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Journal Abstract Search

515 related items for PubMed ID: 1677316

  • 1. 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]

  • 2. 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 26; 88(2):215-8. PubMed ID: 1721895
    [Abstract] [Full Text] [Related]

  • 3. 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 26; 2(4):405-10. PubMed ID: 8099303
    [Abstract] [Full Text] [Related]

  • 4. [The diagnosis and prevalence of locus CMT1A duplication in Charcot-Marie-Tooth disease type 1].
    Bort S, Sevilla T, Vílchez JJ, Prieto F, Palau F.
    Med Clin (Barc); 1995 May 06; 104(17):648-52. PubMed ID: 7623491
    [Abstract] [Full Text] [Related]

  • 5. 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 06; 53(4):853-63. PubMed ID: 8105684
    [Abstract] [Full Text] [Related]

  • 6. 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 06; 91(4):392-4. PubMed ID: 8500795
    [Abstract] [Full Text] [Related]

  • 7. 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 06; 2(1):43-6. PubMed ID: 9933299
    [Abstract] [Full Text] [Related]

  • 8. 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 06; 1(1):29-33. PubMed ID: 1301995
    [Abstract] [Full Text] [Related]

  • 9. 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 06; 98(1):22-8. PubMed ID: 8682501
    [Abstract] [Full Text] [Related]

  • 10. Allelic heterogeneity in hereditary motor and sensory neuropathy type Ia (Charcot-Marie-Tooth disease type 1a).
    Hoogendijk JE, Janssen EA, Gabreëls-Festen AA, Hensels GW, Joosten EM, Gabreëls FJ, Zorn I, Valentijn LJ, Baas F, Ongerboer de Visser BW.
    Neurology; 1993 May 06; 43(5):1010-5. PubMed ID: 8492918
    [Abstract] [Full Text] [Related]

  • 11. Molecular genetics and neuropathology of Charcot-Marie-Tooth disease type 1A.
    Lupski JR, Garcia CA.
    Brain Pathol; 1992 Oct 06; 2(4):337-49. PubMed ID: 1341967
    [Abstract] [Full Text] [Related]

  • 12. Molecular characterization of Charcot-Marie-Tooth patients in 15 pedigrees from France.
    Lucotte G, Berriche S, Bathelier C, Turpin JC, Jacob P, Paquet JM, Pluot M, Vandenberghe A.
    Genet Couns; 1995 Oct 06; 6(4):355-60. PubMed ID: 8775423
    [Abstract] [Full Text] [Related]

  • 13. Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis.
    Palau F, Löfgren A, De Jonghe P, Bort S, Nelis E, Sevilla T, Martin JJ, Vilchez J, Prieto F, Van Broeckhoven C.
    Hum Mol Genet; 1993 Dec 06; 2(12):2031-5. PubMed ID: 8111370
    [Abstract] [Full Text] [Related]

  • 14. Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2.
    Vance JM, Barker D, Yamaoka LH, Stajich JM, Loprest L, Hung WY, Fischbeck K, Roses AD, Pericak-Vance MA.
    Genomics; 1991 Apr 06; 9(4):623-8. PubMed ID: 1674726
    [Abstract] [Full Text] [Related]

  • 15. 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 06; 42(12):2295-9. PubMed ID: 1461382
    [Abstract] [Full Text] [Related]

  • 16. Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12.
    Timmerman V, Raeymaekers P, De Jonghe P, De Winter G, Swerts L, Jacobs K, Gheuens J, Martin JJ, Vandenberghe A, Van Broeckhoven C.
    Am J Hum Genet; 1990 Oct 06; 47(4):680-5. PubMed ID: 2220808
    [Abstract] [Full Text] [Related]

  • 17. Analysis of the DNA duplication 17p11.2 in Charcot-Marie-Tooth neuropathy type 1 pedigrees: additional evidence for a third autosomal CMT1 locus.
    Chance PF, Matsunami N, Lensch W, Smith B, Bird TD.
    Neurology; 1992 Oct 06; 42(10):2037-41. PubMed ID: 1407588
    [Abstract] [Full Text] [Related]

  • 18. Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1 neuropathy.
    Roa BB, Greenberg F, Gunaratne P, Sauer CM, Lubinsky MS, Kozma C, Meck JM, Magenis RE, Shaffer LG, Lupski JR.
    Hum Genet; 1996 May 06; 97(5):642-9. PubMed ID: 8655146
    [Abstract] [Full Text] [Related]

  • 19. 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 06; 15(7):488-92. PubMed ID: 15941660
    [Abstract] [Full Text] [Related]

  • 20. Detection of tandem duplications and implications for linkage analysis.
    Matise TC, Chakravarti A, Patel PI, Lupski JR, Nelis E, Timmerman V, Van Broeckhoven C, Weeks DE.
    Am J Hum Genet; 1994 Jun 06; 54(6):1110-21. PubMed ID: 8198134
    [Abstract] [Full Text] [Related]

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