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Journal Abstract Search

419 related items for PubMed ID: 8071969

  • 1. 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; 31(6):435-41. PubMed ID: 8071969
    [Abstract] [Full Text] [Related]

  • 2. 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; 42(10):2037-41. PubMed ID: 1407588
    [Abstract] [Full Text] [Related]

  • 3. [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]

  • 4. 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 06; 46(4):291-4. PubMed ID: 7834893
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  • 5. [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 Oct 06; 37(6):55-9. PubMed ID: 15067947
    [Abstract] [Full Text] [Related]

  • 6. Screening of dominantly inherited Charcot-Marie-Tooth neuropathies.
    Ionasescu VV, Ionasescu R, Searby C.
    Muscle Nerve; 1993 Nov 06; 16(11):1232-8. PubMed ID: 8413376
    [Abstract] [Full Text] [Related]

  • 7. Charcot-Marie-Tooth disease type 1A: a family study with microsatellites.
    Qu Y, Carpenter NJ, Whetsell L, Smith SP, Say B.
    J Okla State Med Assoc; 1996 Nov 06; 89(11):395-9. PubMed ID: 8972170
    [Abstract] [Full Text] [Related]

  • 8. 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 06; 29(11):807-12. PubMed ID: 1453432
    [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. 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 06; 29(1):5-11. PubMed ID: 1552545
    [Abstract] [Full Text] [Related]

  • 11. 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 06; 41(1):104-8. PubMed ID: 9005872
    [Abstract] [Full Text] [Related]

  • 12. Neurophysiology and molecular genetics of Charcot-Marie-Tooth type 1 neuropathy in Croatian children: follow-up study.
    Barisić N, Mihatov I.
    Croat Med J; 2000 Sep 06; 41(3):306-13. PubMed ID: 10962051
    [Abstract] [Full Text] [Related]

  • 13. 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 Sep 06; 6(4):355-60. PubMed ID: 8775423
    [Abstract] [Full Text] [Related]

  • 14. The frequency of 17p11.2 duplication and Connexin 32 mutations in 282 Charcot-Marie-Tooth families in relation to the mode of inheritance and motor nerve conduction velocity.
    Dubourg O, Tardieu S, Birouk N, Gouider R, Léger JM, Maisonobe T, Brice A, Bouche P, LeGuern E.
    Neuromuscul Disord; 2001 Jul 06; 11(5):458-63. PubMed ID: 11404117
    [Abstract] [Full Text] [Related]

  • 15. [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 06; 31(5):452-7. PubMed ID: 10487071
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. 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 06; 58(3):472-6. PubMed ID: 8644705
    [Abstract] [Full Text] [Related]

  • 18. 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 06; 2(4):292-300. PubMed ID: 1303282
    [Abstract] [Full Text] [Related]

  • 19. Frequency of duplication at 17p11.2 in families of northeast Italy with Charcot-Marie-Tooth disease type 1.
    Mostacciuolo ML, Schiavon F, Angelini C, Miccoli B, Piccolo F, Danieli GA.
    Neuroepidemiology; 1995 Dec 06; 14(2):49-53. PubMed ID: 7891814
    [Abstract] [Full Text] [Related]

  • 20. [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 06; 130(3-4):59-63. PubMed ID: 12154515
    [Abstract] [Full Text] [Related]

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