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Journal Abstract Search

205 related items for PubMed ID: 8135298

  • 1. 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]

  • 2. [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 Sep 01; 37(6):55-9. PubMed ID: 15067947
    [Abstract] [Full Text] [Related]

  • 3. Prenatal detection of a 17p11.2 duplication resulting from a rare recombination event and novel PCR-based strategy for molecular identification of Charcot-Marie-Tooth disease type 1A.
    Bernard R, Labelle V, Negre P, Tardieu S, Azulay JP, Malzac P, Mattéi JF, Leguern E, Philip N, Lévy N.
    Eur J Hum Genet; 2000 Mar 01; 8(3):229-35. PubMed ID: 10780790
    [Abstract] [Full Text] [Related]

  • 4. Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A.
    Kashork CD, Chen KS, Lupski JR, Shaffer LG.
    Ann N Y Acad Sci; 1999 Sep 14; 883():457-9. PubMed ID: 10586272
    [Abstract] [Full Text] [Related]

  • 5. 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 14; 1(1):29-33. PubMed ID: 1301995
    [Abstract] [Full Text] [Related]

  • 6. 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 14; 97(5):642-9. PubMed ID: 8655146
    [Abstract] [Full Text] [Related]

  • 7. Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory.
    Shaffer LG, Kennedy GM, Spikes AS, Lupski JR.
    Am J Med Genet; 1997 Mar 31; 69(3):325-31. PubMed ID: 9096765
    [Abstract] [Full Text] [Related]

  • 8. Polymorphic short tandem repeats for PCR-based diagnosis of the Charcot-Marie-Tooth 1A duplication in Ukraine.
    Hryshchenko NV, Kravchenko SA, Livshits LA.
    Tsitol Genet; 2005 Mar 31; 39(5):56-61. PubMed ID: 16398147
    [Abstract] [Full Text] [Related]

  • 9. [Genetics of peripheral neuropathies and hereditary ataxias].
    Palau F, Sevilla T.
    Neurologia; 1995 Dec 31; 10 Suppl 1():32-43. PubMed ID: 8838557
    [Abstract] [Full Text] [Related]

  • 10. Novel PCR-based diagnostic tools for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsies.
    Stronach EA, Clark C, Bell C, Löfgren A, McKay NG, Timmerman V, Van Broeckhoven C, Haites NE.
    J Peripher Nerv Syst; 1999 Dec 31; 4(2):117-22. PubMed ID: 10442687
    [Abstract] [Full Text] [Related]

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

  • 12. 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 31; 15(7):488-92. PubMed ID: 15941660
    [Abstract] [Full Text] [Related]

  • 13. 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 31; 89(11):395-9. PubMed ID: 8972170
    [Abstract] [Full Text] [Related]

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  • 15. 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 31; 2(4):292-300. PubMed ID: 1303282
    [Abstract] [Full Text] [Related]

  • 16. The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A.
    Patel PI, Roa BB, Welcher AA, Schoener-Scott R, Trask BJ, Pentao L, Snipes GJ, Garcia CA, Francke U, Shooter EM, Lupski JR, Suter U.
    Nat Genet; 1992 Jun 31; 1(3):159-65. PubMed ID: 1303228
    [Abstract] [Full Text] [Related]

  • 17. 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 31; 1(3):176-9. PubMed ID: 1303231
    [Abstract] [Full Text] [Related]

  • 18. 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 31; 1(3):171-5. PubMed ID: 1303230
    [Abstract] [Full Text] [Related]

  • 19. A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP.
    Thiel CT, Kraus C, Rauch A, Ekici AB, Rautenstrauss B, Reis A.
    Eur J Hum Genet; 2003 Feb 31; 11(2):170-8. PubMed ID: 12634865
    [Abstract] [Full Text] [Related]

  • 20. 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 Feb 31; 6(4):355-60. PubMed ID: 8775423
    [Abstract] [Full Text] [Related]

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