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Journal Abstract Search

217 related items for PubMed ID: 9138154

  • 1. Fluorescent in situ hybridisation (FISH) for hemizygous deletion at the elastin locus in patients with isolated supravalvular aortic stenosis.
    Fryssira H, Palmer R, Hallidie-Smith KA, Taylor J, Donnai D, Reardon W.
    J Med Genet; 1997 Apr; 34(4):306-8. PubMed ID: 9138154
    [Abstract] [Full Text] [Related]

  • 2. Genetic aspects of supravalvular aortic stenosis.
    Morris CA.
    Curr Opin Cardiol; 1998 May; 13(3):214-9. PubMed ID: 9649945
    [Abstract] [Full Text] [Related]

  • 3. 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; 71(1):30-44. PubMed ID: 12016585
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  • 4. Elastin mutation and cardiac disease.
    Chowdhury T, Reardon W.
    Pediatr Cardiol; 1999 Jul; 20(2):103-7. PubMed ID: 9986885
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  • 6. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.
    Ewart AK, Morris CA, Atkinson D, Jin W, Sternes K, Spallone P, Stock AD, Leppert M, Keating MT.
    Nat Genet; 1993 Sep; 5(1):11-6. PubMed ID: 7693128
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  • 7. 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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  • 8. [Familial supravalvular aortic stenosis. Investigation in a family and review of the literature].
    Burnel P, Marçon F, Lucron H, Bosser G, Gilgenkrantz S, Jonveaux P, Chéry M, Worms AM.
    Arch Mal Coeur Vaiss; 1997 May; 90(5):719-24. PubMed ID: 9295957
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  • 9. Supravalvular aortic stenosis cosegregates with a familial 6; 7 translocation which disrupts the elastin gene.
    Morris CA, Loker J, Ensing G, Stock AD.
    Am J Med Genet; 1993 Jul 01; 46(6):737-44. PubMed ID: 8362925
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  • 10. Genetic approaches to cardiovascular disease. Supravalvular aortic stenosis, Williams syndrome, and long-QT syndrome.
    Keating MT.
    Circulation; 1995 Jul 01; 92(1):142-7. PubMed ID: 7788908
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  • 11. Williams syndrome and the elastin gene in Thai patients.
    Ruangdaraganon N, Tocharoentanaphol C, Kotchabhakdi N, Khowsathit P.
    J Med Assoc Thai; 1999 Nov 01; 82 Suppl 1():S174-8. PubMed ID: 10730539
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  • 14. Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis.
    Tassabehji M, Metcalfe K, Donnai D, Hurst J, Reardon W, Burch M, Read AP.
    Hum Mol Genet; 1997 Jul 01; 6(7):1029-36. PubMed ID: 9215671
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  • 17. Williams-Beuren syndrome: cardiovascular abnormalities in 20 patients diagnosed with fluorescence in situ hybridization.
    Sugayama SM, Moisés RL, Wagënfur J, Ikari NM, Abe KT, Leone C, da Silva CA, Lopes Ferrari Chauffaille Mde L, Kim CA.
    Arq Bras Cardiol; 2003 Nov 01; 81(5):462-73. PubMed ID: 14666267
    [Abstract] [Full Text] [Related]

  • 18. Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene.
    Ewart AK, Jin W, Atkinson D, Morris CA, Keating MT.
    J Clin Invest; 1994 Mar 01; 93(3):1071-7. PubMed ID: 8132745
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  • 19. De novo 46,XX,t(6;7)(q27;q11;23) associated with severe cardiovascular manifestations characteristic of supravalvular aortic stenosis and Williams syndrome.
    von Dadelszen P, Chitayat D, Winsor EJ, Cohen H, MacDonald C, Taylor G, Rose T, Hornberger LK.
    Am J Med Genet; 2000 Feb 14; 90(4):270-5. PubMed ID: 10710222
    [Abstract] [Full Text] [Related]

  • 20. Clinical and molecular cytogenetic (FISH) diagnosis of Williams syndrome.
    Brewer CM, Morrison N, Tolmie JL.
    Arch Dis Child; 1996 Jan 14; 74(1):59-61. PubMed ID: 8660051
    [Abstract] [Full Text] [Related]

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