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Journal Abstract Search

182 related items for PubMed ID: 7987391

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

  • 2. 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]

  • 3. 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]

  • 4. 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]

  • 5. 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 17; 8(1):52-8. PubMed ID: 7987392
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. Competitive edge at the imprinted Prader-Willi/Angelman region?
    Tilghman SM, Caspary T, Ingram RS.
    Nat Genet; 1998 Mar 17; 18(3):206-8. PubMed ID: 9500535
    [No Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. 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]

  • 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. 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 Apr 20; 5(2):94-8. PubMed ID: 9195159
    [Abstract] [Full Text] [Related]

  • 12. 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
    [Abstract] [Full Text] [Related]

  • 13. [Prader-Willi syndrome].
    Matsuura T.
    Ryoikibetsu Shokogun Shirizu; 2000 Apr 24; (30 Pt 5):33-4. PubMed ID: 11057133
    [No 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 24; 16(1):16-7. PubMed ID: 9140389
    [No Abstract] [Full Text] [Related]

  • 15. 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 24; 2(4):265-9. PubMed ID: 1303277
    [Abstract] [Full Text] [Related]

  • 16. 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 24; 69(1):81-3. PubMed ID: 10655162
    [Abstract] [Full Text] [Related]

  • 17. Mouse imprinting defect mutations that model Angelman syndrome.
    Wu MY, Chen KS, Bressler J, Hou A, Tsai TF, Beaudet AL.
    Genesis; 2006 Jan 24; 44(1):12-22. PubMed ID: 16397868
    [Abstract] [Full Text] [Related]

  • 18. Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader-Willi syndrome region.
    Leff SE, Brannan CI, Reed ML, Ozçelik T, Francke U, Copeland NG, Jenkins NA.
    Nat Genet; 1992 Dec 24; 2(4):259-64. PubMed ID: 1303276
    [Abstract] [Full Text] [Related]

  • 19. 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 24; 3(2):309-15. PubMed ID: 8004100
    [Abstract] [Full Text] [Related]

  • 20. 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 24; 6(3):387-95. PubMed ID: 9147641
    [Abstract] [Full Text] [Related]

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