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Items: 15

1.

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 9;73(1):159-68.

PMID:
8096434
2.

Genetic aspects of supravalvular aortic stenosis.

Morris CA.

Curr Opin Cardiol. 1998 May;13(3):214-9. Review.

PMID:
9649945
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. Review. French.

PMID:
9295957
4.

[Genetic diagnosis of Williams syndrome].

Urbán Z, Kiss E, Kádár K, Szabolcs J, Csiszár K, Boyd DC, Fekete G.

Orv Hetil. 1997 Jul 6;138(27):1749-52. Review. Hungarian.

PMID:
9273487
5.

Elastin mutation and cardiac disease.

Chowdhury T, Reardon W.

Pediatr Cardiol. 1999 Mar-Apr;20(2):103-7. Review.

PMID:
9986885
6.

[Gene polymorphisms leading to calcified and stenotic aortic valves].

Anger T, Ekici AB, Daniel WG, Garlichs CD.

Herz. 2006 Oct;31(7):635-43. Review. German.

PMID:
17072776
7.

Molecular pathology of the elastic fibers.

Christiano AM, Uitto J.

J Invest Dermatol. 1994 Nov;103(5 Suppl):53S-57S. Review.

PMID:
7963685
8.

Congenital supravalvar aortic stenosis: a simple lesion?

Stamm C, Friehs I, Ho SY, Moran AM, Jonas RA, del Nido PJ.

Eur J Cardiothorac Surg. 2001 Feb;19(2):195-202. Review.

PMID:
11167112
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11.

Autosomal dominant supravalvular aortic stenosis: large three-generation family.

Schmidt MA, Ensing GJ, Michels VV, Carter GA, Hagler DJ, Feldt RH.

Am J Med Genet. 1989 Mar;32(3):384-9. Review.

PMID:
2658589
12.

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. doi: 10.1161/CIRCGENETICS.112.962860. Review.

13.

Elastin genes and regulation of their expression.

Rosenbloom J, Bashir M, Kahari VM, Uitto J.

Crit Rev Eukaryot Gene Expr. 1991;1(3):145-56. Review. No abstract available.

PMID:
1802107
14.

[Molecular genetics of cardiovascular diseases].

Schunkert H, Hense HW.

Dtsch Med Wochenschr. 1995 Apr 13;120(15):533-9. Review. German. No abstract available.

PMID:
7720536
15.

Molecular biology and pathology of human elastin.

Uitto J, Christiano AM, Kähäri VM, Bashir MM, Rosenbloom J.

Biochem Soc Trans. 1991 Nov;19(4):824-9. Review. No abstract available.

PMID:
1794566

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