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Journal Abstract Search

192 related items for PubMed ID: 27938597

  • 1. [Diagnosis of a case with Williams-Beuren syndrome with nephrocalcinosis using chromosome microarray analysis].
    Jin SJ, Liu M, Long WJ, Luo XP.
    Zhonghua Er Ke Za Zhi; 2016 Dec 02; 54(12):941-945. PubMed ID: 27938597
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  • 2. Williams-Beuren syndrome associated with single kidney and nephrocalcinosis: a case report.
    Abidi K, Jellouli M, Ben Rabeh R, Hammi Y, Gargah T.
    Pan Afr Med J; 2015 Dec 02; 22():276. PubMed ID: 26958139
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  • 6. Rare genomic rearrangement in a boy with Williams-Beuren syndrome associated to XYY syndrome and intriguing behavior.
    Dutra RL, Piazzon FB, Zanardo ÉA, Costa TV, Montenegro MM, Novo-Filho GM, Dias AT, Nascimento AM, Kim CA, Kulikowski LD.
    Am J Med Genet A; 2015 Dec 02; 167A(12):3197-203. PubMed ID: 26420477
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  • 7. [Genetic analysis of a child with atypical Williams-Beuren syndrome presenting as supravalvular aortic stenosis].
    Wu D, Zhang M, Gao Y, Huo X, Xiao H, Zhang Q, Kang B, Wang X, Liao S.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Apr 10; 37(4):475-478. PubMed ID: 32219841
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  • 8. [Application of single nucleotide polymorphism-array for the diagnosis of Williams-Beuren syndrome in a case].
    Li J, Du J, Fu H, Wang J, Yu Z.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Aug 10; 33(4):505-7. PubMed ID: 27455008
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  • 10. Arterial hypertension in a child with Williams-Beuren syndrome (7q11.23 chromosomal deletion).
    Sylos Cd, Pereira AC, Azeka E, Miura N, Mesquita SM, Ebaid M.
    Arq Bras Cardiol; 2002 Aug 10; 79(2):173-80. PubMed ID: 12219191
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  • 12. Prenatal diagnosis of 7q11.23 microdeletion: Two cases report and literature review.
    Lv X, Yang X, Li L, Yue F, Zhang H, Wang R.
    Medicine (Baltimore); 2023 Oct 27; 102(43):e34852. PubMed ID: 37904428
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  • 13. Bilateral vocal cord paralysis and hypothyroidism as presenting symptoms of Williams-Beuren syndrome: a case report.
    Koren I, Kessel I, Rotschild A, Cohen-Kerem R.
    Int J Pediatr Otorhinolaryngol; 2015 Sep 27; 79(9):1582-3. PubMed ID: 26143126
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  • 16. High-resolution single nucleotide polymorphism arrays identified an atypical microdeletion of the Williams-Beuren syndrome interval in a patient presenting with a different phenotype.
    Hu S, Yang Y, Liu L, Tan Z, Zhao T.
    Mol Med Rep; 2017 May 27; 15(5):2709-2712. PubMed ID: 28259930
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  • 17. Transcriptome profile in Williams-Beuren syndrome lymphoblast cells reveals gene pathways implicated in glucose intolerance and visuospatial construction deficits.
    Antonell A, Vilardell M, Pérez Jurado LA.
    Hum Genet; 2010 Jul 27; 128(1):27-37. PubMed ID: 20401492
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  • 18. [Williams-Beuren syndrome: a multidisciplinary approach].
    Lacroix A, Pezet M, Capel A, Bonnet D, Hennequin M, Jacob MP, Bricca G, Couet D, Faury G, Bernicot J, Gilbert-Dussardier B.
    Arch Pediatr; 2009 Mar 27; 16(3):273-82. PubMed ID: 19097873
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  • 19. Williams-Beuren syndrome in the Hong Kong Chinese population: retrospective study.
    Yau EK, Lo IF, Lam ST.
    Hong Kong Med J; 2004 Feb 27; 10(1):22-7. PubMed ID: 14967851
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  • 20. Recurrent achalasia in a child with Williams-Beuren syndrome.
    Pereza N, Barbarić I, Ostojić S, Cace N, Kapović M.
    Coll Antropol; 2011 Sep 27; 35(3):941-4. PubMed ID: 22053584
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