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Journal Abstract Search

685 related items for PubMed ID: 14749005

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  • 3. Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome.
    Kubota T, Sutcliffe JS, Aradhya S, Gillessen-Kaesbach G, Christian SL, Horsthemke B, Beaudet AL, Ledbetter DH.
    Am J Med Genet; 1996 Dec 02; 66(1):77-80. PubMed ID: 8957518
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  • 6. Molecular markers for diagnosis of Prader-Willi syndrome in thai patients by fish.
    Wiriyaukaradecha S, Patmasiriwat P, Wasant P, Tantiniti P.
    Southeast Asian J Trop Med Public Health; 2003 Dec 02; 34(4):881-6. PubMed ID: 15115105
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  • 7. Highest accuracy of combined consensus clinical criteria and SNRPN gene molecular markers in diagnosis of Prader-Willi syndrome in Thai patients.
    Promkan M, Teingtat S, Stheinkijkarnchai A, Wasant P, Patmasiriwat P.
    Clin Chem Lab Med; 2007 Dec 02; 45(8):972-80. PubMed ID: 17867985
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  • 8. Quantitative analysis of SNRPN(correction of SRNPN) gene methylation by pyrosequencing as a diagnostic test for Prader-Willi syndrome and Angelman syndrome.
    White HE, Durston VJ, Harvey JF, Cross NC.
    Clin Chem; 2006 Jun 02; 52(6):1005-13. PubMed ID: 16574761
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  • 12. Diagnostic test for the Prader-Willi syndrome by SNRPN expression in blood.
    Wevrick R, Francke U.
    Lancet; 1996 Oct 19; 348(9034):1068-9. PubMed ID: 8874459
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  • 17. Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q.
    Ishikawa T, Kibe T, Wada Y.
    Am J Med Genet; 1996 Apr 24; 62(4):350-2. PubMed ID: 8723064
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  • 18. Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2).
    Park JP, Moeschler JB, Hani VH, Hawk AB, Belloni DR, Noll WW, Mohandas TK.
    Am J Med Genet; 1998 Jun 30; 78(2):134-9. PubMed ID: 9674903
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  • 19. Prader-Willi and Angelman syndromes: diagnosis with a bisulfite-treated methylation-specific PCR method.
    Kosaki K, McGinniss MJ, Veraksa AN, McGinnis WJ, Jones KL.
    Am J Med Genet; 1997 Dec 19; 73(3):308-13. PubMed ID: 9415690
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  • 20. Submicroscopic deletion in cousins with Prader-Willi syndrome causes a grandmatrilineal inheritance pattern: effects of imprinting.
    Ming JE, Blagowidow N, Knoll JH, Rollings L, Fortina P, McDonald-McGinn DM, Spinner NB, Zackai EH.
    Am J Med Genet; 2000 May 01; 92(1):19-24. PubMed ID: 10797418
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