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Items: 1 to 20 of 128

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.

Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis.

Li DY, Toland AE, Boak BB, Atkinson DL, Ensing GJ, Morris CA, Keating MT.

Hum Mol Genet. 1997 Jul;6(7):1021-8.

PMID:
9215670
3.

Autosomal dominant supravalvular aortic stenosis: localization to chromosome 7.

Olson TM, Michels VV, Lindor NM, Pastores GM, Weber JL, Schaid DJ, Driscoll DJ, Feldt RH, Thibodeau SN.

Hum Mol Genet. 1993 Jul;2(7):869-73.

PMID:
8364568
4.

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;10(6):351-61.

6.

Supravalvular aortic stenosis: a splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts.

Urbán Z, Michels VV, Thibodeau SN, Donis-Keller H, Csiszár K, Boyd CD.

Hum Genet. 1999 Feb;104(2):135-42.

PMID:
10190324
7.

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;6(7):1029-36.

PMID:
9215671
8.

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 1;46(6):737-44.

PMID:
8362925
9.

Genetic aspects of supravalvular aortic stenosis.

Morris CA.

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

PMID:
9649945
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.

11.

Confirmation of linkage of supravalvular aortic stenosis to the elastin gene on chromosome 7q.

Kumar A, Olson TM, Thibodeau SN, Michels VV, Schaid DJ, Wallace MR.

Am J Cardiol. 1994 Dec 15;74(12):1281-3. No abstract available.

PMID:
7977109
12.

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;93(3):1071-7.

13.

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.

PMID:
7693128
14.

A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7.

Ewart AK, Morris CA, Ensing GJ, Loker J, Moore C, Leppert M, Keating M.

Proc Natl Acad Sci U S A. 1993 Apr 15;90(8):3226-30.

15.

Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay.

Urbán Z, Michels VV, Thibodeau SN, Davis EC, Bonnefont JP, Munnich A, Eyskens B, Gewillig M, Devriendt K, Boyd CD.

Hum Genet. 2000 Jun;106(6):577-88.

PMID:
10942104
16.

Novel mutations in the human elastin gene (ELN) causing isolated supravalvular aortic stenosis.

Park S, Seo EJ, Yoo HW, Kim Y.

Int J Mol Med. 2006 Aug;18(2):329-32.

PMID:
16820942
17.

[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
18.

Supravalvular aortic stenosis: genetic and molecular dissection of a complex mutation in the elastin gene.

Urbán Z, Zhang J, Davis EC, Maeda GK, Kumar A, Stalker H, Belmont JW, Boyd CD, Wallace MR.

Hum Genet. 2001 Nov;109(5):512-20. Epub 2001 Oct 13.

PMID:
11735026
19.

Congenital heart disease: Molecular diagnostics of supravalvular aortic stenosis.

Tassabehji M, Urban Z.

Methods Mol Med. 2006;126:129-56.

PMID:
16930010
20.

[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

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