Prader-Willi Syndrome

“A rare genetic disease”

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References

  1. Robinson, W.P., Bottani, A., Yagang, X., Balakrishman, J., Binkert, F., Machler, M., Prader, A., and Schinzel, A.  1991.  Molecular, Cytogenetic and Clinical Investigations of Prader-Willi Syndrome Patients.  Am. J. Hum. Genet.  49: 1219-1234. 
  2. Bittel, D.C., Kibiryeva, N., and Butler, M.G.  2006.  Expression of 4 Genes Between Chromosome 15 Breakpoints 1 and 2 and Behavioral Outcomes in Prader-Willi Syndrome.  Pediatrics.  118: e1276-e1283.

  3. Wu, M-Y., Tsai, T-F., and Beaudet, A.  2006.  Deficiency of Rbbp1/Arid4a and Rbbp1l1/Arid4b alters epigenetic modifications and suppresses an imprinting defect in the PWS/AS domain.  Genes & Development.  20: 2859-2870. 

  4. Holsen, L.M., Zarcone, J.R., Brooks, W.M., Butler, M., Thompson, T.I., Ahluwalia, J.S., Nollen, N.L., and Savage, C.R.  2006.  Neural Mechanisms Underlying Hyperphagia in Prader-Willi Syndrome.  Obesity.  14(6): 1028-1037. 

  5. Bittel, D.C., Kibiryeva, N., Talebizadeh, Z., and Butler, M.G.  2003.  Microarray analysis of gene/transcript expression in Prader-Willi syndrome: deletion versus UPD.  J. Med. Genet.  40: 568-574. 

  6. Borelina, D., Engel, N., Esperante, S., Ferreiro, V., Ferrer, M., Torrado, M., Goldschmidt, E., Francipane, L., and Szijan, I.  2004.  Combined Cytogenetic and Molecular Analyses for the Diagnosis of Prader-Willi/Angelman Syndromes.  Journal of Biochemistry and Molecular Biology.  37(5): 522-526. 

  7. Shu, S-G., Chien, S., Wu, Y-C., Tsai, P-L., and Yih, J-K.  2007.  Anthropometric and Intellectual Evaluation of Individuals with Prader-Willi Syndrome.  Formosan Medical Association.  106(6): 509-512. 

  8. Yamada, K., Matsuzawa, H., Uchiyama, M., Kwee, I.L., and Nakada, T.  2006.  Brain Developmental Abnormalities in Prader-Willi Syndrome Detected by Diffusion Tensor Imaging.  Pediatrics.  118: e442-e448. 

  9. Perez-Tilve, D., Gonzalez-Matias, L., Alvarez-Crespo, M., Leiras, R., Tovar, S., Dieguez, C., and Mallo, F.  2007.  Exendin-4 Potently Decreases Ghrelin Levels in Fasting Rats.  Diabetes.  56: 143-150.

  10. Carrel, A.L., Myers, S.E., Whitman, B.Y., and Allen, D.B.  2007.  Benefits of Long-Term GH Therapy in Prader-Willi Syndrome: A 4-Year Study.  The Journal of Clinical Endocrinology & Metabolism.  87(4): 1581-1585.     

  11. Goytain, Angela, Hines, R.M., El-Husseini, A., and Quamme, G.A.  2007.  NIPA1 (SPG6), the Basis for Autosomal Dominant Form of Hereditary Spastic Paraplegia, Encodes a Functional Mg2+ Transporter.  Journal of Biological Chemistry.  282(11): 8060-8068. 

  12. Chai, J-H., Locke, D.P., Greally, J.M., Knoll, H.M., Ohta, T., Dunai, J., Yavor, A., Eichler, E.E., and Nicholls, R.D.  2003.  Identification of Four Highly Conserved Genes between Breakpoint Hotspots BP1 and BP2 of the Prader-Willi/Angelman Syndromes Deletion Region That Have Undergone Evolutionary Transposition Mediated by Flanking Duplicons.  Am. J. Hum. Genet. 73: 898-925.

  13. Schenck, Annette, Bardoni, B., Moro, A., Bagni, C., and Mandel, J-H.  2001.  The A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P.  PNAS.  98: 8844-8849.

  14. Kurita, Mitsumasa, Kuwajima, T., Nishimura, I., and Yoshikawa, K.  2006.  Necdin Downregulates Cdc2 Expression to Attenuate Neuronal Apoptosis.  The Journal of Neuroscience.  26(46): 12003-12013. 

  15. Kozlov, Serguei V., Bogenpohl J.W., Howell, M.P., Wevrick, R., Panda, S., Hogenesch, J.B., Muglia, L.J., Gelder, R.N.V., Herzog, E.D., and Steward, C.L.  2007.  The imprinted gene Magel2 regulates normal circadian output.  Nature Genetics.  39(10): 1266-1272. 

  16. Kishore, Shivendra and Stamm, S.  2006.  The snoRNA HBII-52 Regulates Alternative Splicing of the Serotonin Receptor 2C.  Science.  311: 230-232. 

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