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MeSH Review

Prader-Willi Syndrome

 
 
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Disease relevance of Prader-Willi Syndrome

 

Psychiatry related information on Prader-Willi Syndrome

 

High impact information on Prader-Willi Syndrome

 

Chemical compound and disease context of Prader-Willi Syndrome

 

Biological context of Prader-Willi Syndrome

 

Anatomical context of Prader-Willi Syndrome

 

Gene context of Prader-Willi Syndrome

 

Analytical, diagnostic and therapeutic context of Prader-Willi Syndrome

References

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  17. FISH ordering of reference markers and of the gene for the alpha 5 subunit of the gamma-aminobutyric acid receptor (GABRA5) within the Angelman and Prader-Willi syndrome chromosomal regions. Knoll, J.H., Sinnett, D., Wagstaff, J., Glatt, K., Wilcox, A.S., Whiting, P.M., Wingrove, P., Sikela, J.M., Lalande, M. Hum. Mol. Genet. (1993) [Pubmed]
  18. Visceral adipose tissue and metabolic complications of obesity are reduced in Prader-Willi syndrome female adults: evidence for novel influences on body fat distribution. Goldstone, A.P., Thomas, E.L., Brynes, A.E., Bell, J.D., Frost, G., Saeed, N., Hajnal, J.V., Howard, J.K., Holland, A., Bloom, S.R. J. Clin. Endocrinol. Metab. (2001) [Pubmed]
  19. The daily profile of plasma melatonin in obese and Prader-Willi syndrome children. Tamarkin, L., Abastillas, P., Chen, H.C., McNemar, A., Sidbury, J.B. J. Clin. Endocrinol. Metab. (1982) [Pubmed]
  20. Circulating ghrelin levels are suppressed by meals and octreotide therapy in children with Prader-Willi syndrome. Haqq, A.M., Stadler, D.D., Rosenfeld, R.G., Pratt, K.L., Weigle, D.S., Frayo, R.S., LaFranchi, S.H., Cummings, D.E., Purnell, J.Q. J. Clin. Endocrinol. Metab. (2003) [Pubmed]
  21. Parent-of-origin specific histone acetylation and reactivation of a key imprinted gene locus in Prader-Willi syndrome. Saitoh, S., Wada, T. Am. J. Hum. Genet. (2000) [Pubmed]
  22. Prader-Willi syndrome is caused by disruption of the SNRPN gene. Kuslich, C.D., Kobori, J.A., Mohapatra, G., Gregorio-King, C., Donlon, T.A. Am. J. Hum. Genet. (1999) [Pubmed]
  23. Functional imprinting and epigenetic modification of the human SNRPN gene. Glenn, C.C., Porter, K.A., Jong, M.T., Nicholls, R.D., Driscoll, D.J. Hum. Mol. Genet. (1993) [Pubmed]
  24. Ectopic expression of necdin induces differentiation of mouse neuroblastoma cells. Kobayashi, M., Taniura, H., Yoshikawa, K. J. Biol. Chem. (2002) [Pubmed]
  25. CD36 expression and its relationship with obesity in blood cells from people with and without Prader-Willi syndrome. Webb, T., Whittington, J., Holland, A.J., Soni, S., Boer, H., Clarke, D., Horsthemke, B. Clin. Genet. (2006) [Pubmed]
  26. Effect of growth hormone treatment on insulin action in adipocytes from children with Prader-Willi syndrome. Kamel, A., Norgren, S., Lindgren, A.C., Luthman, H., Arner, P., Marcus, C. Eur. J. Endocrinol. (1998) [Pubmed]
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  28. Presence of the R1748X mutation in the NF1 gene in a Brazilian patient with ectropion uveae. Trovó-Marqui, A.B., Goloni-Bertollo, E.M., Teixeira, M.F., Tajara, E.H. Ophthalmic Res. (2004) [Pubmed]
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  30. Essential role for the Prader-Willi syndrome protein necdin in axonal outgrowth. Lee, S., Walker, C.L., Karten, B., Kuny, S.L., Tennese, A.A., O'Neill, M.A., Wevrick, R. Hum. Mol. Genet. (2005) [Pubmed]
  31. Imprinting of a RING zinc-finger encoding gene in the mouse chromosome region homologous to the Prader-Willi syndrome genetic region. Jong, M.T., Carey, A.H., Caldwell, K.A., Lau, M.H., Handel, M.A., Driscoll, D.J., Stewart, C.L., Rinchik, E.M., Nicholls, R.D. Hum. Mol. Genet. (1999) [Pubmed]
  32. Characterization and chromosomal mapping of a human Necdin pseudogene. Nakada, Y., Taniura, H., Uetsuki, T., Yoshikawa, K. Gene (2000) [Pubmed]
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  34. GABA A receptor abnormalities in Prader-Willi syndrome assessed with positron emission tomography and [11C]flumazenil. Lucignani, G., Panzacchi, A., Bosio, L., Moresco, R.M., Ravasi, L., Coppa, I., Chiumello, G., Frey, K., Koeppe, R., Fazio, F. Neuroimage (2004) [Pubmed]
  35. Serum ghrelin levels are inversely correlated with body mass index, age, and insulin concentrations in normal children and are markedly increased in Prader-Willi syndrome. Haqq, A.M., Farooqi, I.S., O'Rahilly, S., Stadler, D.D., Rosenfeld, R.G., Pratt, K.L., LaFranchi, S.H., Purnell, J.Q. J. Clin. Endocrinol. Metab. (2003) [Pubmed]
  36. Suppression of Acylated Ghrelin during Oral Glucose Tolerance Test Is Correlated with Whole-Body Insulin Sensitivity in Children with Prader-Willi Syndrome. Paik, K.H., Choe, Y.H., Park, W.H., Oh, Y.J., Kim, A.H., Chu, S.H., Kim, S.W., Kwon, E.K., Han, S.J., Shon, W.Y., Jin, D.K. J. Clin. Endocrinol. Metab. (2006) [Pubmed]
  37. Chromosomal localization of the human and mouse histidine decarboxylase genes by in situ hybridization. Exclusion of the HDC gene from the Prader-Willi syndrome region. Malzac, P., Mattei, M.G., Thibault, J., Bruneau, G. Hum. Genet. (1996) [Pubmed]
 
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