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MeSH Review

Williams Syndrome

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Disease relevance of Williams Syndrome


Psychiatry related information on Williams Syndrome


High impact information on Williams Syndrome


Chemical compound and disease context of Williams Syndrome


Biological context of Williams Syndrome


Anatomical context of Williams Syndrome


Gene context of Williams Syndrome


Analytical, diagnostic and therapeutic context of Williams Syndrome


  1. Mapping brain maturation. Toga, A.W., Thompson, P.M., Sowell, E.R. Trends Neurosci. (2006) [Pubmed]
  2. Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension. Del Campo, M., Antonell, A., Magano, L.F., Muñoz, F.J., Flores, R., Bayés, M., Pérez Jurado, L.A. Am. J. Hum. Genet. (2006) [Pubmed]
  3. Molecular dissection of DNA sequences and factors involved in slow muscle-specific transcription. Calvo, S., Vullhorst, D., Venepally, P., Cheng, J., Karavanova, I., Buonanno, A. Mol. Cell. Biol. (2001) [Pubmed]
  4. Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients. Joyce, C.A., Zorich, B., Pike, S.J., Barber, J.C., Dennis, N.R. J. Med. Genet. (1996) [Pubmed]
  5. Spatial representation and attention in toddlers with Williams syndrome and Down syndrome. Brown, J.H., Johnson, M.H., Paterson, S.J., Gilmore, R., Longhi, E., Karmiloff-Smith, A. Neuropsychologia. (2003) [Pubmed]
  6. Periodic limb movement in sleep in children with Williams syndrome. Arens, R., Wright, B., Elliott, J., Zhao, H., Wang, P.P., Brown, L.W., Namey, T., Kaplan, P. J. Pediatr. (1998) [Pubmed]
  7. Linguistic abilities in children with Williams-Beuren syndrome. Gosch, A., Städing, G., Pankau, R. Am. J. Med. Genet. (1994) [Pubmed]
  8. Serum NGF levels in children and adolescents with either Williams syndrome or Down syndrome. Calamandrei, G., Alleva, E., Cirulli, F., Queyras, A., Volterra, V., Capirci, O., Vicari, S., Giannotti, A., Turrini, P., Aloe, L. Developmental medicine and child neurology. (2000) [Pubmed]
  9. Age-associated memory changes in adults with williams syndrome. Devenny, D.A., Krinsky-McHale, S.J., Kittler, P.M., Flory, M., Jenkins, E., Brown, W.T. Developmental neuropsychology. (2004) [Pubmed]
  10. Self concept in people with Williams syndrome and Prader-Willi syndrome. Plesa-Skwerer, D., Sullivan, K., Joffre, K., Tager-Flusberg, H. Research in developmental disabilities. (2004) [Pubmed]
  11. The chromatin-remodeling complex WINAC targets a nuclear receptor to promoters and is impaired in Williams syndrome. Kitagawa, H., Fujiki, R., Yoshimura, K., Mezaki, Y., Uematsu, Y., Matsui, D., Ogawa, S., Unno, K., Okubo, M., Tokita, A., Nakagawa, T., Ito, T., Ishimi, Y., Nagasawa, H., Matsumoto, T., Yanagisawa, J., Kato, S. Cell (2003) [Pubmed]
  12. Targeted mutation of Cyln2 in the Williams syndrome critical region links CLIP-115 haploinsufficiency to neurodevelopmental abnormalities in mice. Hoogenraad, C.C., Koekkoek, B., Akhmanova, A., Krugers, H., Dortland, B., Miedema, M., van Alphen, A., Kistler, W.M., Jaegle, M., Koutsourakis, M., Van Camp, N., Verhoye, M., van der Linden, A., Kaverina, I., Grosveld, F., De Zeeuw, C.I., Galjart, N. Nat. Genet. (2002) [Pubmed]
  13. A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome. Osborne, L.R., Li, M., Pober, B., Chitayat, D., Bodurtha, J., Mandel, A., Costa, T., Grebe, T., Cox, S., Tsui, L.C., Scherer, S.W. Nat. Genet. (2001) [Pubmed]
  14. LIM-kinase deleted in Williams syndrome. Tassabehji, M., Metcalfe, K., Fergusson, W.D., Carette, M.J., Dore, J.K., Donnai, D., Read, A.P., Pröschel, C., Gutowski, N.J., Mao, X., Sheer, D. Nat. Genet. (1996) [Pubmed]
  15. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Ewart, A.K., Morris, C.A., Atkinson, D., Jin, W., Sternes, K., Spallone, P., Stock, A.D., Leppert, M., Keating, M.T. Nat. Genet. (1993) [Pubmed]
  16. Abnormal regulation of circulating 25-hydroxyvitamin D in the Williams syndrome. Taylor, A.B., Stern, P.H., Bell, N.H. N. Engl. J. Med. (1982) [Pubmed]
  17. Reading the windows to the soul: evidence of domain-specific sparing in Williams syndrome. Tager-Flusberg, H., Boshart, J., Baron-Cohen, S. Journal of cognitive neuroscience. (1998) [Pubmed]
