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Journal Abstract Search

312 related items for PubMed ID: 16397868

  • 1. Mouse imprinting defect mutations that model Angelman syndrome.
    Wu MY, Chen KS, Bressler J, Hou A, Tsai TF, Beaudet AL.
    Genesis; 2006 Jan; 44(1):12-22. PubMed ID: 16397868
    [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; 9(4):395-400. PubMed ID: 7795645
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  • 3. 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; 28(3):232-40. PubMed ID: 11431693
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  • 4. 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; 19(1):25-31. PubMed ID: 9590284
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  • 5. 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
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  • 10. 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
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  • 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 20; 14(2):163-70. PubMed ID: 8841186
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  • 13. An unexpected function of the Prader-Willi syndrome imprinting center in maternal imprinting in mice.
    Wu MY, Jiang M, Zhai X, Beaudet AL, Wu RC.
    PLoS One; 2012 Oct 20; 7(4):e34348. PubMed ID: 22496793
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  • 14. Structure and function of the human chromosome 15 imprinting center.
    Horsthemke B.
    J Cell Physiol; 1997 Nov 20; 173(2):237-41. PubMed ID: 9365529
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  • 18. 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 20; 2(4):265-9. PubMed ID: 1303277
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  • 19. Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.
    Saitoh S, Buiting K, Rogan PK, Buxton JL, Driscoll DJ, Arnemann J, König R, Malcolm S, Horsthemke B, Nicholls RD.
    Proc Natl Acad Sci U S A; 1996 Jul 23; 93(15):7811-5. PubMed ID: 8755558
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  • 20. 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
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