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Journal Abstract Search

179 related items for PubMed ID: 12638521

  • 1. Williams-Beuren syndrome: a model of recurrent genomic mutation.
    Pérez Jurado AL.
    Horm Res; 2003; 59 Suppl 1():106-13. PubMed ID: 12638521
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  • 3. The genomic basis of the Williams-Beuren syndrome.
    Schubert C.
    Cell Mol Life Sci; 2009 Apr; 66(7):1178-97. PubMed ID: 19039520
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  • 6. Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile.
    Antonell A, Del Campo M, Magano LF, Kaufmann L, de la Iglesia JM, Gallastegui F, Flores R, Schweigmann U, Fauth C, Kotzot D, Pérez-Jurado LA.
    J Med Genet; 2010 May; 47(5):312-20. PubMed ID: 19897463
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  • 11. 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; 18(5):683-94. PubMed ID: 18292220
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  • 12. An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.
    Ferrero GB, Howald C, Micale L, Biamino E, Augello B, Fusco C, Turturo MG, Forzano S, Reymond A, Merla G.
    Eur J Hum Genet; 2010 Jan; 18(1):33-8. PubMed ID: 19568270
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  • 13. Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome.
    Dutly F, Schinzel A.
    Hum Mol Genet; 1996 Dec; 5(12):1893-8. PubMed ID: 8968740
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  • 14. Williams-Beuren syndrome: genes and mechanisms.
    Francke U.
    Hum Mol Genet; 1999 Dec; 8(10):1947-54. PubMed ID: 10469848
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  • 17. Williams-Beuren Syndrome: more or less? Segmental duplications and deletions in the Williams-Beuren syndrome region provide new insights into language development.
    Tassabehji M, Donnai D.
    Eur J Hum Genet; 2006 May; 14(5):507-8. PubMed ID: 16523213
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  • 18. 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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  • 19. GTF2IRD2 is located in the Williams-Beuren syndrome critical region 7q11.23 and encodes a protein with two TFII-I-like helix-loop-helix repeats.
    Makeyev AV, Erdenechimeg L, Mungunsukh O, Roth JJ, Enkhmandakh B, Ruddle FH, Bayarsaihan D.
    Proc Natl Acad Sci U S A; 2004 Jul 27; 101(30):11052-7. PubMed ID: 15243160
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  • 20. 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 27; 170A(1):148-55. PubMed ID: 26437767
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