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256 related items for PubMed ID: 21808859

  • 1. Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers.
    Dutra RL, Pieri Pde C, Teixeira AC, Honjo RS, Bertola DR, Kim CA.
    Clinics (Sao Paulo); 2011; 66(6):959-64. PubMed ID: 21808859
    [Abstract] [Full Text] [Related]

  • 2. Genotype-phenotype correlation and the size of microdeletion or microduplication of 7q11.23 region in patients with Williams-Beuren syndrome.
    Ghaffari M, Tahmasebi Birgani M, Kariminejad R, Saberi A.
    Ann Hum Genet; 2018 Nov; 82(6):469-476. PubMed ID: 30155880
    [Abstract] [Full Text] [Related]

  • 3. Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries.
    Dutra RL, Honjo RS, Kulikowski LD, Fonseca FM, Pieri PC, Jehee FS, Bertola DR, Kim CA.
    BMC Res Notes; 2012 Jan 09; 5():13. PubMed ID: 22226172
    [Abstract] [Full Text] [Related]

  • 4. Williams-Beuren syndrome: diagnosis by polymorphic markers.
    Sbruzzi IC, Pereira AC, Vasconcelos B, Honjo RS, Krieger JE, Kim CA.
    Genet Test Mol Biomarkers; 2010 Apr 09; 14(2):209-14. PubMed ID: 20136526
    [Abstract] [Full Text] [Related]

  • 5. [Clinical aspects and genetics of Williams-Beuren syndrome. Clinical and molecular genetic study of 44 patients with suspected Williams-Beuren syndrome].
    von Beust G, Laccone FA, del Pilar Andrino M, Wessel A.
    Klin Padiatr; 2000 Apr 09; 212(6):299-307. PubMed ID: 11190824
    [Abstract] [Full Text] [Related]

  • 6. [Clinical characterization, molecular and FISH studies in 80 patients with clinical suspicion of Williams-Beuren syndrome].
    Milà M, Carrió A, Sánchez A, Gómez D, Jiménez D, Estivill X, Ballesta F.
    Med Clin (Barc); 1999 Jun 19; 113(2):46-9. PubMed ID: 10425618
    [Abstract] [Full Text] [Related]

  • 7. 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 19; 167A(12):3197-203. PubMed ID: 26420477
    [Abstract] [Full Text] [Related]

  • 8. [Atypical deletions in Williams-Beuren syndrome].
    Ramírez-Velazco A, Domínguez-Quezada MG.
    Rev Med Inst Mex Seguro Soc; 2017 Dec 19; 55(5):615-620. PubMed ID: 29193944
    [Abstract] [Full Text] [Related]

  • 9. 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 19; 33(12):986-92. PubMed ID: 9004128
    [Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. The genomic basis of the Williams-Beuren syndrome.
    Schubert C.
    Cell Mol Life Sci; 2009 Apr 15; 66(7):1178-97. PubMed ID: 19039520
    [Abstract] [Full Text] [Related]

  • 12. 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 15; 63(12):104084. PubMed ID: 33045407
    [Abstract] [Full Text] [Related]

  • 13. FISH analysis in both classical and atypical cases of Williams-Beuren syndrome.
    Hou JW, Wang JK, Wang TR.
    Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi; 1998 Dec 15; 39(6):398-403. PubMed ID: 9926515
    [Abstract] [Full Text] [Related]

  • 14. Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth.
    Pérez Jurado LA, Peoples R, Kaplan P, Hamel BC, Francke U.
    Am J Hum Genet; 1996 Oct 15; 59(4):781-92. PubMed ID: 8808592
    [Abstract] [Full Text] [Related]

  • 15. Williams-Beuren syndrome: determination of deletion size using quantitative real-time PCR.
    Schubert C, Laccone F.
    Int J Mol Med; 2006 Nov 15; 18(5):799-806. PubMed ID: 17016608
    [Abstract] [Full Text] [Related]

  • 16. Investigation of deletions at 7q11.23 in 44 patients referred for Williams-Beuren syndrome, using FISH and four DNA polymorphisms.
    Brøndum-Nielsen K, Beck B, Gyftodimou J, Hørlyk H, Liljenberg U, Petersen MB, Pedersen W, Petersen MB, Sand A, Skovby F, Stafanger G, Zetterqvist P, Tommerup N.
    Hum Genet; 1997 Jan 15; 99(1):56-61. PubMed ID: 9003495
    [Abstract] [Full Text] [Related]

  • 17. Ocular Features in 16 Brazilian Patients with Williams-Beuren Syndrome.
    Viana MM, Frasson M, Galvão H, Leão LL, Stofanko M, Gonçalves-Dornelas H, da Silva Cunha P, Burle de Aguiar MJ.
    Ophthalmic Genet; 2015 Jan 15; 36(3):234-8. PubMed ID: 24417560
    [Abstract] [Full Text] [Related]

  • 18. 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 15; 170A(1):148-55. PubMed ID: 26437767
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