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Robinson WP, Waslynka J, Bernasconi F, Wang M, Clark S, Kotzot D. Schinzel A: Delineation of 7q11.2 deletions associated with Williams-Beuren syndrome and mapping of a repetitive sequence to within and to either side of the common deletion. Genomics 1996, 134:17-23.
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PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7
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Osborne LR, Herbrick J, Greavette T, Heng HHQ, Tsui LC, Scherer SW: PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7. Genomics 1997, 45:402-406. A physical map of Williams syndrome region of chromosome 7 is presented, along with a description of DNA mismatch repair genes flanking the region.
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Osborne, L.R.1
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50
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Molecular definition of the chromsome 7 deletions in Williams syndrome and parent-of-origin effects on growth
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Perez-Jurado LAP, Peoples R, Kaplan P, Hamel BCJ, Francke U: Molecular definition of the chromsome 7 deletions in Williams syndrome and parent-of-origin effects on growth. Am J Hum Genet 1996, 59:781-792.
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51
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Identification of genes from a 500 kb region at 7q11.23 that is commonly deleted in Williams syndrome patients
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Osborne LR, Martindale D, Scherer WS, Shi XM, Huizenga J, Heng HHQ, Costa T, Pober B, Lew L, Brinkman J, Rommens J, Koop B, Tsui LC: Identification of genes from a 500 kb region at 7q11.23 that is commonly deleted in Williams syndrome patients. Genomics 1996, 36:328-336. Identification of genes deleted in Williams syndrome region.
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Osborne, L.R.1
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Koop, B.12
Tsui, L.C.13
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52
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LIM-kinase 1 hemizygosity implicated in impaired visuospatial constructive cognition
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Frangiskakis JM, Ewart AK, Morris CA, Mervis CB, Bertrand J, Robinson BF, Klein BP, Ensing GJ, Everett LA, Green ED, Proschel C, Gutowski NJ, Noble M, Atkinson DL, Odelberg SJ, Keating MT: LIM-kinase 1 hemizygosity implicated in impaired visuospatial constructive cognition. Cell 1996, 86:59-69. Description of Williams syndrome cognitive profile and demonstration of cognitive profile segregating with LIMk1 deletion.
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Frangiskakis, J.M.1
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53
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Fluorescent in situ hybridization (FISH) for hemizygous deletion at the elastin locus in patients with isolated supravalvular aortic stenosis
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Fryssira H, Palmer R, Hallidie-Smith KA, Taylor J, Donnai D, Reardon W: Fluorescent in situ hybridization (FISH) for hemizygous deletion at the elastin locus in patients with isolated supravalvular aortic stenosis. J Med Genet 1997, 34:306-308.
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54
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The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion
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Peoples R, Perez-Jurado L, Wang YK, Kaplan P, Francke U: The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion. Am J Hum Genet 1996, 58:1370-1373.
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55
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A novel human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at 7q11.23
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Wang YK, Samos CH, Peoples R, Perez-Jurado LA, Nusse R, Francke U: 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 1997, 6:465-472. Mapping of FZD3.
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56
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Hemizygous deletion of the syntaxin 1A gene in individuals with Williams syndrome
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Osborne LR, Soder S, Shi XM, Pober B, Costa T, Scherer WS, Tsui LC: Hemizygous deletion of the syntaxin 1A gene in individuals with Williams syndrome. Am J Hum Genet 1997, 61:449-452. Mapping of STX1A.
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Osborne, L.R.1
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Tsui, L.C.7
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