  18. Phosphoserine phosphatase deficiency in a patient with Williams syndrome. Jaeken, J., Detheux, M., Fryns, J.P., Collet, J.F., Alliet, P., Van Schaftingen, E. J. Med. Genet. (1997) [Pubmed]
  19. Calcium metabolism in Williams-Beuren syndrome. Kruse, K., Pankau, R., Gosch, A., Wohlfahrt, K. J. Pediatr. (1992) [Pubmed]
  20. Thyroid hemiagenesis and elevated thyrotropin levels in a child with Williams syndrome. Cammareri, V., Vignati, G., Nocera, G., Beck-Peccoz, P., Persani, L. Am. J. Med. Genet. (1999) [Pubmed]
  21. Neural basis of genetically determined visuospatial construction deficit in Williams syndrome. Meyer-Lindenberg, A., Kohn, P., Mervis, C.B., Kippenhan, J.S., Olsen, R.K., Morris, C.A., Berman, K.F. Neuron (2004) [Pubmed]
  22. Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome. Nickerson, E., Greenberg, F., Keating, M.T., McCaskill, C., Shaffer, L.G. Am. J. Hum. Genet. (1995) [Pubmed]
  23. LIMK1 and CLIP-115: linking cytoskeletal defects to Williams syndrome. Hoogenraad, C.C., Akhmanova, A., Galjart, N., De Zeeuw, C.I. Bioessays (2004) [Pubmed]
  24. Hippocampal and visuospatial learning defects in mice with a deletion of frizzled 9, a gene in the Williams syndrome deletion interval. Zhao, C., Avilés, C., Abel, R.A., Almli, C.R., McQuillen, P., Pleasure, S.J. Development (2005) [Pubmed]
  25. Genomic organization of the genes Gtf2ird1, Gtf2i, and Ncf1 at the mouse chromosome 5 region syntenic to the human chromosome 7q11.23 Williams syndrome critical region. Bayarsaihan, D., Dunai, J., Greally, J.M., Kawasaki, K., Sumiyama, K., Enkhmandakh, B., Shimizu, N., Ruddle, F.H. Genomics (2002) [Pubmed]
  26. Corpus callosum morphology of Williams syndrome: relation to genetics and behavior. Schmitt, J.E., Eliez, S., Warsofsky, I.S., Bellugi, U., Reiss, A.L. Developmental medicine and child neurology. (2001) [Pubmed]
  27. Vocal cord abnormalities in Williams syndrome: a further manifestation of elastin deficiency. Vaux, K.K., Wojtczak, H., Benirschke, K., Jones, K.L. Am. J. Med. Genet. A (2003) [Pubmed]
  28. Evidence for superior parietal impairment in Williams syndrome. Eckert, M.A., Hu, D., Eliez, S., Bellugi, U., Galaburda, A., Korenberg, J., Mills, D., Reiss, A.L. Neurology (2005) [Pubmed]
  29. A new and rare form of Williams' syndrome. Akçoral, A., Ozaksoy, D., Oran, B., Narin, N., Cevik, N.T. Acta paediatrica Japonica; Overseas edition. (1993) [Pubmed]
  30. ACF consists of two subunits, Acf1 and ISWI, that function cooperatively in the ATP-dependent catalysis of chromatin assembly. Ito, T., Levenstein, M.E., Fyodorov, D.V., Kutach, A.K., Kobayashi, R., Kadonaga, J.T. Genes Dev. (1999) [Pubmed]
  31. WSTF-ISWI chromatin remodeling complex targets heterochromatic replication foci. Bozhenok, L., Wade, P.A., Varga-Weisz, P. EMBO J. (2002) [Pubmed]
  32. GTF2IRD2 is located in the Williams-Beuren syndrome critical region 7q11.23 and encodes a protein with two TFII-I-like helix-loop-helix repeats. Makeyev, A.V., Erdenechimeg, L., Mungunsukh, O., Roth, J.J., Enkhmandakh, B., Ruddle, F.H., Bayarsaihan, D. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
  33. Lim kinase regulates the development of olfactory and neuromuscular synapses. Ang, L.H., Chen, W., Yao, Y., Ozawa, R., Tao, E., Yonekura, J., Uemura, T., Keshishian, H., Hing, H. Dev. Biol. (2006) [Pubmed]
  34. A mouse single-copy gene, Gtf2i, the homolog of human GTF2I, that is duplicated in the Williams-Beuren syndrome deletion region. Wang, Y.K., Pérez-Jurado, L.A., Francke, U. Genomics (1998) [Pubmed]
  35. Detection of hemizygosity at the elastin locus by FISH analysis as a diagnostic test in both classical and atypical cases of Williams syndrome. Borg, I., Delhanty, J.D., Baraitser, M. J. Med. Genet. (1995) [Pubmed]
  36. Anesthesiologic problems in Williams syndrome: the CACNL2A locus is not involved. Mammi, I., Iles, D.E., Smeets, D., Clementi, M., Tenconi, R. Hum. Genet. (1996) [Pubmed]
  37. Cloning, expression, and chromosomal mapping of the human 14-3-3gamma gene (YWHAG) to 7q11.23. Horie, M., Suzuki, M., Takahashi, E., Tanigami, A. Genomics (1999) [Pubmed]
  38. Comparative genomic sequence analysis of the Williams syndrome region (LIMK1-RFC2) of human chromosome 7q11.23. Martindale, D.W., Wilson, M.D., Wang, D., Burke, R.D., Chen, X., Duronio, V., Koop, B.F. Mamm. Genome (2000) [Pubmed]
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