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Journal Abstract Search

106 related items for PubMed ID: 8725788

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  • 3. 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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  • 7. 17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome.
    Girirajan S, Williams S, Garbern J, Nowak N, Hatchwell E, Elsea S.
    Clin Genet; 2007 Jul; 72(1):47-58. PubMed ID: 17594399
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  • 8. Smith-Magenis syndrome resulting from a de novo direct insertion of proximal 17q into 17p11.2.
    Park JP, Moeschler JB, Davies WS, Patel PI, Mohandas TK.
    Am J Med Genet; 1998 Apr 28; 77(1):23-7. PubMed ID: 9557889
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  • 11. Facilitated diagnosis of CMT1A duplication in chromosome 17p11.2-12: analysis with a CMT1A-REP repeat probe and photostimulated luminescence imaging.
    Ikegami T, Ikeda H, Chance PF, Kiyosawa H, Yamamoto M, Sobue G, Ohnishi A, Tachi N, Hayasaka K.
    Hum Mutat; 1997 Apr 28; 9(6):563-6. PubMed ID: 9195231
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  • 12. 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
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  • 14. Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies.
    Mariman EC, Gabreëls-Festen AA, van Beersum SE, Valentijn LJ, Baas F, Bolhuis PA, Jongen PJ, Ropers HH, Gabreëls FJ.
    Ann Neurol; 1994 Oct 31; 36(4):650-5. PubMed ID: 7944298
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  • 15. 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 Oct 31; 4(2):117-22. PubMed ID: 10442687
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  • 16. The brain finger protein gene (ZNF179), a member of the RING finger family, maps within the Smith-Magenis syndrome region at 17p11.2.
    Kimura T, Arakawa Y, Inoue S, Fukushima Y, Kondo I, Koyama K, Hosoi T, Orimo A, Muramatsu M, Nakamura Y, Abe T, Inazawa J.
    Am J Med Genet; 1997 Mar 31; 69(3):320-4. PubMed ID: 9096764
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