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Journal Abstract Search

314 related items for PubMed ID: 10631136

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  • 6. 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.
    Robinson WP, Waslynka J, Bernasconi F, Wang M, Clark S, Kotzot D, Schinzel A.
    Genomics; 1996 May 15; 34(1):17-23. PubMed ID: 8661020
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  • 9. Williams-Beuren syndrome: genes and mechanisms.
    Francke U.
    Hum Mol Genet; 1999 May 15; 8(10):1947-54. PubMed ID: 10469848
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  • 10. A complete physical contig and partial transcript map of the Williams syndrome critical region.
    Hockenhull EL, Carette MJ, Metcalfe K, Donnai D, Read AP, Tassabehji M.
    Genomics; 1999 Jun 01; 58(2):138-45. PubMed ID: 10366445
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  • 11. Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region.
    Nicita F, Garone G, Spalice A, Savasta S, Striano P, Pantaleoni C, Spartà MV, Kluger G, Capovilla G, Pruna D, Freri E, D'Arrigo S, Verrotti A.
    Am J Med Genet A; 2016 Jan 01; 170A(1):148-55. PubMed ID: 26437767
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  • 14. Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome.
    Osborne LR, Campbell T, Daradich A, Scherer SW, Tsui LC.
    Genomics; 1999 Apr 15; 57(2):279-84. PubMed ID: 10198167
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  • 17. Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits.
    Fusco C, Micale L, Augello B, Teresa Pellico M, Menghini D, Alfieri P, Cristina Digilio M, Mandriani B, Carella M, Palumbo O, Vicari S, Merla G.
    Eur J Hum Genet; 2014 Jan 15; 22(1):64-70. PubMed ID: 23756441
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  • 18. Atypical 7q11.23 deletions excluding ELN gene result in Williams-Beuren syndrome craniofacial features and neurocognitive profile.
    Alesi V, Loddo S, Orlando V, Genovese S, Di Tommaso S, Liambo MT, Pompili D, Ferretti D, Calacci C, Catino G, Falasca R, Dentici ML, Novelli A, Digilio MC, Dallapiccola B.
    Am J Med Genet A; 2021 Jan 15; 185(1):242-249. PubMed ID: 33098373
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  • 20. Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion.
    Cuscó I, Corominas R, Bayés M, Flores R, Rivera-Brugués N, Campuzano V, Pérez-Jurado LA.
    Genome Res; 2008 May 15; 18(5):683-94. PubMed ID: 18292220
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