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Journal Abstract Search

301 related items for PubMed ID: 16930009

  • 1. Williams-Beuren syndrome diagnosis using fluorescence in situ hybridization.
    Osborne LR, Joseph-George AM, Scherer SW.
    Methods Mol Med; 2006; 126():113-28. PubMed ID: 16930009
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  • 2. Williams-Beuren syndrome: determination of deletion size using quantitative real-time PCR.
    Schubert C, Laccone F.
    Int J Mol Med; 2006 Nov; 18(5):799-806. PubMed ID: 17016608
    [Abstract] [Full Text] [Related]

  • 3. [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
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  • 4. Keratoconus associated with Williams-Beuren syndrome: first case reports.
    Pinsard L, Touboul D, Vu Y, Lacombe D, Leger F, Colin J.
    Ophthalmic Genet; 2010 Dec 19; 31(4):252-6. PubMed ID: 21067490
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  • 5. Fine-scale comparative mapping of the human 7q11.23 region and the orthologous region on mouse chromosome 5G: the low-copy repeats that flank the Williams-Beuren syndrome deletion arose at breakpoint sites of an evolutionary inversion(s).
    Valero MC, de Luis O, Cruces J, Pérez Jurado LA.
    Genomics; 2000 Oct 01; 69(1):1-13. PubMed ID: 11013070
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  • 6. Assessment of clinical scoring systems for the diagnosis of Williams-Beuren syndrome.
    Leme DE, Souza DH, Mercado G, Pastene E, Dias A, Moretti-Ferreira D.
    Genet Mol Res; 2013 Sep 04; 12(3):3407-11. PubMed ID: 24065682
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  • 7. Diagnosis of DiGeorge and Williams syndromes using FISH analysis of peripheral blood smears.
    Novelli A, Sabani M, Caiola A, Digilio MC, Giannotti A, Mingarelli R, Novelli G, Dallapiccola B.
    Mol Cell Probes; 1999 Aug 04; 13(4):303-7. PubMed ID: 10441203
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  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. Williams-Beuren Syndrome and Burkitt Leukemia.
    Zhukova N, Naqvi A.
    J Pediatr Hematol Oncol; 2013 Jan 15; 35(1):e30-2. PubMed ID: 23018576
    [Abstract] [Full Text] [Related]

  • 10. Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children.
    Scherer SW, Gripp KW, Lucena J, Nicholson L, Bonnefont JP, Pérez-Jurado LA, Osborne LR.
    Hum Genet; 2005 Aug 15; 117(4):383-8. PubMed ID: 15933846
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  • 12. 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 15; 167A(12):3197-203. PubMed ID: 26420477
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  • 14. The elastin gene is disrupted in a family with a balanced translocation t(7;16)(q11.23;q13) associated with a variable expression of the Williams-Beuren syndrome.
    Duba HC, Doll A, Neyer M, Erdel M, Mann C, Hammerer I, Utermann G, Grzeschik KH.
    Eur J Hum Genet; 2002 Jun 15; 10(6):351-61. PubMed ID: 12080386
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  • 17. [Williams syndrome: new insights into genetic etiology, pathogenesis and clinical aspects].
    van Hagen JM, Govaerts LC, de Coo IF, Gille JJ, Nieuwint AW, Madan K.
    Ned Tijdschr Geneeskd; 2001 Mar 03; 145(9):396-400. PubMed ID: 11253493
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  • 19. [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 Mar 03; 212(6):299-307. PubMed ID: 11190824
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  • 20. [Detection of a Williams Beuren syndrome case by MLPA].
    Laurito S, Branham T, Herrero G, Marsa S, Garro F, Roqué M.
    Medicina (B Aires); 2013 Mar 03; 73(1):47-50. PubMed ID: 23335707
    [Abstract] [Full Text] [Related]

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