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Journal Abstract Search

508 related items for PubMed ID: 9401540

  • 21. Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis.
    Buiting K, Dittrich B, Gross S, Lich C, Färber C, Buchholz T, Smith E, Reis A, Bürger J, Nöthen MM, Barth-Witte U, Janssen B, Abeliovich D, Lerer I, van den Ouweland AM, Halley DJ, Schrander-Stumpel C, Smeets H, Meinecke P, Malcolm S, Gardner A, Lalande M, Nicholls RD, Friend K, Schulze A, Matthijs G, Kokkonen H, Hilbert P, Van Maldergem L, Glover G, Carbonell P, Willems P, Gillessen-Kaesbach G, Horsthemke B.
    Am J Hum Genet; 1998 Jul; 63(1):170-80. PubMed ID: 9634532
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  • 22. Clinical features and molecular genetic analysis of a boy with Prader-Willi syndrome caused by an imprinting defect.
    Schulze A, Hansen C, Baekgaard P, Blichfeldt S, Petersen MB, Tommerup N, Brøndum-Nielsen K.
    Acta Paediatr; 1997 Aug; 86(8):906-10. PubMed ID: 9307178
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  • 24. A nonimprinted Prader-Willi Syndrome (PWS)-region gene regulates a different chromosomal domain in trans but the imprinted pws loci do not alter genome-wide mRNA levels.
    Stefan M, Portis T, Longnecker R, Nicholls RD.
    Genomics; 2005 May; 85(5):630-40. PubMed ID: 15820315
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  • 26. 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
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  • 27. Prader-Willi syndrome and atypical submicroscopic 15q11-q13 deletions with or without imprinting defects.
    Hassan M, Butler MG.
    Eur J Med Genet; 2016 Nov; 59(11):584-589. PubMed ID: 27659713
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  • 28. Microarray analysis of gene/transcript expression in Prader-Willi syndrome: deletion versus UPD.
    Bittel DC, Kibiryeva N, Talebizadeh Z, Butler MG.
    J Med Genet; 2003 Aug; 40(8):568-74. PubMed ID: 12920063
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  • 30. Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect.
    Buiting K, Gross S, Lich C, Gillessen-Kaesbach G, el-Maarri O, Horsthemke B.
    Am J Hum Genet; 2003 Mar; 72(3):571-7. PubMed ID: 12545427
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  • 32. Mechanisms of imprinting of the Prader-Willi/Angelman region.
    Horsthemke B, Wagstaff J.
    Am J Med Genet A; 2008 Aug 15; 146A(16):2041-52. PubMed ID: 18627066
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  • 33. Unique maternal deletion of 15q in a patient with some symptoms of Prader-Willi syndrome.
    Ninomiya S, Yokoyama Y, Kawakami M, Une T, Maruyama H, Morishima T.
    Pediatr Int; 2005 Oct 15; 47(5):541-5. PubMed ID: 16190961
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  • 36. Prader-Willi syndrome: clinical genetics, cytogenetics and molecular biology.
    Bittel DC, Butler MG.
    Expert Rev Mol Med; 2005 Jul 25; 7(14):1-20. PubMed ID: 16038620
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  • 37. Analysis of imprinted genes in subjects with Prader-Willi syndrome and chromosome 15 abnormalities.
    Muralidhar B, Marney A, Butler MG.
    Genet Med; 1999 Jul 25; 1(4):141-5. PubMed ID: 11258349
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  • 39. Comparative molecular approaches in Prader-Willi syndrome diagnosis.
    Botezatu A, Puiu M, Cucu N, Diaconu CC, Badiu C, Arsene C, Iancu IV, Plesa A, Anton G.
    Gene; 2016 Jan 10; 575(2 Pt 1):353-8. PubMed ID: 26335514
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  • 40. The impact of imprinting: Prader-Willi syndrome resulting from chromosome translocation, recombination, and nondisjunction.
    Toth-Fejel S, Olson S, Gunter K, Quan F, Wolford J, Popovich BW, Magenis RE.
    Am J Hum Genet; 1996 May 10; 58(5):1008-16. PubMed ID: 8651261
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