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Journal Abstract Search

205 related items for PubMed ID: 28584589

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  • 3. 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; 63(12):104084. PubMed ID: 33045407
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  • 6. A 1.3-mb 7q11.23 atypical deletion identified in a cohort of patients with williams-beuren syndrome.
    Delgado LM, Gutierrez M, Augello B, Fusco C, Micale L, Merla G, Pastene EA.
    Mol Syndromol; 2013 Mar; 4(3):143-7. PubMed ID: 23653586
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  • 7. Supravalvular aortic stenosis: elastin arteriopathy.
    Merla G, Brunetti-Pierri N, Piccolo P, Micale L, Loviglio MN.
    Circ Cardiovasc Genet; 2012 Dec; 5(6):692-6. PubMed ID: 23250899
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  • 8. Frequent intragenic microdeletions of elastin in familial supravalvular aortic stenosis.
    Hayano S, Okuno Y, Tsutsumi M, Inagaki H, Fukasawa Y, Kurahashi H, Kojima S, Takahashi Y, Kato T.
    Int J Cardiol; 2019 Jan 01; 274():290-295. PubMed ID: 30228022
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  • 12. Late outcomes for surgical repair of supravalvar aortic stenosis.
    Deo SV, Burkhart HM, Schaff HV, Li Z, Stensrud PE, Olson TM, Connolly HM, Dearani JA.
    Ann Thorac Surg; 2012 Sep 01; 94(3):854-9. PubMed ID: 22727249
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  • 16. Whole exome sequencing in patients with Williams-Beuren syndrome followed by disease modeling in mice points to four novel pathways that may modify stenosis risk.
    Parrish PCR, Liu D, Knutsen RH, Billington CJ, Mecham RP, Fu YP, Kozel BA.
    Hum Mol Genet; 2020 Jul 29; 29(12):2035-2050. PubMed ID: 32412588
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  • 17. Surgical repair of coronary artery ostial stenosis in patients with Williams and elastin arteriopathy syndromes.
    Mainwaring RD, Collins RT, Patrick WL, Martin E, MacMillen KL, Hanley FL.
    J Thorac Cardiovasc Surg; 2021 Jul 29; 162(1):212-219. PubMed ID: 32977964
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  • 18. 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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  • 20. Genetic Testing for Supravalvar Aortic Stenosis: What to Do When It Is Not Williams Syndrome.
    Stephens SB, Novy T, Spurzem GN, Jacob B, Beecroft T, Soludczyk E, Kozel BA, Weigand J, Morris SA.
    J Am Heart Assoc; 2024 Apr 16; 13(8):e034048. PubMed ID: 38591341
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