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255 related items for PubMed ID: 9415690

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus.
    Zeschnigk M, Lich C, Buiting K, Doerfler W, Horsthemke B.
    Eur J Hum Genet; 1997 Dec 19; 5(2):94-8. PubMed ID: 9195159
    [Abstract] [Full Text] [Related]

  • 3. The feasibility of PCR-based diagnosis of Prader-Willi and Angelman syndromes using restriction analysis after bisulfite modification of genomic DNA.
    Velinov M, Gu H, Genovese M, Duncan C, Brown WT, Jenkins E.
    Mol Genet Metab; 2000 Jan 19; 69(1):81-3. PubMed ID: 10655162
    [Abstract] [Full Text] [Related]

  • 4. [Detection of Prader-Willi syndrome by methylation-specific PCR].
    Song M, Li L, Fu J, Li X, Lu G.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2000 Feb 19; 17(1):54-6. PubMed ID: 10653912
    [Abstract] [Full Text] [Related]

  • 5. Validation of a multiplex methylation-sensitive PCR assay for the diagnosis of Prader-Willi and Angelman's syndromes.
    Buller A, Pandya A, Jackson-Cook C, Bodurtha J, Tekin M, Wilkinson DS, Garrett CT, Ferreira-Gonzalez A.
    Mol Diagn; 2000 Sep 19; 5(3):239-43. PubMed ID: 11070159
    [Abstract] [Full Text] [Related]

  • 6. A novel MSP/DHPLC method for the investigation of the methylation status of imprinted genes enables the molecular detection of low cell mosaicisms.
    Baumer A, Wiedemann U, Hergersberg M, Schinzel A.
    Hum Mutat; 2001 May 19; 17(5):423-30. PubMed ID: 11317358
    [Abstract] [Full Text] [Related]

  • 7. [Molecular genetic study of causes of the Prader-Willi and Angelman syndrome].
    Capková CP, Vrtĕl R, Santavá A, Zapletalová J, Krsiaková J, Hyjánek J, Santavý J.
    Cas Lek Cesk; 2005 May 19; 144(2):113-8. PubMed ID: 15807298
    [Abstract] [Full Text] [Related]

  • 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 19; 52(6):1005-13. PubMed ID: 16574761
    [Abstract] [Full Text] [Related]

  • 9. Identification of CpG methylation of the SNRPN gene by methylation-specific multiplex PCR.
    Hung CC, Lin SY, Lin SP, Niu DM, Lee NC, Cheng WF, Chen CP, Lin WL, Lee CN, Su YN.
    Electrophoresis; 2009 Jan 19; 30(2):410-6. PubMed ID: 19137525
    [Abstract] [Full Text] [Related]

  • 10. Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method.
    Zeschnigk M, Schmitz B, Dittrich B, Buiting K, Horsthemke B, Doerfler W.
    Hum Mol Genet; 1997 Mar 19; 6(3):387-95. PubMed ID: 9147641
    [Abstract] [Full Text] [Related]

  • 11. Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region.
    Sutcliffe JS, Nakao M, Christian S, Orstavik KH, Tommerup N, Ledbetter DH, Beaudet AL.
    Nat Genet; 1994 Sep 19; 8(1):52-8. PubMed ID: 7987392
    [Abstract] [Full Text] [Related]

  • 12. An analytical method for the detection of methylation differences at specific chromosomal loci using primer extension and ion pair reverse phase HPLC.
    Matin MM, Baumer A, Hornby DP.
    Hum Mutat; 2002 Oct 19; 20(4):305-11. PubMed ID: 12325026
    [Abstract] [Full Text] [Related]

  • 13. Quantification of the methylation status of the PWS/AS imprinted region: comparison of two approaches based on bisulfite sequencing and methylation-sensitive MLPA.
    Dikow N, Nygren AO, Schouten JP, Hartmann C, Krämer N, Janssen B, Zschocke J.
    Mol Cell Probes; 2007 Jun 19; 21(3):208-15. PubMed ID: 17303379
    [Abstract] [Full Text] [Related]

  • 14. Methylation-specific PCR simplifies imprinting analysis.
    Kubota T, Das S, Christian SL, Baylin SB, Herman JG, Ledbetter DH.
    Nat Genet; 1997 May 19; 16(1):16-7. PubMed ID: 9140389
    [No Abstract] [Full Text] [Related]

  • 15. Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation.
    Saitoh S, Buiting K, Cassidy SB, Conroy JM, Driscoll DJ, Gabriel JM, Gillessen-Kaesbach G, Glenn CC, Greenswag LR, Horsthemke B, Kondo I, Kuwajima K, Niikawa N, Rogan PK, Schwartz S, Seip J, Williams CA, Nicholls RD.
    Am J Med Genet; 1997 Jan 20; 68(2):195-206. PubMed ID: 9028458
    [Abstract] [Full Text] [Related]

  • 16. Robust, easy, and dose-sensitive methylation test for the diagnosis of Prader-Willi and Angelman syndromes.
    Martínez F, León AM, Monfort S, Oltra S, Roselló M, Orellana C.
    Genet Test; 2006 Jan 20; 10(3):174-7. PubMed ID: 17020468
    [Abstract] [Full Text] [Related]

  • 17. 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
    [Abstract] [Full Text] [Related]

  • 18. A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes.
    Chotai KA, Payne SJ.
    J Med Genet; 1998 Jun 02; 35(6):472-5. PubMed ID: 9643288
    [Abstract] [Full Text] [Related]

  • 19. [Prader-Willi syndrome and genomic imprinting].
    Wang W, Wang DF, Cui YF, Ni JH, Dong ZY, Fu MF, Fu HM, Lu GQ, Chen FS.
    Zhonghua Er Ke Za Zhi; 2003 Jun 02; 41(6):453-6. PubMed ID: 14749005
    [Abstract] [Full Text] [Related]

  • 20. Methylation-sensitive high-resolution melting-curve analysis of the SNRPN gene as a diagnostic screen for Prader-Willi and Angelman syndromes.
    White HE, Hall VJ, Cross NC.
    Clin Chem; 2007 Nov 02; 53(11):1960-2. PubMed ID: 17890436
    [Abstract] [Full Text] [Related]

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