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Journal Abstract Search

136 related items for PubMed ID: 17954495

  • 1. High-resolution melting for accurate assessment of DNA methylation.
    Dahl C, Guldberg P.
    Clin Chem; 2007 Nov; 53(11):1877-8. PubMed ID: 17954495
    [No Abstract] [Full Text] [Related]

  • 2. 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; 53(11):1960-2. PubMed ID: 17890436
    [Abstract] [Full Text] [Related]

  • 3. Methylation analysis at three different loci within the imprinted region of chromosome 15q11-13.
    Buchholz T, Jackson J, Smith A.
    Am J Med Genet; 1997 Oct 03; 72(1):117-9. PubMed ID: 9295088
    [No Abstract] [Full Text] [Related]

  • 4. Methylation-specific PCR simplifies imprinting analysis.
    Kubota T, Das S, Christian SL, Baylin SB, Herman JG, Ledbetter DH.
    Nat Genet; 1997 May 03; 16(1):16-7. PubMed ID: 9140389
    [No Abstract] [Full Text] [Related]

  • 5. 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 03; 52(6):1005-13. PubMed ID: 16574761
    [Abstract] [Full Text] [Related]

  • 6. 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 Jun 03; 5(2):94-8. PubMed ID: 9195159
    [Abstract] [Full Text] [Related]

  • 7. 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 03; 69(1):81-3. PubMed ID: 10655162
    [Abstract] [Full Text] [Related]

  • 8. A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes.
    Chotai KA, Payne SJ.
    J Med Genet; 1998 Jun 03; 35(6):472-5. PubMed ID: 9643288
    [Abstract] [Full Text] [Related]

  • 9. 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 03; 6(3):387-95. PubMed ID: 9147641
    [Abstract] [Full Text] [Related]

  • 10. Detection of imprinting mutations in Angelman syndrome using a probe for exon alpha of SNRPN.
    Beuten J, Sutcliffe JS, Casey BM, Beaudet AL, Hennekam RC, Willems PJ.
    Am J Med Genet; 1996 May 17; 63(2):414-5. PubMed ID: 8725798
    [No Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. A rapid and accurate methylation-sensitive high-resolution melting analysis assay for the diagnosis of Prader Willi and Angelman patients.
    Ribeiro Ferreira I, Darleans Dos Santos Cunha W, Henrique Ferreira Gomes L, Azevedo Cintra H, Lopes Cabral Guimarães Fonseca L, Ferreira Bastos E, Clinton Llerena J, Farias Meira de Vasconcelos Z, da Cunha Guida L.
    Mol Genet Genomic Med; 2019 Jun 19; 7(6):e637. PubMed ID: 31033246
    [Abstract] [Full Text] [Related]

  • 13. In and around SNRPN.
    Lalande M.
    Nat Genet; 1994 Sep 19; 8(1):5-7. PubMed ID: 7987391
    [No Abstract] [Full Text] [Related]

  • 14. Allelic dropout can cause false-positive results for Prader-Willi and Angelman syndrome testing.
    Hussain Askree S, Hjelm LN, Ali Pervaiz M, Adam M, Bean LJ, Hedge M, Coffee B.
    J Mol Diagn; 2011 Jan 19; 13(1):108-12. PubMed ID: 21227401
    [Abstract] [Full Text] [Related]

  • 15. Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15.
    Buiting K, Saitoh S, Gross S, Dittrich B, Schwartz S, Nicholls RD, Horsthemke B.
    Nat Genet; 1995 Apr 19; 9(4):395-400. PubMed ID: 7795645
    [Abstract] [Full Text] [Related]

  • 16. Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E).
    Nakao M, Sutcliffe JS, Durtschi B, Mutirangura A, Ledbetter DH, Beaudet AL.
    Hum Mol Genet; 1994 Feb 19; 3(2):309-15. PubMed ID: 8004100
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosis.
    Kubota T, Aradhya S, Macha M, Smith AC, Surh LC, Satish J, Verp MS, Nee HL, Johnson A, Christan SL, Ledbetter DH.
    J Med Genet; 1996 Dec 20; 33(12):1011-4. PubMed ID: 9004133
    [Abstract] [Full Text] [Related]

  • 19. Methylation analysis by restriction endonuclease digestion and real-time PCR.
    Mao R, Chou LS.
    Clin Chem; 2010 Jul 20; 56(7):1050-2. PubMed ID: 20472820
    [No Abstract] [Full Text] [Related]

  • 20. A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene.
    Mutirangura A, Jayakumar A, Sutcliffe JS, Nakao M, McKinney MJ, Buiting K, Horsthemke B, Beaudet AL, Chinault AC, Ledbetter DH.
    Genomics; 1993 Dec 20; 18(3):546-52. PubMed ID: 8307564
    [Abstract] [Full Text] [Related]

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