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Journal Abstract Search

377 related items for PubMed ID: 9926515

  • 1. 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; 39(6):398-403. PubMed ID: 9926515
    [Abstract] [Full Text] [Related]

  • 2. 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; 33(12):986-92. PubMed ID: 9004128
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  • 4. [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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  • 5. 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 19; 10(6):351-61. PubMed ID: 12080386
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  • 7. Detection of hemizygosity at the elastin locus by FISH analysis as a diagnostic test in both classical and atypical cases of Williams syndrome.
    Borg I, Delhanty JD, Baraitser M.
    J Med Genet; 1995 Sep 19; 32(9):692-6. PubMed ID: 8544187
    [Abstract] [Full Text] [Related]

  • 8. Molecular cytogenetic diagnosis of Williams syndrome.
    Hirota H, Matsuoka R, Kimura M, Imamura S, Joh-o K, Ando M, Takao A, Momma K.
    Am J Med Genet; 1996 Aug 23; 64(3):473-7. PubMed ID: 8862624
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  • 9. 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 23; 99(1):56-61. PubMed ID: 9003495
    [Abstract] [Full Text] [Related]

  • 10. Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus.
    Kotzot D, Bernasconi F, Brecevic L, Robinson WP, Kiss P, Kosztolanyi G, Lurie IW, Superti-Furga A, Schinzel A.
    Eur J Pediatr; 1995 Jun 23; 154(6):477-82. PubMed ID: 7545578
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  • 11. Microdeletion oe chromosomal region 7Q11.23 in Williams syndrome.
    Hou JW, Wang JK, Wang TR.
    J Formos Med Assoc; 1997 Feb 23; 96(2):137-40. PubMed ID: 9071842
    [Abstract] [Full Text] [Related]

  • 12. Clinical and molecular cytogenetic (FISH) diagnosis of Williams syndrome.
    Brewer CM, Morrison N, Tolmie JL.
    Arch Dis Child; 1996 Jan 23; 74(1):59-61. PubMed ID: 8660051
    [Abstract] [Full Text] [Related]

  • 13. [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 Jan 23; 73(1):47-50. PubMed ID: 23335707
    [Abstract] [Full Text] [Related]

  • 14. A rare case of discrete aortic coarctation in Williams-Beuren syndrome. Diagnostic and therapeutic considerations.
    Mannarino S, Keizman E, Pasotti M, Codazzi AC, De Sando E, Giamberti A.
    Pediatr Med Chir; 2015 Sep 29; 37(2):pmc.2015.120. PubMed ID: 26429123
    [Abstract] [Full Text] [Related]

  • 15. 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 29; 82(6):469-476. PubMed ID: 30155880
    [Abstract] [Full Text] [Related]

  • 16. Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome.
    Urbán Z, Riazi S, Seidl TL, Katahira J, Smoot LB, Chitayat D, Boyd CD, Hinek A.
    Am J Hum Genet; 2002 Jul 29; 71(1):30-44. PubMed ID: 12016585
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  • 17. FISH analysis in patients with clinical diagnosis of Williams syndrome.
    Elçioglu N, Mackie-Ogilvie C, Daker M, Berry AC.
    Acta Paediatr; 1998 Jan 29; 87(1):48-53. PubMed ID: 9510447
    [Abstract] [Full Text] [Related]

  • 18. 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 29; 167A(12):3197-203. PubMed ID: 26420477
    [Abstract] [Full Text] [Related]

  • 19. 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 Dec 29; 66(6):959-64. PubMed ID: 21808859
    [Abstract] [Full Text] [Related]

  • 20. 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 29; 63(12):104084. PubMed ID: 33045407
    [Abstract] [Full Text] [Related]

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