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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
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


  1. Increased serum resistin in adults with prader-willi syndrome is related to obesity and not to insulin resistance. Pagano, C., Marin, O., Calcagno, A., Schiappelli, P., Pilon, C., Milan, G., Bertelli, M., Fanin, E., Andrighetto, G., Federspil, G., Vettor, R. J. Clin. Endocrinol. Metab. (2005) [Pubmed]
  2. Clinical and molecular analysis of five inv dup(15) patients. Robinson, W.P., Binkert, F., Giné, R., Vazquez, C., Müller, W., Rosenkranz, W., Schinzel, A. Eur. J. Hum. Genet. (1993) [Pubmed]
  3. Water intoxication in a patient with the Prader-Willi syndrome treated with desmopressin for nocturnal enuresis. Robson, W.L., Shashi, V., Nagaraj, S., Nørgaard, J.P. J. Urol. (1997) [Pubmed]
  4. Behavioral phenotypes in four mental retardation syndromes: fetal alcohol syndrome, Prader-Willi syndrome, fragile X syndrome, and tuberosis sclerosis. Steinhausen, H.C., Von Gontard, A., Spohr, H.L., Hauffa, B.P., Eiholzer, U., Backes, M., Willms, J., Malin, Z. Am. J. Med. Genet. (2002) [Pubmed]
  5. Serum adiponectin levels in adults with Prader-Willi syndrome are independent of anthropometrical parameters and do not change with GH treatment. Hoybye, C., Bruun, J.M., Richelsen, B., Flyvbjerg, A., Frystyk, J. Eur. J. Endocrinol. (2004) [Pubmed]
  6. Alterations in the hypothalamic paraventricular nucleus and its oxytocin neurons (putative satiety cells) in Prader-Willi syndrome: a study of five cases. Swaab, D.F., Purba, J.S., Hofman, M.A. J. Clin. Endocrinol. Metab. (1995) [Pubmed]
  7. The number of hypothalamic hypocretin (orexin) neurons is not affected in Prader-Willi syndrome. Fronczek, R., Lammers, G.J., Balesar, R., Unmehopa, U.A., Swaab, D.F. J. Clin. Endocrinol. Metab. (2005) [Pubmed]
  8. Duplication or insertion in 15q11-13 associated with mental retardation-short stature and obesity-Prader-Willi or Cohen syndrome? Fuhrmann-Rieger, A., Köhler, A., Fuhrmann, W. Clin. Genet. (1984) [Pubmed]
  9. Genetic factors in human sleep disorders with special reference to Norrie disease, Prader-Willi syndrome and Moebius syndrome. Parkes, J.D. Journal of sleep research. (1999) [Pubmed]
  10. Is there a connection between autism, Prader-Willi syndrome, catatonia, and GABA? Dhossche, D.M., Song, Y., Liu, Y. Int. Rev. Neurobiol. (2005) [Pubmed]
  11. The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region. Jay, P., Rougeulle, C., Massacrier, A., Moncla, A., Mattei, M.G., Malzac, P., Roëckel, N., Taviaux, S., Lefranc, J.L., Cau, P., Berta, P., Lalande, M., Muscatelli, F. Nat. Genet. (1997) [Pubmed]
  12. Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint. Schulze, A., Hansen, C., Skakkebaek, N.E., Brøndum-Nielsen, K., Ledbeter, D.H., Tommerup, N. Nat. Genet. (1996) [Pubmed]
  13. A candidate mouse model for Prader-Willi syndrome which shows an absence of Snrpn expression. Cattanach, B.M., Barr, J.A., Evans, E.P., Burtenshaw, M., Beechey, C.V., Leff, S.E., Brannan, C.I., Copeland, N.G., Jenkins, N.A., Jones, J. Nat. Genet. (1992) [Pubmed]
  14. Elevated plasma ghrelin levels in Prader Willi syndrome. Cummings, D.E., Clement, K., Purnell, J.Q., Vaisse, C., Foster, K.E., Frayo, R.S., Schwartz, M.W., Basdevant, A., Weigle, D.S. Nat. Med. (2002) [Pubmed]
  15. Neuronally-expressed necdin gene: an imprinted candidate gene in Prader-Willi syndrome. Sutcliffe, J.S., Han, M., Christian, S.L., Ledbetter, D.H. Lancet (1997) [Pubmed]
  16. Parent-specific complementary patterns of histone H3 lysine 9 and H3 lysine 4 methylation at the Prader-Willi syndrome imprinting center. Xin, Z., Allis, C.D., Wagstaff, J. Am. J. Hum. Genet. (2001) [Pubmed]
  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]
  27. Cerebrospinal fluid neuropeptide Y in Prader-Willi syndrome. Akefeldt, A., Ekman, R., Månsson, J.E. Developmental medicine and child neurology. (2001) [Pubmed]
  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]
  29. Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome. Reed, M.L., Leff, S.E. Nat. Genet. (1994) [Pubmed]
  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]
  33. Diagnostic test for the Prader-Willi syndrome by SNRPN expression in blood. Wevrick, R., Francke, U. Lancet (1996) [Pubmed]
  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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