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997 results

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Page 1
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. Buiting K, et al. Among authors: willems p. Am J Hum Genet. 1998 Jul;63(1):170-80. doi: 10.1086/301935. Am J Hum Genet. 1998. PMID: 9634532 Free PMC article.
Angelman syndrome in an inbred family.
Beuten J, Hennekam RC, Van Roy B, Mangelschots K, Sutcliffe JS, Halley DJ, Hennekam FA, Beaudet AL, Willems PJ. Beuten J, et al. Among authors: willems pj. Hum Genet. 1996 Mar;97(3):294-8. doi: 10.1007/BF02185757. Hum Genet. 1996. PMID: 8786067 Free article.
Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11.
Bartsch O, Wuyts W, Van Hul W, Hecht JT, Meinecke P, Hogue D, Werner W, Zabel B, Hinkel GK, Powell CM, Shaffer LG, Willems PJ. Bartsch O, et al. Among authors: willems pj. Am J Hum Genet. 1996 Apr;58(4):734-42. Am J Hum Genet. 1996. PMID: 8644736 Free PMC article.
The spectrum of mutations in UBE3A causing Angelman syndrome.
Fang P, Lev-Lehman E, Tsai TF, Matsuura T, Benton CS, Sutcliffe JS, Christian SL, Kubota T, Halley DJ, Meijers-Heijboer H, Langlois S, Graham JM Jr, Beuten J, Willems PJ, Ledbetter DH, Beaudet AL. Fang P, et al. Among authors: willems pj. Hum Mol Genet. 1999 Jan;8(1):129-35. doi: 10.1093/hmg/8.1.129. Hum Mol Genet. 1999. PMID: 9887341
Positional cloning of a gene involved in hereditary multiple exostoses.
Wuyts W, Van Hul W, Wauters J, Nemtsova M, Reyniers E, Van Hul EV, De Boulle K, de Vries BB, Hendrickx J, Herrygers I, Bossuyt P, Balemans W, Fransen E, Vits L, Coucke P, Nowak NJ, Shows TB, Mallet L, van den Ouweland AM, McGaughran J, Halley DJ, Willems PJ. Wuyts W, et al. Among authors: willems pj. Hum Mol Genet. 1996 Oct;5(10):1547-57. doi: 10.1093/hmg/5.10.1547. Hum Mol Genet. 1996. PMID: 8894688
997 results