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Forscher und Fachliteratur zu WBS
Mehrere Arbeitsgruppen haben eine Homepage, oft mit Information zum Syndrom
Susanne van Minnen, Institut für Heil- und Sonderpädagogik, Gießen
Ursula Bellugi, Laboratory for Cognitive Neuroscience, Salk institute, USA
Harald Clahsen, (WS Lit) Language & Linguistics, University of Essex.
Dian Donnai, School of Medicine, Manchester UK
Uta Francke, Stanford University, USA
Angela Gosch, Sozialwesen, Fachhochschule München
Colleen A.Morris, (WS), M. D.,University of Nevada School of Medicine, Las Vegas, Nevada, USA
Karmiloff-Smith (retired) , Neurocognitive Development Unit, UK
Lucy R. Osborne, Ph. D. Department of Medicine, University of Toronto , CA
Luis A. Perez Jurado, Unidad de Genetica, Universidad Autonoma de Madrid, ES
Julia Siegmüller, LINFOR, Logopädisches Institut für Forschung Rostock
Einige Arbeiten zu WBS sind frei zugänglich (chronologisch sortiert)
2005 S. AMENTA, C. SOFOCLEOUS, A. KOLIALEXI, L. THOMAIDIS, S. GIOUROUKOS, E. KARAVITAKIS, A. MAVROU, S. KITSIOU, E. KANAVAKIS, and H. FRYSSIRA, 2005, Clinical Manifestations and Molecular Investigation of 50 Patients with Williams Syndrome in the Greek PopulationPediatr. Res., June 1, 2005; 57 (6): 789–795. [more...]
Antonell et al., 2005, Evolutionary mechanisms shaping the genomicstructure of the Williams-Beuren syndrome chromosomal region at human7q11.23, Genome Res.,15: 1179 [more...]
S. Bunda, N. Kaviani, and A. Hinek Fluctuations of Intracellular Iron Modulate Elastin Production J. Biol. Chem., January 21, 2005; 280(3): 2341–2351. [more...]
2004 Cagle et al., 2004, Severe Infantile Hypercalcemia Associated With Williams Syndrome Successfully Treated PEDIATRICS 114 (4): 1091–1095 [more...]
2003 R Heller, A Rauch, S Lüttgen, B Schröder, and A Winterpacht, 2003, Partialdeletion of the critical 1.5 Mb interval in Williams-Beuren syndrome J. Med. Genet., Aug 2003; 40: 99. [more...]
Karmiloff-Smith A, Grant J, Ewing S, Carette MJ, Metcalfe K, Donnai D, Read AP, Tassabehji M. Using case study comparisons toexplore genotype-phenotype correlations in Williams-Beuren syndrome. J Med Genet 2003; 40: 136–40. [more...]
Scherer, S. W., Cheung, J., MacDonald, J. R., Osborne, L. R., Nakabayashi, K., Herbrick, J. A., Carson, A. R., Parker-Katiraee, L., Skaug, J., Khaja, R., et al. 2003. Humanchromosome 7: DNA sequence and biology. Science 300: 767–772. [more...]2001 Aldo Giannotti, Giovanni Tiberio, Massimo Castro, FabioVirgilii, Franco Colistro, Francesca Ferretti, Maria Cristina Digilio, Manuela Gambarara, Bruno Dallapiccola, 2001, Coeliac disease in Williams syndrome, J Med Genet 2001; 38: 767–768. [more...]
American Academy of Pediatrics Committee on Genetics 2001 Healthcaresupervision for children with Williams syndrome. Pediatrics 107:1192–1204 [more...], erratum
2000 Pezzi, N., Prieto, I., Kremer, L., Pérez Jurado, L. A., Valero, C., Del Mazo, J., Martinez, A. C., and Barbero, J. L. 2000. STAG3, a novelgene encoding a protein involved in meiotic chromosome pairing andlocation of STAG3-related genes flanking the Williams-Beuren syndromedeletion. FASEB J. 14: 581–592. [more...]
1999 Botta A, NovelliG, Mari A, Novelli A, Sabani M, Korenberg J, Osborne LR, Digilio MC, Giannotti A, Dallapiccola B. Detection of anatypical 7q11.23 deletion in Williams syndrome patients which does notinclude the STX1A and FZD3 genes. J Med Genet 1999; 36: 478–80. [more...]
DeSilva, U., Massa, H., Trask, B. J., and Green, E. D. 1999. Comparativemapping of the region of human chromosome 7 deleted in Williamssyndrome. Genome Res. 9: 428–436. [more...]
Uta Francke, 1999, Williams–Beuren-Syndrome: genes and mechanisms (Review), Human Molecular Genetics, Vol. 8, No. 10: 1947–1954, [more...]
1998 Perez Jurado, L. A.,Y.-K. Wang, R. Peoples, A. Coloma, J. Cruces, and U. Francke. 1998. A duplicated gene in the breakpointregions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-1 and BAP-135, a phosphorylation target of BTK. Hum. Mol. Genet. 7: 325–334 [more].
Wang JY, Frenzel KE, Wen D, Falls DL 1998 Transmembrane neuregulinsinteract with LIM kinase 1, a cytoplasmic protein kinase implicated indevelopment of visuospatial cognition. J Biol Chem273: 20525–20534 [more...]
1997 Tassabehji M, Metcalfe K, Donnai D, Hurst J, Reardon W, Burch M, Read AP, 1997, Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis. Hum Mol Genet 6:1029–1036 [more...]
Wang, Y.-K., C. Harryman Samos, R. Peoples, L. A. Perez-Jurado, R. Nusse, and U. Francke. 1997. A novel human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at 7q11.23. Hum. Mol. Genet. 6: 465–472 [more...].
1996 Dutly, F. and A. Schinzel. 1996. Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome. Hum. Mol. Genet. 5: 1893–1898 [more...].
Wollack JB, Kaifer M, La Monte MP, Rothman M 1996 Stroke in Williams syndrome. Stroke 27:143–146 [more...]