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Journal Abstract Search

176 related items for PubMed ID: 9986885

  • 1. Elastin mutation and cardiac disease.
    Chowdhury T, Reardon W.
    Pediatr Cardiol; 1999; 20(2):103-7. PubMed ID: 9986885
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  • 2. Genetic aspects of supravalvular aortic stenosis.
    Morris CA.
    Curr Opin Cardiol; 1998 May; 13(3):214-9. PubMed ID: 9649945
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  • 3. [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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  • 7. 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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  • 8. 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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  • 10. Elastin: mutational spectrum in supravalvular aortic stenosis.
    Metcalfe K, Rucka AK, Smoot L, Hofstadler G, Tuzler G, McKeown P, Siu V, Rauch A, Dean J, Dennis N, Ellis I, Reardon W, Cytrynbaum C, Osborne L, Yates JR, Read AP, Donnai D, Tassabehji M.
    Eur J Hum Genet; 2000 Dec; 8(12):955-63. PubMed ID: 11175284
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  • 11. Sudden Cardiac Arrest During a Sedated Cardiac Magnetic Resonance Study in a Nonsyndromic Child with Evolving Supravalvar Aortic Stenosis Due to Familial ELN Mutation.
    Markush D, Sanchez-Lara PA, Grand K, Wong R, Garg R.
    Pediatr Cardiol; 2023 Apr; 44(4):946-950. PubMed ID: 36790509
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  • 12. The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis.
    Curran ME, Atkinson DL, Ewart AK, Morris CA, Leppert MF, Keating MT.
    Cell; 1993 Apr 09; 73(1):159-68. PubMed ID: 8096434
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  • 13. 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 09; 10(6):351-61. PubMed ID: 12080386
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  • 17. 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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  • 18. 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 01; 33(12):986-92. PubMed ID: 9004128
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  • 19. Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin.
    Wu YQ, Sutton VR, Nickerson E, Lupski JR, Potocki L, Korenberg JR, Greenberg F, Tassabehji M, Shaffer LG.
    Am J Med Genet; 1998 Jun 16; 78(1):82-9. PubMed ID: 9637430
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  • 20. Genetic Diagnosis and the Severity of Cardiovascular Phenotype in Patients With Elastin Arteriopathy.
    Min S, Kinnear C, D'Alessandro LCA, Bouwmeester J, Yao R, Chiasson D, Keeley F, Mital S.
    Circ Genom Precis Med; 2020 Dec 16; 13(6):e002971. PubMed ID: 32960096
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