Literature DB >> 8541862

A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis.

T M Olson1, V V Michels, Z Urban, K Csiszar, A M Christiano, D J Driscoll, R H Feldt, C D Boyd, S N Thibodeau.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1995        PMID： 8541862     DOI： 10.1093/hmg/4.9.1677

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


× No keyword cloud information.
  17 in total

1.  Fluorescent in situ hybridisation (FISH) for hemizygous deletion at the elastin locus in patients with isolated supravalvular aortic stenosis.

Authors:  H Fryssira; R Palmer; K A Hallidie-Smith; J Taylor; D Donnai; W Reardon
Journal:  J Med Genet       Date:  1997-04       Impact factor: 6.318

Review 2.  Williams syndrome starts making sense.

Authors:  J Ashkenas
Journal:  Am J Hum Genet       Date:  1996-10       Impact factor: 11.025

3.  Elastin mutation screening in a group of patients affected by vascular abnormalities.

Authors:  L Rodriguez-Revenga; C Badenas; A Carrió; M Milà
Journal:  Pediatr Cardiol       Date:  2005 Nov-Dec       Impact factor: 1.655

4.  Williams-Beuren syndrome: historical aspects.

Authors:  Walter E Berdon; Patricia M Clarkson; Rita L Teele
Journal:  Pediatr Radiol       Date:  2010-12-01

5.  The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome.

Authors:  Geert Vandeweyer; Nathalie Van der Aa; Edwin Reyniers; R Frank Kooy
Journal:  Am J Hum Genet       Date:  2012-05-17       Impact factor: 11.025

Review 6.  Elastin in large artery stiffness and hypertension.

Authors:  Jessica E Wagenseil; Robert P Mecham
Journal:  J Cardiovasc Transl Res       Date:  2012-06       Impact factor: 4.132

7.  Characterization of an in vitro model of elastic fiber assembly.

Authors:  B W Robb; H Wachi; T Schaub; R P Mecham; E C Davis
Journal:  Mol Biol Cell       Date:  1999-11       Impact factor: 4.138

8.  Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome.

Authors:  Zsolt Urbán; Sheila Riazi; Thomas L Seidl; Jodi Katahira; Leslie B Smoot; David Chitayat; Charles D Boyd; Aleksander Hinek
Journal:  Am J Hum Genet       Date:  2002-05-06       Impact factor: 11.025

9.  Heterogeneity in the Segmental Development of the Aortic Tree: Impact on Management of Genetically Triggered Aortic Aneurysms.

Authors:  Hisham M F Sherif
Journal:  Aorta (Stamford)       Date:  2014-10-01

10.  Novel arterial pathology in mice and humans hemizygous for elastin.

Authors:  D Y Li; G Faury; D G Taylor; E C Davis; W A Boyle; R P Mecham; P Stenzel; B Boak; M T Keating
Journal:  J Clin Invest       Date:  1998-11-15       Impact factor: 14.808
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.