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Journal Abstract Search

121 related items for PubMed ID: 11058901

  • 1. Diagnosis of haploidy and triploidy based on measurement of gene copy number by real-time PCR.
    Wilke K, Duman B, Horst J.
    Hum Mutat; 2000 Nov; 16(5):431-6. PubMed ID: 11058901
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  • 2. 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; 11(2):170-8. PubMed ID: 12634865
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  • 3. 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 Feb; 4(2):117-22. PubMed ID: 10442687
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  • 4. [Detection of duplications or deletions of the PMP22 gene using real-time quantitative PCR].
    Zhang FF, Tang BS, Shen Y, Zhao GH, Xia K, Zhao YQ, Chen B, Zhang C, Pan Q, Cai F, Liu XM, Luo W, Zhang RX, Guo P.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Oct; 22(5):537-40. PubMed ID: 16215943
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  • 7. Effectiveness of real-time quantitative PCR compare to repeat PCR for the diagnosis of Charcot-Marie-Tooth Type 1A and hereditary neuropathy with liability to pressure palsies.
    Choi JR, Lee WH, Sunwoo IN, Lee EK, Lee CH, Lim JB.
    Yonsei Med J; 2005 Jun 30; 46(3):347-52. PubMed ID: 15988805
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  • 9. A 1.5-Mb cosmid contig of the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12.
    Murakami T, Lupski JR.
    Genomics; 1996 May 15; 34(1):128-33. PubMed ID: 8661034
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  • 10. Comparison of two PCR-based molecular methods in the diagnosis of CMT 1A and HNPP diseases in Chinese.
    Chen SR, Lin KP, Kuo HC, Chen CM, Hsieh ST, Lee MJ, Yang CC, Liu CS, Huang CC, Lyu RK, Ro LS.
    Clin Neurol Neurosurg; 2008 May 15; 110(5):466-71. PubMed ID: 18353535
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  • 11. A rapid and definitive test for Charcot-Marie-Tooth 1A and hereditary neuropathy with liability to pressure palsies using multiplexed real-time PCR.
    Lorentzos P, Kaiser T, Kennerson ML, Nicholson GA.
    Genet Test; 2003 May 15; 7(2):135-8. PubMed ID: 12885335
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  • 12. Analysis of 17p11.2 chromosome region rearrangements in CMT1 patients from Ukraine.
    Hryshchenko NV, Livshits LA.
    Tsitol Genet; 2009 May 15; 43(1):36-41. PubMed ID: 19663313
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  • 14. Rapid detection of duplication/deletion of the PMP22 gene in patients with Charcot-Marie-Tooth disease Type 1A and hereditary neuropathy with liability to pressure palsy by real-time quantitative PCR using SYBR Green I dye.
    Kim SW, Lee KS, Jin HS, Lee TM, Koo SK, Lee YJ, Jung SC.
    J Korean Med Sci; 2003 Oct 15; 18(5):727-32. PubMed ID: 14555828
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  • 15. Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: comparison with the interphase FISH method.
    Slater H, Bruno D, Ren H, La P, Burgess T, Hills L, Nouri S, Schouten J, Choo KH.
    Hum Mutat; 2004 Aug 15; 24(2):164-71. PubMed ID: 15241798
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  • 16. Real-time quantitative polymerase chain reaction. A new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liability to pressure palsies.
    Aarskog NK, Vedeler CA.
    Hum Genet; 2000 Nov 15; 107(5):494-8. PubMed ID: 11140948
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  • 17. Determination of gene dosage at the PMP22 and androgen receptor loci by quantitative PCR.
    Poropat RA, Nicholson GA.
    Clin Chem; 1998 Apr 15; 44(4):724-30. PubMed ID: 9554482
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  • 19. 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 15; 50(3):760-3. PubMed ID: 9521270
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