These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

124 related items for PubMed ID: 10371381

  • 1. Charcot-Marie-Tooth disease type 1A duplication by PCR analysis.
    Tachi N, Kozuka N, Ohya K, Chiba S.
    Pediatr Neurol; 1999 May; 20(5):360-3. PubMed ID: 10371381
    [Abstract] [Full Text] [Related]

  • 2. 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; 8(3):229-35. PubMed ID: 10780790
    [Abstract] [Full Text] [Related]

  • 3. Rapid detection of a recombinant hotspot associated with Charcot-Marie-Tooth disease type IA duplication by a PCR-based DNA test.
    Chang JG, Jong YJ, Wang WP, Wang JC, Hu CJ, Lo MC, Chang CP.
    Clin Chem; 1998 Feb; 44(2):270-4. PubMed ID: 9474023
    [Abstract] [Full Text] [Related]

  • 4. Molecular and pathological studies in Charcot-Marie-Tooth disease 1A.
    Kosuka N, Tachi N, Ohya K, Chiba S.
    Brain Dev; 1997 Nov; 19(7):464-8. PubMed ID: 9408592
    [Abstract] [Full Text] [Related]

  • 5. Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: new tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A. French CMT Collaborative Research Group.
    Lopes J, LeGuern E, Gouider R, Tardieu S, Abbas N, Birouk N, Gugenheim M, Bouche P, Agid Y, Brice A.
    Am J Hum Genet; 1996 Jun; 58(6):1223-30. PubMed ID: 8651299
    [Abstract] [Full Text] [Related]

  • 6. 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 Jun; 4(2):117-22. PubMed ID: 10442687
    [Abstract] [Full Text] [Related]

  • 7. [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]

  • 8. PCR-based strategy for the diagnosis of hereditary neuropathy with liability to pressure palsies and Charcot-Marie-Tooth disease type 1A.
    Young P, Stögbauer F, Wiebusch H, Löfgren A, Timmerman V, Van Broeckhoven C, Ringelstein EB, Assmann G, Funke H.
    Neurology; 1998 Mar; 50(3):760-3. PubMed ID: 9521270
    [Abstract] [Full Text] [Related]

  • 9. 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 Mar; 50(3):283-8. PubMed ID: 19638685
    [Abstract] [Full Text] [Related]

  • 10. 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; 98(1):22-8. PubMed ID: 8682501
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. Recombination breakpoints in the Charcot-Marie-Tooth 1A repeat sequence in Norwegian families.
    Aarskog NK, Vedeler CA.
    Acta Neurol Scand; 2001 Aug; 104(2):97-100. PubMed ID: 11493226
    [Abstract] [Full Text] [Related]

  • 13. Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP): reliable detection of the CMT1A duplication and HNPP deletion using 8 microsatellite markers in 2 multiplex PCRs.
    Seeman P, Mazanec R, Zidar J, Hrusáková S, Ctvrtecková M, Rautenstrauss B.
    Int J Mol Med; 2000 Oct; 6(4):421-6. PubMed ID: 10998431
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes.
    Inoue K, Dewar K, Katsanis N, Reiter LT, Lander ES, Devon KL, Wyman DW, Lupski JR, Birren B.
    Genome Res; 2001 Jun; 11(6):1018-33. PubMed ID: 11381029
    [Abstract] [Full Text] [Related]

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

  • 17. Clustering of CMT1A duplication breakpoints in a 700 bp interval of the CMT1A-REP repeat.
    Yamamoto M, Keller MP, Yasuda T, Hayasaka K, Ohnishi A, Yoshikawa H, Yanagihara T, Mitsuma T, Chance PF, Sobue G.
    Hum Mutat; 1998 Aug; 11(2):109-13. PubMed ID: 9482573
    [Abstract] [Full Text] [Related]

  • 18. A large family with Charcot-Marie-Tooth Type 1a and Type 2 diabetes mellitus.
    Koç F, Sarica Y, Yerdelen D, Baris I, Battaloglu E, Sert M.
    Int J Neurosci; 2006 Feb; 116(2):103-14. PubMed ID: 16393877
    [Abstract] [Full Text] [Related]

  • 19. Atypical phenotype of charcot-marie-tooth disease type 1A.
    Murakami T, Oomori H, Hara A, Uyama E, Mita S, Uchino M.
    Muscle Nerve; 1999 Nov; 22(11):1593-6. PubMed ID: 10514240
    [Abstract] [Full Text] [Related]

  • 20. [Detection of the PMP22 gene duplication in peripheral neuropathy patients: a study in Mexican population].
    Cortés H, Hernández-Hernández Ó, Bautista-Tirado T, Escobar-Cedillo RE, Magaña JJ, Leyva-García N.
    Rev Neurol; 2014 Aug 01; 59(3):111-7. PubMed ID: 25030070
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 7.