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322 related items for PubMed ID: 8651299

  • 21. 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]

  • 22. [Locations of crossover breakpoints within the CMT 1 A-REP repeat in patients with hereditary neuropathy with liability to pressure palsy--detection by recombinant chromosome-specific polymerase chain reaction].
    Yamamoto M, Yasuda T, Mitsuma T, Obara K, Tachi N, Sobue G.
    No To Shinkei; 1997 May; 49(5):443-7. PubMed ID: 9163757
    [Abstract] [Full Text] [Related]

  • 23. 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 May; 9(6):563-6. PubMed ID: 9195231
    [Abstract] [Full Text] [Related]

  • 24. 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]

  • 25. 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]

  • 26. 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]

  • 27. 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; 6(9):1595-603. PubMed ID: 9285799
    [Abstract] [Full Text] [Related]

  • 28. A 1.5-Mb cosmid contig of the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12.
    Murakami T, Lupski JR.
    Genomics; 1996 May 15; 34(1):128-33. PubMed ID: 8661034
    [Abstract] [Full Text] [Related]

  • 29. 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]

  • 30. Molecular evolution of the CMT1A-REP region: a human- and chimpanzee-specific repeat.
    Keller MP, Seifried BA, Chance PF.
    Mol Biol Evol; 1999 Aug 01; 16(8):1019-26. PubMed ID: 10474898
    [Abstract] [Full Text] [Related]

  • 31. 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 01; 98(1):22-8. PubMed ID: 8682501
    [Abstract] [Full Text] [Related]

  • 32. Genetic evaluation of inherited motor/sensory neuropathy.
    Chance PF.
    Suppl Clin Neurophysiol; 2004 Jul 01; 57():228-42. PubMed ID: 16106622
    [Abstract] [Full Text] [Related]

  • 33.
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    [No Abstract] [Full Text] [Related]

  • 34. Unequal exchange at the Charcot-Marie-Tooth disease type 1A recombination hot-spot is not elevated above the genome average rate.
    Han LL, Keller MP, Navidi W, Chance PF, Arnheim N.
    Hum Mol Genet; 2000 Jul 22; 9(12):1881-9. PubMed ID: 10915777
    [Abstract] [Full Text] [Related]

  • 35. The Charcot-Marie-Tooth binary repeat contains a gene transcribed from the opposite strand of a partially duplicated region of the COX10 gene.
    Kennerson ML, Nassif NT, Dawkins JL, DeKroon RM, Yang JG, Nicholson GA.
    Genomics; 1997 Nov 15; 46(1):61-9. PubMed ID: 9403059
    [Abstract] [Full Text] [Related]

  • 36. 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]

  • 37. [Analysis of mutations in the chromosome 17p11.2 region in patients with Charcot-Marie-Tooth type 1 disease and in patients with tomaculous neuropathy].
    Zamurović N, Milić V, Dacković J, Zamurović D, Culjković B, Parlović S, Apostolski S, Romac S.
    Srp Arh Celok Lek; 2002 Feb 28; 130(3-4):59-63. PubMed ID: 12154515
    [Abstract] [Full Text] [Related]

  • 38. PCR-based strategy for the diagnosis of hereditary neuropathy with liability to pressure palsies and Charcot-Marie-Tooth disease type 1A.
    Young P, Stögbauer F, Wiebusch H, Löfgren A, Timmerman V, Van Broeckhoven C, Ringelstein EB, Assmann G, Funke H.
    Neurology; 1998 Mar 28; 50(3):760-3. PubMed ID: 9521270
    [Abstract] [Full Text] [Related]

  • 39. 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 Mar 28; 11(2):109-13. PubMed ID: 9482573
    [Abstract] [Full Text] [Related]

  • 40. Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene.
    Murakami T, Reiter LT, Lupski JR.
    Genomics; 1997 May 15; 42(1):161-4. PubMed ID: 9177788
    [Abstract] [Full Text] [Related]

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