Publications - Prader-Willi Syndrome

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An imprinted, mammalian bicistronic transcript encodes two indepedent proteins. Gray, T., Saitoh, S. and Nicholls, R. Proc. Natl. Acad. Sci. 96: 5616-5621, 1999. [paper] 

Analysis of imprinted genes in subjects with Prader-Willi syndrome and chromosome 15 abnormalities. Muralidhar, B., Marney, A. and Butler, M.G. Genetics in Med. 1:141-145, 1999. [paper] 

Comparison of X chromosomes inactivation patterns in multiple tissues from human females. Bittel, D., Theodoro, M., Kibiryeva, N., Fischer, W., Talebizadeh, Z. and Butler, M. J. Med. Genet 45: 209-212, 2008. [paper] 

Evidence for the role of PWCR1/HBII-85 C/D box small necleolar RNAs in Prader-Willi syndrome. Gallagher, R.C., Pils, B., Albalwi, M., and Francke, U. Amer. J. Hum. Gen. 71: 669-678, 2002. [paper] 

Expression and imprinting of MAGEL2 suggest a role in Prader-Willi syndrome and the homologous murine imprinting phenotype. Lee, S., Kozlov, S., Hernandez, L., Chamberlain, S., Brannan, C., Stewart, C. and Wevrick, R. Human Molecular Genetics, 9: 1813-1819, 2000. [paper] 

Genomic analysis of the chromosome 15q11-q13 Prader-Willi region and characterization of transcripts for GoLGA8E and WHCD1L` from the proximal breakpoint region. Jiang, Y., Wauki, K., Liu, Q., Bressler, J., Pan, Y., Kashork, C, Li, H., Shaffer, L. and Beaudet, A. BMC Genomics 9:50, 2008. [paper] 

Ghrelin and peptide YY levels and gene expression in Prader-Willi syndrome. Butler, M., Talebizadeh, Z. and Bittel, D. ASHG, 2003. [abstract] 

Ghrelin, peptide YY and their receptors: gene expression in brain from subjects with and without Prader-Willi syndrome. Talebizadeh, Z., Kibiryeva, N. Bittel, D. and Butler, M. Intern. J. Molecular Med. 14: 1-5, 2004. [paper] 

Identification of novel imprinted transcripts in the Prader-Willi syndrome and Angelman syndrome deletion region: further evidence for regional imprinting control. Lee, Syann and Wevrick, R. Am. J. Hum. Genet., 66: 848-858, 2000. [paper] 

Methylation PCR analysis of Prader-Willi syndrome, Angelman syndrome, and control subjects. Muralidhar, B. and Butler, M.G. Amer. J. Med. Gen. 80:263-265, 1998. [paper] 

Small evoluntionarily 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. de los Santos, T., Schweizer, J., Rees, C.A.and Francke, U. Am. J. Hum. Genet. 67:1067-1082, 2000. [paper] 

The snoRNA HB11-52 regulates alternative splicing of the serotonin receptor 2C. Kishore, S. and Stamm, S. Science, 311: 230-232, 2006. [paper] 

Whole genome microarray analysis of gene expression in Prader-Willi syndrome. Bittle, D.C., Kibiryeva, Sell, S.M., Strong, T.V. and Butler, M. Am. J. Med. Genet. A. 143A: 430-442, 2007. [paper] 

X-Chromosome inactivation patterns in females with Prader-Willi Syndrome. Butler, M., Theodoro, M., Bittel, D., Kulpers, P., Discoll, D. and Talebizadeh, Z. Amer. J. Medical Genetics 143:469-475, 2007. [paper]