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Journal Abstract Search

137 related items for PubMed ID: 9163757

  • 1. [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]

  • 2. 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 May; 4(2):117-22. PubMed ID: 10442687
    [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. [Hereditary neuropathy with liability to pressure palsies: study of six Spanish families].
    Pou Serradell A, Monells J, Téllez MJ, Fossas P, Löfgren A, Meuleman J, Timmerman V, De Jonghe P, Ceuterick C, Martin JJ.
    Rev Neurol (Paris); 2002 May; 158(5 Pt 1):579-88. PubMed ID: 12072826
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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]

  • 7. Overview of hereditary neuropathy with liability to pressure palsies.
    Chance PF.
    Ann N Y Acad Sci; 1999 Sep 14; 883():14-21. PubMed ID: 10586225
    [Abstract] [Full Text] [Related]

  • 8. 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 14; 5(6):745-53. PubMed ID: 8776588
    [Abstract] [Full Text] [Related]

  • 9. 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 14; 30(4):379-88. PubMed ID: 22131320
    [Abstract] [Full Text] [Related]

  • 10. Application of multiplex ligation-dependent probe analysis to define a small deletion encompassing PMP22 exons 4 and 5 in hereditary neuropathy with liability to pressure palsies.
    Sutton IJ, Mocroft AP, Lindley VH, Barber RM, Bryon RJ, Winer JB, MacDonald F.
    Neuromuscul Disord; 2004 Dec 14; 14(12):804-9. PubMed ID: 15564036
    [Abstract] [Full Text] [Related]

  • 11. Analysis of 17p11.2 chromosome region rearrangements in CMT1 patients from Ukraine.
    Hryshchenko NV, Livshits LA.
    Tsitol Genet; 2009 Dec 14; 43(1):36-41. PubMed ID: 19663313
    [Abstract] [Full Text] [Related]

  • 12. 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 14; 56(1):91-8. PubMed ID: 7825607
    [Abstract] [Full Text] [Related]

  • 13. Polymorphisms in the PMP-22 gene region (17p11.2-12) are crucial for simplified diagnosis of duplications/deletions.
    Haupt A, Schöls L, Przuntek H, Epplen JT.
    Hum Genet; 1997 May 14; 99(5):688-91. PubMed ID: 9150743
    [Abstract] [Full Text] [Related]

  • 14. 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 14; 1(2):495-501. PubMed ID: 9852256
    [Abstract] [Full Text] [Related]

  • 15. 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 14; 12(3):288-97. PubMed ID: 8589720
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. [Detection of duplications or deletions of the PMP22 gene using real-time quantitative PCR].
    Zhang FF, Tang BS, Shen Y, Zhao GH, Xia K, Zhao YQ, Chen B, Zhang C, Pan Q, Cai F, Liu XM, Luo W, Zhang RX, Guo P.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Oct 30; 22(5):537-40. PubMed ID: 16215943
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. The prevalence of hereditary neuropathy with liability to pressure palsies in patients with multiple surgically treated entrapment neuropathies.
    Sander MD, Abbasi D, Ferguson AL, Steyers CM, Wang K, Morcuende JA.
    J Hand Surg Am; 2005 Nov 15; 30(6):1236-41. PubMed ID: 16344182
    [Abstract] [Full Text] [Related]

  • 20. 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]

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