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Journal Abstract Search


314 related items for PubMed ID: 10631136

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  • 23. Generation and comparative analysis of approximately 3.3 Mb of mouse genomic sequence orthologous to the region of human chromosome 7q11.23 implicated in Williams syndrome.
    DeSilva U, Elnitski L, Idol JR, Doyle JL, Gan W, Thomas JW, Schwartz S, Dietrich NL, Beckstrom-Sternberg SM, McDowell JC, Blakesley RW, Bouffard GG, Thomas PJ, Touchman JW, Miller W, Green ED.
    Genome Res; 2002 Jan; 12(1):3-15. PubMed ID: 11779826
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  • 25. Identification of GTF2IRD1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23.
    Franke Y, Peoples RJ, Francke U.
    Cytogenet Cell Genet; 1999 Jan; 86(3-4):296-304. PubMed ID: 10575229
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  • 26. Chromosomal Microarray Analysis in Taiwanese Patients with Williams-Beuren Syndrome.
    Kuo HT, Chen CH, Lin CY, Chang YS, Chang JG.
    Cytogenet Genome Res; 2019 Jan; 159(4):182-189. PubMed ID: 31931504
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  • 27. The elastin gene is disrupted in a family with a balanced translocation t(7;16)(q11.23;q13) associated with a variable expression of the Williams-Beuren syndrome.
    Duba HC, Doll A, Neyer M, Erdel M, Mann C, Hammerer I, Utermann G, Grzeschik KH.
    Eur J Hum Genet; 2002 Jun; 10(6):351-61. PubMed ID: 12080386
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  • 31. Haploinsufficiency of Gtf2i, a gene deleted in Williams Syndrome, leads to increases in social interactions.
    Sakurai T, Dorr NP, Takahashi N, McInnes LA, Elder GA, Buxbaum JD.
    Autism Res; 2011 Feb; 4(1):28-39. PubMed ID: 21328569
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  • 33. A new diagnosis of Williams-Beuren syndrome in a 49-year-old man with severe bullous emphysema.
    Wojcik MH, Carmichael N, Bieber FR, Wiener DC, Madan R, Pober BR, Raby BA.
    Am J Med Genet A; 2017 Aug; 173(8):2235-2239. PubMed ID: 28574231
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  • 39. Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients.
    Joyce CA, Zorich B, Pike SJ, Barber JC, Dennis NR.
    J Med Genet; 1996 Dec; 33(12):986-92. PubMed ID: 9004128
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  • 40. Genes for the CPE receptor (CPETR1) and the human homolog of RVP1 (CPETR2) are localized within the Williams-Beuren syndrome deletion.
    Paperna T, Peoples R, Wang YK, Kaplan P, Francke U.
    Genomics; 1998 Dec 15; 54(3):453-9. PubMed ID: 9878248
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