Amos-Landgraf JM, Ji Y, Gottlieb W, Depinet T, Wandstrat AE, Cassidy SB, Driscoll DJ, Rogan PK, Schwartz S, Nicholls RD: Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints. Am. J. Hum. Genet. 1999, 65: 370-386. 10.1086/302510.
Christian SL, Fantes JA, Mewborn SK, Huang B, Ledbetter DH: Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13). Hum. Mol. Genet. 1999, 8: 1025-1037. 10.1093/hmg/8.6.1025.
Nicholls RD: The impact of genomic imprinting for neurobehavioral and developmental disorders. J. Clin. Invest. 2000, 105: 413-418.
Maddox LO, Menold MM, Bass MP, Rogala AR, Pericak-Vance MA, Vance JM, Gilbert JR: Autistic disorder and chromosome 15q11-q13: construction and analysis of a BAC/PAC contig. Genomics. 1999, 62: 325-331. 10.1006/geno.1999.6017.
Bass MP, Menold MM, Wolpert CM, Donnelly SL, Ravan SA, Hauser ER, Maddox LO, Vance JM, Abramson RK, Wright HH, Gilbert JR, Cuccaro ML, DeLong GR, Pericak-Vance MA: Genetic studies in autistic disorder and chromosome 15. Neurogenetics. 2000, 2: 219-226. 10.1007/s100480050067.
Matsuura T, Sutcliffe JS, Fang P, Galjaard R-J, Jiang Y-h, Benton CS, Rommens JM, Beaudet AL: De novo truncation mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nature Genet. 1997, 15: 74-77.
Kishino T, Lalande M, Wagstaff J: UBE3A/E6-AP mutations cause Angelman syndrome. Nature Genet. 1997, 15: 70-73.
MacDonald HR, Wevrick R: The necdin gene is deleted in Prader-Willi syndrome and is imprinted in human and mouse. Hum. Mol. Genet. 1997, 6: 1873-1878. 10.1093/hmg/6.11.1873.
Cavaille J, Buiting K, Kiefmann M, Lalande M, Brannan CI, Horsthemke B, Bachellerie JP, Brosius J, Huttenhofer A: From the cover: identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization. Proc. Natl. Acad. Sci. U S A. 2000, 97: 14311-14316. 10.1073/pnas.250426397.
de los Santos T, Schweizer J, Rees CA, Francke U: Small evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the Prader-Willi deletion region, which Is highly expressed in brain. Am. J. Hum. Genet. 2000, 67: 1067-1082. 10.1086/303106.
Boccaccio I, Glatt-Deeley H, Watrin F, Roeckel N, Lalande M, Muscatelli F: The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the Prader-Willi region. Hum. Mol. Genet. 1999, 8: 2497-2505. 10.1093/hmg/8.13.2497.
Lee S, Kozlov S, Hernandez L, Chamberlain SJ, Brannan CI, Stewart CL, Wevrick R: Expression and imprinting of MAGEL2 suggest a role in Prader-Willi syndrome and the homologous murine imprinting phenotype. Hum. Mol. Genet. 2000, 9: 1813-1819. 10.1093/hmg/9.12.1813.
Jay P, Rougeulle C, Massacrier A, Moncla A, Mattei MG, Malzac P, Roeckel N, Taviaux S, Lefranc JL, Cau P, Berta P, Lalande M, Muscatelli F: The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region. Nature Genet. 1997, 17: 357-361.
Sutcliffe JS, Han M, Christian SL, Ledbetter DH: Neuronally-expressed necdin gene: an imprinted candidate gene in Prader-Willi syndrome. Lancet. 1997, 350: 1520-1521.
Gerard M, Hernandez L, Wevrick R, Stewart C: Disruption of the mouse necdin gene results in early postnatal lethality: a model for neonatal distress in Prader-Willi syndrome. Nature Genet. 1999, 23: 199-202. 10.1038/13828.
Muscatelli F, Abrous DN, Massacrier A, Boccaccio I, Moal ML, Cau P, Cremer H: Disruption of the mouse necdin gene results in hypothalamic and behavioral alterations reminiscent of the human Prader-Willi syndrome. Hum. Mol. Genet. 2000, 9: 3101-3110. 10.1093/hmg/9.20.3101.
Blanco G, Irving NG, Brown SD, Miller CC, McLoughlin DM: Mapping of the human and murine X11-like genes (APBA2 and apba2), the murine Fe65 gene (Apbb1), and the human Fe65-like gene (APBB2): genes encoding phosphotyrosine-binding domain proteins that interact with the Alzheimer's disease amyloid precursor protein. Mamm. Genome. 1998, 9: 473-475. 10.1007/s003359900800.
Yoshikawa K: Cell cycle regulators in neural stem cells and postmitotic neurons. Neurosci. Res. 2000, 37: 1-14. 10.1016/S0168-0102(00)00101-2.
Masuda Y, Sasaki A, Shibuya H, Ueno N, Ikeda K, Watanabe K: Dlxin-1, a novel protein that binds Dlx5 and regulates its transcriptional function. J. Biol. Chem. 2000, 17: 5331-5338.
Lee S, Wevrick R: Identification of novel imprinted transcripts in the Prader-Willi/Angelman syndrome deletion region: further evidence for regional imprinting control. Am. J. Hum. Genet. 2000, 66: 848-858. 10.1086/302817.
Meguro M, Mitsuya K, Nomura N, Kohda M, Kashiwagi A, Nishigaki R, Yoshioka H, Nakao M, Oishi M, Oshimura M: Large-scale evaluation of imprinting status in the Prader-Willi syndrome region: an imprinted direct repeat cluster resembling small nucleolar RNA genes. Hum. Mol. Genet. 2001, 10: 383-394. 10.1093/hmg/10.4.383.
Bielinska B, Blaydes SM, Buiting K, Yang T, Krajewska-Walasek M, Horsthemke B, Brannan CI: De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch. Nat Genet. 2000, 25: 74-78. 10.1038/75629.
Chomez P, De Backer O, Bertrand M, De Plaen E, Boon T, Lucas S: An overview of the MAGE gene family with the identification of all human members of the family. Cancer Res. 2001, 61: 5544-5551.
Jordan BW, Dinev D, LeMellay V, Troppmair J, Gotz R, Wixler L, Sendtner M, Ludwig S, Rapp UR: NRAGE is an inducible IAP-interacting protein that augments cell death. J. Biol. Chem. 2001, 6: 1-6.
Salehi AH, Roux PP, Kubu CJ, Zeindler C, Bhakar A, Tannis LL, Verdi JM, Barker PA: NRAGE, a novel MAGE protein, interacts with the p75 neurotrophin receptor and facilitates nerve growth factor-dependent apoptosis. Neuron. 2000, 27: 279-288.
Wandstrat AE, Leana-Cox J, Jenkins L, Schwartz S: Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15. Am J Hum Genet. 1998, 62: 925-936. 10.1086/301777.
Wandstrat AE, Schwartz S: Isolation and molecular analysis of inv dup(15) and construction of a physical map of a common breakpoint in order to elucidate their mechanism of formation. Chromosoma. 2000, 109: 498-505.
Repetto GM, White LM, Bader PJ, Johnson D, Knoll JH: Interstitial duplications of chromosome region 15q11q13: clinical and molecular characterization. Am. J. Med. Genet. 1998, 79: 82-89. 10.1002/(SICI)1096-8628(19980901)79:2<82::AID-AJMG2>3.0.CO;2-P.