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157 related items for PubMed ID: 8099303

  • 1. 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; 2(4):405-10. PubMed ID: 8099303
    [Abstract] [Full Text] [Related]

  • 2. 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 Apr; 31(3-4):179-87. PubMed ID: 8011481
    [Abstract] [Full Text] [Related]

  • 3. [Phenotypic heterogeneity in Japanese Charcot-Marie-Tooth disease type 1A patients with PMP-22 gene duplication].
    Yamamoto M, Sobue G, Yasuda T, Yamamoto K, Kumazawa K, Mitsuma T.
    Rinsho Shinkeigaku; 1995 Oct; 35(10):1085-91. PubMed ID: 8821490
    [Abstract] [Full Text] [Related]

  • 4. 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]

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

  • 6. Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group.
    Brice A, Ravisé N, Stevanin G, Gugenheim M, Bouche P, Penet C, Agid Y.
    J Med Genet; 1992 Nov; 29(11):807-12. PubMed ID: 1453432
    [Abstract] [Full Text] [Related]

  • 7. Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group.
    Raeymaekers P, Timmerman V, Nelis E, Van Hul W, De Jonghe P, Martin JJ, Van Broeckhoven C.
    J Med Genet; 1992 Jan; 29(1):5-11. PubMed ID: 1552545
    [Abstract] [Full Text] [Related]

  • 8. [A sporadic case of Charcot-Marie-Tooth disease type 1 A associated with a duplication in chromosome 17 p11.2-p12].
    Inoue M, Kojima M, Aikoh H, Sugai K, Murakami N, Nonaka I, Hayasaka K, Yamamoto M, Sobue G.
    No To Hattatsu; 1999 Sep; 31(5):452-7. PubMed ID: 10487071
    [Abstract] [Full Text] [Related]

  • 9. The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication.
    Timmerman V, Nelis E, Van Hul W, Nieuwenhuijsen BW, Chen KL, Wang S, Ben Othman K, Cullen B, Leach RJ, Hanemann CO.
    Nat Genet; 1992 Jun; 1(3):171-5. PubMed ID: 1303230
    [Abstract] [Full Text] [Related]

  • 10. The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A.
    Valentijn LJ, Bolhuis PA, Zorn I, Hoogendijk JE, van den Bosch N, Hensels GW, Stanton VP, Housman DE, Fischbeck KH, Ross DA.
    Nat Genet; 1992 Jun; 1(3):166-70. PubMed ID: 1303229
    [Abstract] [Full Text] [Related]

  • 11. Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A.
    Matsunami N, Smith B, Ballard L, Lensch MW, Robertson M, Albertsen H, Hanemann CO, Müller HW, Bird TD, White R.
    Nat Genet; 1992 Jun; 1(3):176-9. PubMed ID: 1303231
    [Abstract] [Full Text] [Related]

  • 12. Patients homozygous for the 17p11.2 duplication in Charcot-Marie-Tooth type 1A disease.
    LeGuern E, Gouider R, Mabin D, Tardieu S, Birouk N, Parent P, Bouche P, Brice A.
    Ann Neurol; 1997 Jan; 41(1):104-8. PubMed ID: 9005872
    [Abstract] [Full Text] [Related]

  • 13. Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A.
    Valentijn LJ, Baas F, Wolterman RA, Hoogendijk JE, van den Bosch NH, Zorn I, Gabreëls-Festen AW, de Visser M, Bolhuis PA.
    Nat Genet; 1992 Dec; 2(4):288-91. PubMed ID: 1303281
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. Screening of the 17p11.2--p12 region in a large cohort of patients with Charcot-Marie-Tooth (CMT) disease or hereditary neuropathy with liability to pressure palsies (HNPP).
    Kabzinska D, Pierscinska J, Kochanski A.
    J Appl Genet; 2009 Jan; 50(3):283-8. PubMed ID: 19638685
    [Abstract] [Full Text] [Related]

  • 16. [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]

  • 17. Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases.
    Birouk N, Gouider R, Le Guern E, Gugenheim M, Tardieu S, Maisonobe T, Le Forestier N, Agid Y, Brice A, Bouche P.
    Brain; 1997 May 06; 120 ( Pt 5)():813-23. PubMed ID: 9183252
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. Detection of Charcot-Marie-Tooth type 1A duplication by the polymerase chain reaction.
    Blair IP, Kennerson ML, Nicholson GA.
    Clin Chem; 1995 Aug 26; 41(8 Pt 1):1105-8. PubMed ID: 7628084
    [Abstract] [Full Text] [Related]

  • 20. 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 26; 1(1):29-33. PubMed ID: 1301995
    [Abstract] [Full Text] [Related]

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