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Journal Abstract Search

533 related items for PubMed ID: 11381029

  • 1. 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]

  • 2. 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]

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

  • 4. 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]

  • 5. 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]

  • 6. Autosomal dominant Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies: detection of the recombination in Slovene patients and exclusion of the potentially recessive Thr118Met PMP22 point mutation.
    Leonardis L, Zidar J, Ekici A, Peterlin B, Rautenstrauss B.
    Int J Mol Med; 1998 Feb; 1(2):495-501. PubMed ID: 9852256
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. Molecular mechanisms for CMT1A duplication and HNPP deletion.
    Boerkoel CF, Inoue K, Reiter LT, Warner LE, Lupski JR.
    Ann N Y Acad Sci; 1999 Sep 14; 883():22-35. PubMed ID: 10586226
    [Abstract] [Full Text] [Related]

  • 9. Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP): reliable detection of the CMT1A duplication and HNPP deletion using 8 microsatellite markers in 2 multiplex PCRs.
    Seeman P, Mazanec R, Zidar J, Hrusáková S, Ctvrtecková M, Rautenstrauss B.
    Int J Mol Med; 2000 Oct 14; 6(4):421-6. PubMed ID: 10998431
    [Abstract] [Full Text] [Related]

  • 10. Genetic basis of inherited peripheral neuropathies.
    Suter U, Patel PI.
    Hum Mutat; 1994 Oct 14; 3(2):95-102. PubMed ID: 7515304
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. 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]

  • 13. 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]

  • 14. 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]

  • 15. 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]

  • 16. Analysis of PMP22 duplication and deletion using a panel of six dinucleotide tandem repeats.
    Gagic M, Markovic MK, Kecmanovic M, Keckarevic D, Mladenovic J, Dackovic J, Milic-Rasic V, Romac S.
    Clin Chem Lab Med; 2016 May 01; 54(5):773-80. PubMed ID: 26479344
    [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. Mutation analysis of PMP22 in Slovak patients with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.
    Resko P, Radvansky J, Odnogova Z, Baldovic M, Minarik G, Polakova H, Palffy R, Kadasi L.
    Gen Physiol Biophys; 2011 Dec 15; 30(4):379-88. PubMed ID: 22131320
    [Abstract] [Full Text] [Related]

  • 19. Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.
    Zhang F, Seeman P, Liu P, Weterman MA, Gonzaga-Jauregui C, Towne CF, Batish SD, De Vriendt E, De Jonghe P, Rautenstrauss B, Krause KH, Khajavi M, Posadka J, Vandenberghe A, Palau F, Van Maldergem L, Baas F, Timmerman V, Lupski JR.
    Am J Hum Genet; 2010 Jun 11; 86(6):892-903. PubMed ID: 20493460
    [Abstract] [Full Text] [Related]

  • 20. 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 11; 5(6):745-53. PubMed ID: 8776588
    [Abstract] [Full Text] [Related]

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