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Journal Abstract Search

331 related items for PubMed ID: 9295088

  • 1. 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]

  • 2. 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 03; 9(4):395-400. PubMed ID: 7795645
    [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 03; 69(1):81-3. PubMed ID: 10655162
    [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. 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 May 03; 5(2):94-8. PubMed ID: 9195159
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. In and around SNRPN.
    Lalande M.
    Nat Genet; 1994 Sep 20; 8(1):5-7. PubMed ID: 7987391
    [No Abstract] [Full Text] [Related]

  • 8. 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 20; 8(1):52-8. PubMed ID: 7987392
    [Abstract] [Full Text] [Related]

  • 9. Competitive edge at the imprinted Prader-Willi/Angelman region?
    Tilghman SM, Caspary T, Ingram RS.
    Nat Genet; 1998 Mar 20; 18(3):206-8. PubMed ID: 9500535
    [No Abstract] [Full Text] [Related]

  • 10. Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint.
    Schulze A, Hansen C, Skakkebaek NE, Brøndum-Nielsen K, Ledbeter DH, Tommerup N.
    Nat Genet; 1996 Apr 20; 12(4):452-4. PubMed ID: 8630505
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene.
    Dittrich B, Buiting K, Korn B, Rickard S, Buxton J, Saitoh S, Nicholls RD, Poustka A, Winterpacht A, Zabel B, Horsthemke B.
    Nat Genet; 1996 Oct 17; 14(2):163-70. PubMed ID: 8841186
    [Abstract] [Full Text] [Related]

  • 13. 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 17; 6(3):387-95. PubMed ID: 9147641
    [Abstract] [Full Text] [Related]

  • 14. The SNRPN promoter is not required for genomic imprinting of the Prader-Willi/Angelman domain in mice.
    Bressler J, Tsai TF, Wu MY, Tsai SF, Ramirez MA, Armstrong D, Beaudet AL.
    Nat Genet; 2001 Jul 17; 28(3):232-40. PubMed ID: 11431693
    [Abstract] [Full Text] [Related]

  • 15. 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 17; 17(5):423-30. PubMed ID: 11317358
    [Abstract] [Full Text] [Related]

  • 16. Allele-specific replication of 15q11-q13 loci: a diagnostic test for detection of uniparental disomy.
    White LM, Rogan PK, Nicholls RD, Wu BL, Korf B, Knoll JH.
    Am J Hum Genet; 1996 Aug 17; 59(2):423-30. PubMed ID: 8755930
    [Abstract] [Full Text] [Related]

  • 17. 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 17; 52(6):1005-13. PubMed ID: 16574761
    [Abstract] [Full Text] [Related]

  • 18. High-resolution melting for accurate assessment of DNA methylation.
    Dahl C, Guldberg P.
    Clin Chem; 2007 Nov 17; 53(11):1877-8. PubMed ID: 17954495
    [No Abstract] [Full Text] [Related]

  • 19. A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes.
    Chotai KA, Payne SJ.
    J Med Genet; 1998 Jun 17; 35(6):472-5. PubMed ID: 9643288
    [Abstract] [Full Text] [Related]

  • 20. Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region.
    Ozçelik T, Leff S, Robinson W, Donlon T, Lalande M, Sanjines E, Schinzel A, Francke U.
    Nat Genet; 1992 Dec 17; 2(4):265-9. PubMed ID: 1303277
    [Abstract] [Full Text] [Related]

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