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Journal Abstract Search

303 related items for PubMed ID: 1303282

  • 1. 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]

  • 2. 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]

  • 3. 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 Nov 15; 9(6):563-6. PubMed ID: 9195231
    [Abstract] [Full Text] [Related]

  • 4. 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 15; 8(3):229-35. PubMed ID: 10780790
    [Abstract] [Full Text] [Related]

  • 5. Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A.
    Matsunami N, Smith B, Ballard L, Lensch MW, Robertson M, Albertsen H, Hanemann CO, Müller HW, Bird TD, White R.
    Nat Genet; 1992 Jun 15; 1(3):176-9. PubMed ID: 1303231
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A.
    Valentijn LJ, Bolhuis PA, Zorn I, Hoogendijk JE, van den Bosch N, Hensels GW, Stanton VP, Housman DE, Fischbeck KH, Ross DA.
    Nat Genet; 1992 Jun 01; 1(3):166-70. PubMed ID: 1303229
    [Abstract] [Full Text] [Related]

  • 8. 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 01; 58(6):1223-30. PubMed ID: 8651299
    [Abstract] [Full Text] [Related]

  • 9. 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 01; 4(2):117-22. PubMed ID: 10442687
    [Abstract] [Full Text] [Related]

  • 10. Charcot-Marie-Tooth disease type 1A: molecular mechanisms of gene dosage and point mutation underlying a common inherited peripheral neuropathy.
    Roa BB, Garcia CA, Lupski JR.
    Int J Neurol; 1999 Jun 01; 25-26():97-107. PubMed ID: 11980069
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A.
    Patel PI, Roa BB, Welcher AA, Schoener-Scott R, Trask BJ, Pentao L, Snipes GJ, Garcia CA, Francke U, Shooter EM, Lupski JR, Suter U.
    Nat Genet; 1992 Jun 01; 1(3):159-65. PubMed ID: 1303228
    [Abstract] [Full Text] [Related]

  • 13. The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication.
    Timmerman V, Nelis E, Van Hul W, Nieuwenhuijsen BW, Chen KL, Wang S, Ben Othman K, Cullen B, Leach RJ, Hanemann CO.
    Nat Genet; 1992 Jun 01; 1(3):171-5. PubMed ID: 1303230
    [Abstract] [Full Text] [Related]

  • 14. Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A.
    Lupski JR, Wise CA, Kuwano A, Pentao L, Parke JT, Glaze DG, Ledbetter DH, Greenberg F, Patel PI.
    Nat Genet; 1992 Apr 01; 1(1):29-33. PubMed ID: 1301995
    [Abstract] [Full Text] [Related]

  • 15. Charcot-Marie-Tooth neuropathy type 1A mutation: apparent crossovers with D17S122 are due to a duplication.
    Nicholson GA, Kennerson ML, Keats BJ, Mesterovic N, Churcher W, Barker D, Ross DA.
    Am J Med Genet; 1992 Nov 01; 44(4):455-60. PubMed ID: 1442887
    [Abstract] [Full Text] [Related]

  • 16. 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 01; 12(3):288-97. PubMed ID: 8589720
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. Charcot-Marie-Tooth disease type 1A: a family study with microsatellites.
    Qu Y, Carpenter NJ, Whetsell L, Smith SP, Say B.
    J Okla State Med Assoc; 1996 Nov 15; 89(11):395-9. PubMed ID: 8972170
    [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 15; 4(12):2327-34. PubMed ID: 8634706
    [Abstract] [Full Text] [Related]

  • 20. 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 Dec 15; 11(2):109-13. PubMed ID: 9482573
    [Abstract] [Full Text] [Related]

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