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Journal Abstract Search

248 related items for PubMed ID: 1453432

  • 1. 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]

  • 2. 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]

  • 3. Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group.
    Raeymaekers P, Timmerman V, Nelis E, De Jonghe P, Hoogendijk JE, Baas F, Barker DF, Martin JJ, De Visser M, Bolhuis PA.
    Neuromuscul Disord; 1991 Jan; 1(2):93-7. PubMed ID: 1822787
    [Abstract] [Full Text] [Related]

  • 4. Non-radioactive detection of 17p11.2 duplication in CMT1A: a study of 78 patients.
    Schiavon F, Mostacciuolo ML, Saad F, Merlini L, Siciliano G, Angelini C, Danieli GA.
    J Med Genet; 1994 Nov; 31(11):880-3. PubMed ID: 7853375
    [Abstract] [Full Text] [Related]

  • 5. 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; 58(3):472-6. PubMed ID: 8644705
    [Abstract] [Full Text] [Related]

  • 6. 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; 43(5):1010-5. PubMed ID: 8492918
    [Abstract] [Full Text] [Related]

  • 7. [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]

  • 8. [Study of the duplication of 17p11.2-12 chromosome region in the patients with hereditary motor and sensory neuropathy type 1A].
    Hryshchenko NV, Bychkova AM, Pichkur NA, Skyban HV, Dmytrenko VV, Livshyts' LA.
    Tsitol Genet; 2003 May 06; 37(6):55-9. PubMed ID: 15067947
    [Abstract] [Full Text] [Related]

  • 9. Duplication of part of chromosome 17 is commonly associated with hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease type 1).
    Hallam PJ, Harding AE, Berciano J, Barker DF, Malcolm S.
    Ann Neurol; 1992 May 06; 31(5):570-2. PubMed ID: 1596093
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. 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]

  • 12. Charcot-Marie-Tooth neuropathy type 1A mutation: apparent crossovers with D17S122 are due to a duplication.
    Nicholson GA, Kennerson ML, Keats BJ, Mesterovic N, Churcher W, Barker D, Ross DA.
    Am J Med Genet; 1992 Nov 01; 44(4):455-60. PubMed ID: 1442887
    [Abstract] [Full Text] [Related]

  • 13. 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 01; 53(4):853-63. PubMed ID: 8105684
    [Abstract] [Full Text] [Related]

  • 14. 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 01; 2(4):292-300. PubMed ID: 1303282
    [Abstract] [Full Text] [Related]

  • 15. [Analysis of mutations in the chromosome 17p11.2 region in patients with Charcot-Marie-Tooth type 1 disease and in patients with tomaculous neuropathy].
    Zamurović N, Milić V, Dacković J, Zamurović D, Culjković B, Parlović S, Apostolski S, Romac S.
    Srp Arh Celok Lek; 2002 Dec 01; 130(3-4):59-63. PubMed ID: 12154515
    [Abstract] [Full Text] [Related]

  • 16. Charcot-Marie-Tooth disease type 1a (CMT1a): evidence for trisomy of the region p11.2 of chromosome 17 in south Wales families.
    MacMillan JC, Upadhyaya M, Harper PS.
    J Med Genet; 1992 Jan 01; 29(1):12-3. PubMed ID: 1552536
    [Abstract] [Full Text] [Related]

  • 17. Charcot-Marie-Tooth disease in northern Sweden: pedigree analysis and the presence of the duplication in chromosome 17p11.2.
    Holmberg BH, Holmgren G, Nelis E, van Broeckhoven C, Westerberg B.
    J Med Genet; 1994 Jun 01; 31(6):435-41. PubMed ID: 8071969
    [Abstract] [Full Text] [Related]

  • 18. 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 01; 88(2):215-8. PubMed ID: 1721895
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. Further evidence of a duplication in 17p11.2 in families with recurrence of HMSN Ia (Charcot-Marie-Tooth neuropathy type Ia).
    Müller E, Mostacciuolo ML, Micaglio G, Angelini C, Danieli GA.
    Hum Genet; 1992 Nov 01; 90(3):231-4. PubMed ID: 1487234
    [Abstract] [Full Text] [Related]

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