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MeSH Review

Aortic Stenosis, Supravalvular

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Disease relevance of Aortic Stenosis, Supravalvular


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Biological context of Aortic Stenosis, Supravalvular


Anatomical context of Aortic Stenosis, Supravalvular


Gene context of Aortic Stenosis, Supravalvular


  1. Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome. Urbán, Z., Riazi, S., Seidl, T.L., Katahira, J., Smoot, L.B., Chitayat, D., Boyd, C.D., Hinek, A. Am. J. Hum. Genet. (2002) [Pubmed]
  2. Domains in tropoelastin that mediate elastin deposition in vitro and in vivo. Kozel, B.A., Wachi, H., Davis, E.C., Mecham, R.P. J. Biol. Chem. (2003) [Pubmed]
  3. The Williams elfin facies syndrome. A new perspective. Jones, K.L., Smith, D.W. J. Pediatr. (1975) [Pubmed]
  4. Williams syndrome: from genotype through to the cognitive phenotype. Donnai, D., Karmiloff-Smith, A. Am. J. Med. Genet. (2000) [Pubmed]
  5. Role of neurohumoral systems for pressure induced left ventricular hypertrophy in experimental supravalvular aortic stenosis in rats. Kromer, E.P., Elsner, D., Riegger, G.A. Am. J. Hypertens. (1991) [Pubmed]
  6. 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, M.B., Pedersen, W., Petersen, M.B., Sand, A., Skovby, F., Stafanger, G., Zetterqvist, P., Tommerup, N. Hum. Genet. (1997) [Pubmed]
  7. Williams syndrome and the elastin gene in Thai patients. Ruangdaraganon, N., Tocharoentanaphol, C., Kotchabhakdi, N., Khowsathit, P. Journal of the Medical Association of Thailand = Chotmaihet thangphaet. (1999) [Pubmed]
  8. The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis. Curran, M.E., Atkinson, D.L., Ewart, A.K., Morris, C.A., Leppert, M.F., Keating, M.T. Cell (1993) [Pubmed]
  9. Novel arterial pathology in mice and humans hemizygous for elastin. Li, D.Y., Faury, G., Taylor, D.G., Davis, E.C., Boyle, W.A., Mecham, R.P., Stenzel, P., Boak, B., Keating, M.T. J. Clin. Invest. (1998) [Pubmed]
  10. Evaluation of the aortic root by MRI: insights from patients with homozygous familial hypercholesterolemia. Summers, R.M., Andrasko-Bourgeois, J., Feuerstein, I.M., Hill, S.C., Jones, E.C., Busse, M.K., Wise, B., Bove, K.E., Rishforth, B.A., Tucker, E., Spray, T.L., Hoeg, J.M. Circulation (1998) [Pubmed]
  11. Supravalvular aortic stenosis and coronary ostial stenosis in familial hypercholesterolemia: two-dimensional echocardiographic assessment. Beppu, S., Minura, Y., Sakakibara, H., Nagata, S., Park, Y.D., Nambu, S., Yamamoto, A. Circulation (1983) [Pubmed]
  12. Increased mitral-aortic separation in discrete subaortic stenosis. Rosenquist, G.C., Clark, E.B., McAllister, H.A., Bharati, S., Edwards, J.E. Circulation (1979) [Pubmed]
  13. Genetic approaches to cardiovascular disease. Supravalvular aortic stenosis, Williams syndrome, and long-QT syndrome. Keating, M.T. Circulation (1995) [Pubmed]
  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, A.P. Hum. Mol. Genet. (1997) [Pubmed]
  15. Effects of aortic stenosis on renal renin, angiotensin receptor, endothelin and NOS gene expression in rats. Kammerl, M.C., Grimm, D., Kromer, E.P., Jabusch, H.C., Reif, R., Morhard, S., Endemann, D., Fischereder, M., Riegger, G.A., Krämer, B.K. American journal of nephrology. (2002) [Pubmed]
  16. Sensorineural hearing loss in children and adults with Williams syndrome. Marler, J.A., Elfenbein, J.L., Ryals, B.M., Urban, Z., Netzloff, M.L. Am. J. Med. Genet. A (2005) [Pubmed]
  17. Left ventricular apical aneurysm as a consequence of diffuse type congenital nonfamilial supravalvular aortic stenosis in a 30-year-old female. Heper, G., Kose, S., Kilic, A., Amasyali, B., Isik, E. International heart journal. (2005) [Pubmed]
  18. The elfin facies syndrome. Kelly, J.R., Barr, E.S. Oral Surg. Oral Med. Oral Pathol. (1975) [Pubmed]
  19. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Ewart, A.K., Morris, C.A., Atkinson, D., Jin, W., Sternes, K., Spallone, P., Stock, A.D., Leppert, M., Keating, M.T. Nat. Genet. (1993) [Pubmed]
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