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Journal Abstract Search

586 related items for PubMed ID: 7795645

  • 1. 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]

  • 2. 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]

  • 3. 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]

  • 4. Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15.
    Runte M, Färber C, Lich C, Zeschnigk M, Buchholz T, Smith A, Van Maldergem L, Bürger J, Muscatelli F, Gillessen-Kaesbach G, Horsthemke B, Buiting K.
    Eur J Hum Genet; 2001 Jul 20; 9(7):519-26. PubMed ID: 11464243
    [Abstract] [Full Text] [Related]

  • 5. Mouse imprinting defect mutations that model Angelman syndrome.
    Wu MY, Chen KS, Bressler J, Hou A, Tsai TF, Beaudet AL.
    Genesis; 2006 Jan 20; 44(1):12-22. PubMed ID: 16397868
    [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 20; 14(2):163-70. PubMed ID: 8841186
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. 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]

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  • 10. 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]

  • 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. 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]

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

  • 14. The imprinting box of the Prader-Willi/Angelman syndrome domain.
    Shemer R, Hershko AY, Perk J, Mostoslavsky R, Tsuberi B, Cedar H, Buiting K, Razin A.
    Nat Genet; 2000 Dec 17; 26(4):440-3. PubMed ID: 11101841
    [Abstract] [Full Text] [Related]

  • 15. 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 17; 5(2):94-8. PubMed ID: 9195159
    [Abstract] [Full Text] [Related]

  • 16. A mouse model for Prader-Willi syndrome imprinting-centre mutations.
    Yang T, Adamson TE, Resnick JL, Leff S, Wevrick R, Francke U, Jenkins NA, Copeland NG, Brannan CI.
    Nat Genet; 1998 May 17; 19(1):25-31. PubMed ID: 9590284
    [Abstract] [Full Text] [Related]

  • 17. A candidate mouse model for Prader-Willi syndrome which shows an absence of Snrpn expression.
    Cattanach BM, Barr JA, Evans EP, Burtenshaw M, Beechey CV, Leff SE, Brannan CI, Copeland NG, Jenkins NA, Jones J.
    Nat Genet; 1992 Dec 17; 2(4):270-4. PubMed ID: 1303278
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  • 19. Genomic imprinting: potential function and mechanisms revealed by the Prader-Willi and Angelman syndromes.
    Glenn CC, Driscoll DJ, Yang TP, Nicholls RD.
    Mol Hum Reprod; 1997 Apr 17; 3(4):321-32. PubMed ID: 9237260
    [Abstract] [Full Text] [Related]

  • 20. 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 17; 2(4):259-64. PubMed ID: 1303276
    [Abstract] [Full Text] [Related]

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