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Journal Abstract Search

184 related items for PubMed ID: 23653586

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  • 2. 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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  • 6. An unusual combination of an atypical maternally inherited novel 0.3 Mb deletion in Williams-Beuren region and a de novo 22q11.21 microduplication in an infant with supravalvular aortic stenosis.
    Evangelidou P, Kousoulidou L, Salameh N, Alexandrou A, Papaevripidou I, Alexandrou IM, Ketoni A, Ioannidou C, Christophidou-Anastasiadou V, Tanteles GA, Sismani C.
    Eur J Med Genet; 2020 Dec; 63(12):104084. PubMed ID: 33045407
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  • 11. Atypical deletion of Williams-Beuren syndrome reveals the mechanism of neurodevelopmental disorders.
    Zhou J, Zheng Y, Liang G, Xu X, Liu J, Chen S, Ge T, Wen P, Zhang Y, Liu X, Zhuang J, Wu Y, Chen J.
    BMC Med Genomics; 2022 Apr 04; 15(1):79. PubMed ID: 35379245
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  • 12. GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region.
    Morris CA, Mervis CB, Hobart HH, Gregg RG, Bertrand J, Ensing GJ, Sommer A, Moore CA, Hopkin RJ, Spallone PA, Keating MT, Osborne L, Kimberley KW, Stock AD.
    Am J Med Genet A; 2003 Nov 15; 123A(1):45-59. PubMed ID: 14556246
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  • 14. Williams-Beuren syndrome: a model of recurrent genomic mutation.
    Pérez Jurado AL.
    Horm Res; 2003 Nov 15; 59 Suppl 1():106-13. PubMed ID: 12638521
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  • 17. Williams-Beuren Syndrome: Experience of 43 Patients and a Report of an Atypical Case from a Tertiary Care Center in India.
    Sharma P, Gupta N, Chowdhury MR, Phadke SR, Sapra S, Halder A, Ghosh M, Kabra M.
    Cytogenet Genome Res; 2015 Nov 15; 146(3):187-94. PubMed ID: 26352091
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  • 18. Computerized Tomography Use in Williams-Beuren Syndrome Aortopathy.
    Kalis NN, Sulaibikh LK, Al Amer SR, Al Amer HY.
    Heart Views; 2017 Nov 15; 18(1):21-25. PubMed ID: 28584589
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  • 19. Anxious, hypoactive phenotype combined with motor deficits in Gtf2ird1 null mouse model relevant to Williams syndrome.
    Schneider T, Skitt Z, Liu Y, Deacon RM, Flint J, Karmiloff-Smith A, Rawlins JN, Tassabehji M.
    Behav Brain Res; 2012 Aug 01; 233(2):458-73. PubMed ID: 22652393
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  • 20. 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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