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; 3(2):223-8. PubMed ID: 8004087
    [Abstract] [Full Text] [Related]

  • 13. Effectiveness of real-time quantitative PCR compare to repeat PCR for the diagnosis of Charcot-Marie-Tooth Type 1A and hereditary neuropathy with liability to pressure palsies.
    Choi JR, Lee WH, Sunwoo IN, Lee EK, Lee CH, Lim JB.
    Yonsei Med J; 2005 Jun 30; 46(3):347-52. PubMed ID: 15988805
    [Abstract] [Full Text] [Related]

  • 14. 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 30; 7(1):141-8. PubMed ID: 9384615
    [Abstract] [Full Text] [Related]

  • 15. [Heterogeneity in breakpoint location of duplication in Japanese Charcot-Marie-Tooth disease type 1A].
    Yamamoto M, Yasuda T, Yamamoto K, Mitsuma T, Sobue G.
    Rinsho Shinkeigaku; 1997 Jan 30; 37(1):50-3. PubMed ID: 9146075
    [Abstract] [Full Text] [Related]

  • 16. Facilitated diagnosis of CMT1A duplication in chromosome 17p11.2-12: analysis with a CMT1A-REP repeat probe and photostimulated luminescence imaging.
    Ikegami T, Ikeda H, Chance PF, Kiyosawa H, Yamamoto M, Sobue G, Ohnishi A, Tachi N, Hayasaka K.
    Hum Mutat; 1997 Jan 30; 9(6):563-6. PubMed ID: 9195231
    [Abstract] [Full Text] [Related]

  • 17. 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 30; 62(5):1023-33. PubMed ID: 9545397
    [Abstract] [Full Text] [Related]

  • 18. 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 30; 42(7):1021-5. PubMed ID: 8674184
    [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 30; 4(12):2327-34. PubMed ID: 8634706
    [Abstract] [Full Text] [Related]

  • 20. Charcot-Marie-Tooth disease and related inherited neuropathies.
    Murakami T, Garcia CA, Reiter LT, Lupski JR.
    Medicine (Baltimore); 1996 Sep 30; 75(5):233-50. PubMed ID: 8862346
    [Abstract] [Full Text] [Related]

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