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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. Saitoh S, et al. Among authors: horsthemke b. Am J Med Genet. 1997 Jan 20;68(2):195-206. Am J Med Genet. 1997. PMID: 9028458
Imprinting in Prader-Willi and Angelman syndromes.
Nicholls RD, Saitoh S, Horsthemke B. Nicholls RD, et al. Among authors: horsthemke b. Trends Genet. 1998 May;14(5):194-200. doi: 10.1016/s0168-9525(98)01432-2. Trends Genet. 1998. PMID: 9613204 Review.
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: horsthemke b. Am J Hum Genet. 1998 Jul;63(1):170-80. doi: 10.1086/301935. Am J Hum Genet. 1998. PMID: 9634532 Free PMC article.
The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities.
Ji Y, Walkowicz MJ, Buiting K, Johnson DK, Tarvin RE, Rinchik EM, Horsthemke B, Stubbs L, Nicholls RD. Ji Y, et al. Among authors: horsthemke b. Hum Mol Genet. 1999 Mar;8(3):533-42. doi: 10.1093/hmg/8.3.533. Hum Mol Genet. 1999. PMID: 9949213
292 results