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Items: 1 to 20 of 66

1.

FAMILIAL SUPRAVALVULAR AORTIC STENOSIS.

EISENBERG R, YOUNG D, JACOBSON B, BOITO A.

Am J Dis Child. 1964 Oct;108:341-7. No abstract available.

PMID:
14186652
2.

Supravalvular aortic stenosis.

WILLIAMS JC, BARRATT-BOYES BG, LOWE JB.

Circulation. 1961 Dec;24:1311-8. No abstract available.

PMID:
14007182
3.

Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance.

BEUREN AJ, APITZ J, HARMJANZ D.

Circulation. 1962 Dec;26:1235-40. No abstract available.

PMID:
13967885
4.

Fibulin-5/DANCE is essential for elastogenesis in vivo.

Nakamura T, Lozano PR, Ikeda Y, Iwanaga Y, Hinek A, Minamisawa S, Cheng CF, Kobuke K, Dalton N, Takada Y, Tashiro K, Ross Jr J, Honjo T, Chien KR.

Nature. 2002 Jan 10;415(6868):171-5.

PMID:
11805835
5.

Generation and comparative analysis of approximately 3.3 Mb of mouse genomic sequence orthologous to the region of human chromosome 7q11.23 implicated in Williams syndrome.

DeSilva U, Elnitski L, Idol JR, Doyle JL, Gan W, Thomas JW, Schwartz S, Dietrich NL, Beckstrom-Sternberg SM, McDowell JC, Blakesley RW, Bouffard GG, Thomas PJ, Touchman JW, Miller W, Green ED.

Genome Res. 2002 Jan;12(1):3-15.

6.

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
7.

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.

8.

A novel elastin gene mutation (1281delC) in a family with supravalvular aortic stenosis: a mutation cluster within exon 20.

Dedic J, Weiss AS, Katahira J, Yu B, Trent RJ, Urbán Z.

Hum Mutat. 2001;17(1):81. No abstract available.

PMID:
11139266
9.

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
11.

Interaction of tropoelastin with the amino-terminal domains of fibrillin-1 and fibrillin-2 suggests a role for the fibrillins in elastic fiber assembly.

Trask TM, Trask BC, Ritty TM, Abrams WR, Rosenbloom J, Mecham RP.

J Biol Chem. 2000 Aug 11;275(32):24400-6.

12.

Elastin gene deletions in Williams syndrome patients result in altered deposition of elastic fibers in skin and a subclinical dermal phenotype.

Urbán Z, Peyrol S, Plauchu H, Zabot MT, Lebwohl M, Schilling K, Green M, Boyd CD, Csiszár K.

Pediatr Dermatol. 2000 Jan-Feb;17(1):12-20.

PMID:
10720981
13.
14.

De novo 46,XX,t(6;7)(q27;q11;23) associated with severe cardiovascular manifestations characteristic of supravalvular aortic stenosis and Williams syndrome.

von Dadelszen P, Chitayat D, Winsor EJ, Cohen H, MacDonald C, Taylor G, Rose T, Hornberger LK.

Am J Med Genet. 2000 Feb 14;90(4):270-5.

PMID:
10710222
16.

Mechanical stretch stimulates growth of vascular smooth muscle cells via epidermal growth factor receptor.

Iwasaki H, Eguchi S, Ueno H, Marumo F, Hirata Y.

Am J Physiol Heart Circ Physiol. 2000 Feb;278(2):H521-9.

17.

Skin elastic fibers in Williams syndrome.

Dridi SM, Ghomrasseni S, Bonnet D, Aggoun Y, Vabres P, Bodemer C, Lyonnet S, de Prost Y, Fraitag S, Pellat B, Sidi D, Godeau G.

Am J Med Genet. 1999 Nov 19;87(2):134-8.

PMID:
10533027
18.

Williams-Beuren syndrome: genes and mechanisms.

Francke U.

Hum Mol Genet. 1999;8(10):1947-54. Review.

PMID:
10469848
19.
20.

Elastin: molecular description and function.

Debelle L, Tamburro AM.

Int J Biochem Cell Biol. 1999 Feb;31(2):261-72. Review.

PMID:
10216959

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