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172 related items for PubMed ID: 8111365

  • 1. Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene.
    Buiting K, Dittrich B, Gross S, Greger V, Lalande M, Robinson W, Mutirangura A, Ledbetter D, Horsthemke B.
    Hum Mol Genet; 1993 Dec; 2(12):1991-4. PubMed ID: 8111365
    [Abstract] [Full Text] [Related]

  • 2. 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; 18(3):546-52. PubMed ID: 8307564
    [Abstract] [Full Text] [Related]

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

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

  • 5. 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; 6(3):387-95. PubMed ID: 9147641
    [Abstract] [Full Text] [Related]

  • 6. Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and its diagnostic implications.
    Buiting K, Dittrich B, Robinson WP, Guitart M, Abeliovich D, Lerer I, Horsthemke B.
    Hum Mol Genet; 1994 Jun; 3(6):893-5. PubMed ID: 7951232
    [Abstract] [Full Text] [Related]

  • 7. 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; 9(4):395-400. PubMed ID: 7795645
    [Abstract] [Full Text] [Related]

  • 8. 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; 2(4):259-64. PubMed ID: 1303276
    [Abstract] [Full Text] [Related]

  • 9. 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; 12(4):452-4. PubMed ID: 8630505
    [Abstract] [Full Text] [Related]

  • 10. Prader-Willi syndrome is caused by disruption of the SNRPN gene.
    Kuslich CD, Kobori JA, Mohapatra G, Gregorio-King C, Donlon TA.
    Am J Hum Genet; 1999 Jan; 64(1):70-6. PubMed ID: 9915945
    [Abstract] [Full Text] [Related]

  • 11. 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; 14(2):163-70. PubMed ID: 8841186
    [Abstract] [Full Text] [Related]

  • 12. Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome.
    Reed ML, Leff SE.
    Nat Genet; 1994 Feb; 6(2):163-7. PubMed ID: 7512861
    [Abstract] [Full Text] [Related]

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

  • 14. Functional imprinting and epigenetic modification of the human SNRPN gene.
    Glenn CC, Porter KA, Jong MT, Nicholls RD, Driscoll DJ.
    Hum Mol Genet; 1993 Dec; 2(12):2001-5. PubMed ID: 8111367
    [Abstract] [Full Text] [Related]

  • 15. Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene.
    Glenn CC, Saitoh S, Jong MT, Filbrandt MM, Surti U, Driscoll DJ, Nicholls RD.
    Am J Hum Genet; 1996 Feb; 58(2):335-46. PubMed ID: 8571960
    [Abstract] [Full Text] [Related]

  • 16. Structure and function correlations at the imprinted mouse Snrpn locus.
    Gabriel JM, Gray TA, Stubbs L, Saitoh S, Ohta T, Nicholls RD.
    Mamm Genome; 1998 Oct; 9(10):788-93. PubMed ID: 9745031
    [Abstract] [Full Text] [Related]

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

  • 18. 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]

  • 19. Identification of a novel paternally expressed gene in the Prader-Willi syndrome region.
    Wevrick R, Kerns JA, Francke U.
    Hum Mol Genet; 1994 Oct 24; 3(10):1877-82. PubMed ID: 7849716
    [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 24; 53(11):1960-2. PubMed ID: 17890436
    [Abstract] [Full Text] [Related]

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