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Journal Abstract Search

222 related items for PubMed ID: 8557256

  • 1. 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]

  • 2. 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]

  • 3. 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]

  • 4. 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]

  • 5. 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; 6(4):421-6. PubMed ID: 10998431
    [Abstract] [Full Text] [Related]

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

  • 7. 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]

  • 8. 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]

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

  • 10. 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]

  • 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. 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 30; 1(2):495-501. PubMed ID: 9852256
    [Abstract] [Full Text] [Related]

  • 13. DNA deletion associated with hereditary neuropathy with liability to pressure palsies.
    Chance PF, Alderson MK, Leppig KA, Lensch MW, Matsunami N, Smith B, Swanson PD, Odelberg SJ, Disteche CM, Bird TD.
    Cell; 1993 Jan 15; 72(1):143-51. PubMed ID: 8422677
    [Abstract] [Full Text] [Related]

  • 14. Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies: a SacI polymorphism in the proximal CMT1A-REP elements may lead to genetic misdiagnosis.
    Fuchs C, Liehr T, Ozbey S, Ekici A, Grehl H, Rautenstrauss B.
    Neurogenetics; 1998 Dec 15; 2(1):43-6. PubMed ID: 9933299
    [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 15; 99(2):151-4. PubMed ID: 9048912
    [Abstract] [Full Text] [Related]

  • 16. 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 15; 5(6):745-53. PubMed ID: 8776588
    [Abstract] [Full Text] [Related]

  • 17. 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 15; 69(2):68-73. PubMed ID: 16570573
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP.
    Thiel CT, Kraus C, Rauch A, Ekici AB, Rautenstrauss B, Reis A.
    Eur J Hum Genet; 2003 Feb 01; 11(2):170-8. PubMed ID: 12634865
    [Abstract] [Full Text] [Related]

  • 20. 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 01; 11(6):1018-33. PubMed ID: 11381029
    [Abstract] [Full Text] [Related]

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