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6. Investigation of deletions at 7q11.23 in 44 patients referred for Williams-Beuren syndrome, using FISH and four DNA polymorphisms. Brøndum-Nielsen K, Beck B, Gyftodimou J, Hørlyk H, Liljenberg U, Petersen MB, Pedersen W, Petersen MB, Sand A, Skovby F, Stafanger G, Zetterqvist P, Tommerup N. Hum Genet; 1997 Jan; 99(1):56-61. PubMed ID: 9003495 [Abstract] [Full Text] [Related]
9. Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes. Meng X, Lu X, Li Z, Green ED, Massa H, Trask BJ, Morris CA, Keating MT. Hum Genet; 1998 Nov; 103(5):590-9. PubMed ID: 9860302 [Abstract] [Full Text] [Related]
10. Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patients. Ferrero GB, Biamino E, Sorasio L, Banaudi E, Peruzzi L, Forzano S, di Cantogno LV, Silengo MC. Eur J Med Genet; 2007 Nov; 50(5):327-37. PubMed ID: 17625998 [Abstract] [Full Text] [Related]
12. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Ewart AK, Morris CA, Atkinson D, Jin W, Sternes K, Spallone P, Stock AD, Leppert M, Keating MT. Nat Genet; 1993 Sep; 5(1):11-6. PubMed ID: 7693128 [Abstract] [Full Text] [Related]
14. GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region. Morris CA, Mervis CB, Hobart HH, Gregg RG, Bertrand J, Ensing GJ, Sommer A, Moore CA, Hopkin RJ, Spallone PA, Keating MT, Osborne L, Kimberley KW, Stock AD. Am J Med Genet A; 2003 Nov 15; 123A(1):45-59. PubMed ID: 14556246 [Abstract] [Full Text] [Related]
16. [Clinical characterization, molecular and FISH studies in 80 patients with clinical suspicion of Williams-Beuren syndrome]. Milà M, Carrió A, Sánchez A, Gómez D, Jiménez D, Estivill X, Ballesta F. Med Clin (Barc); 1999 Jun 19; 113(2):46-9. PubMed ID: 10425618 [Abstract] [Full Text] [Related]
18. Williams syndrome and the elastin gene in Thai patients. Ruangdaraganon N, Tocharoentanaphol C, Kotchabhakdi N, Khowsathit P. J Med Assoc Thai; 1999 Nov 19; 82 Suppl 1():S174-8. PubMed ID: 10730539 [Abstract] [Full Text] [Related]
19. Microdeletion oe chromosomal region 7Q11.23 in Williams syndrome. Hou JW, Wang JK, Wang TR. J Formos Med Assoc; 1997 Feb 19; 96(2):137-40. PubMed ID: 9071842 [Abstract] [Full Text] [Related]