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Journal Abstract Search

172 related items for PubMed ID: 8500795

  • 1. Charcot-Marie-tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2-->12.
    Upadhyaya M, Roberts SH, Farnham J, MacMillan JC, Clarke A, Heath JP, Hodges IC, Harper PS.
    Hum Genet; 1993 May; 91(4):392-4. PubMed ID: 8500795
    [Abstract] [Full Text] [Related]

  • 2. Charcot-Marie-Tooth disease type 1A: the parental origin of a de novo 17p11.2-p12 duplication.
    Hertz JM, Børglum AD, Brandt CA, Flint T, Bisgaard C.
    Clin Genet; 1994 Oct; 46(4):291-4. PubMed ID: 7834893
    [Abstract] [Full Text] [Related]

  • 3. The duplication in Charcot-Marie-Tooth disease type 1a spans at least 1100 kb on chromosome 17p11.2.
    Hoogendijk JE, Hensels GW, Zorn I, Valentijn L, Janssen EA, de Visser M, Barker DF, Ongerboer de Visser BW, Baas F, Bolhuis PA.
    Hum Genet; 1991 Dec; 88(2):215-8. PubMed ID: 1721895
    [Abstract] [Full Text] [Related]

  • 4. Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.
    Wise CA, Garcia CA, Davis SN, Heju Z, Pentao L, Patel PI, Lupski JR.
    Am J Hum Genet; 1993 Oct; 53(4):853-63. PubMed ID: 8105684
    [Abstract] [Full Text] [Related]

  • 5. Comparison of different techniques for detecting 17p12 duplication in CMT1A.
    Patitucci A, Muglia M, Magariello A, Gabriele AL, Peluso G, Sprovieri T, Conforti FL, Mazzei R, Ungaro C, Condino F, Valentino P, Bono F, Rodolico C, Mazzeo A, Toscano A, Vita G, Quattrone A.
    Neuromuscul Disord; 2005 Jul; 15(7):488-92. PubMed ID: 15941660
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. 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; 98(1):22-8. PubMed ID: 8682501
    [Abstract] [Full Text] [Related]

  • 8. Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A by multicolor in situ hybridization.
    Lebo RV, Martelli L, Su Y, Li L, Lynch E, Mansfield E, Pua KH, Watson DF, Chueh J, Hurko O.
    Am J Med Genet; 1993 Sep 01; 47(3):441-50. PubMed ID: 8135298
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. Is the duplication present in all family members affected with Charcot-Marie-Tooth neuropathy type 1 A?
    Ionăşescu V, Ionăşescu G, Searby C, Barker DF.
    Rom J Neurol Psychiatry; 1993 Jun 01; 31(3-4):179-87. PubMed ID: 8011481
    [Abstract] [Full Text] [Related]

  • 11. 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 Jun 01; 9(6):563-6. PubMed ID: 9195231
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: evidence for gene dosage as a mechanism in CMT1A.
    Chance PF, Bird TD, Matsunami N, Lensch MW, Brothman AR, Feldman GM.
    Neurology; 1992 Dec 01; 42(12):2295-9. PubMed ID: 1461382
    [Abstract] [Full Text] [Related]

  • 14. 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 01; 42(7):1021-5. PubMed ID: 8674184
    [Abstract] [Full Text] [Related]

  • 15. Charcot-Marie-Tooth neuropathy type 1A with both duplication and non-duplication.
    Ionasescu VV, Ionasescu R, Searby C, Barker DF.
    Hum Mol Genet; 1993 Apr 01; 2(4):405-10. PubMed ID: 8099303
    [Abstract] [Full Text] [Related]

  • 16. DNA duplication associated with Charcot-Marie-Tooth disease type 1A.
    Lupski JR, de Oca-Luna RM, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, Saucedo-Cardenas O, Barker DF, Killian JM, Garcia CA, Chakravarti A, Patel PI.
    Cell; 1991 Jul 26; 66(2):219-32. PubMed ID: 1677316
    [Abstract] [Full Text] [Related]

  • 17. 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 Jul 26; 11(2):109-13. PubMed ID: 9482573
    [Abstract] [Full Text] [Related]

  • 18. Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: first report of a de novo duplication with a maternal origin.
    Blair IP, Nash J, Gordon MJ, Nicholson GA.
    Am J Hum Genet; 1996 Mar 26; 58(3):472-6. PubMed ID: 8644705
    [Abstract] [Full Text] [Related]

  • 19. Mosaicism for Charcot-Marie-Tooth disease type 1A: onset in childhood suggests somatic reversion in early developmental stages.
    Rautenstrauss B, Liehr T, Fuchs C, Bevot A, Bornemann A, Postler E, Meyermann R, Uhlhaas S, Friedl W, Michaelis R.
    Int J Mol Med; 1998 Feb 26; 1(2):333-7. PubMed ID: 9852234
    [Abstract] [Full Text] [Related]

  • 20. Charcot-Marie-Tooth disease and related inherited neuropathies.
    Murakami T, Garcia CA, Reiter LT, Lupski JR.
    Medicine (Baltimore); 1996 Sep 26; 75(5):233-50. PubMed ID: 8862346
    [Abstract] [Full Text] [Related]

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