Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

83 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa.
Callewaert B, Su CT, Van Damme T, Vlummens P, Malfait F, Vanakker O, Schulz B, Mac Neal M, Davis EC, Lee JG, Salhi A, Unger S, Heimdal K, De Almeida S, Kornak U, Gaspar H, Bresson JL, Prescott K, Gosendi ME, Mansour S, Piérard GE, Madan-Khetarpal S, Sciurba FC, Symoens S, Coucke PJ, Van Maldergem L, Urban Z, De Paepe A. Callewaert B, et al. Among authors: urban z. Hum Mutat. 2013 Jan;34(1):111-21. doi: 10.1002/humu.22165. Epub 2012 Aug 13. Hum Mutat. 2013. PMID: 22829427 Free PMC article.
Biomechanical properties of the skin in cutis laxa.
Kozel BA, Su CT, Danback JR, Minster RL, Madan-Khetarpal S, McConnell JS, Mac Neal MK, Levine KL, Wilson RC, Sciurba FC, Urban Z. Kozel BA, et al. Among authors: urban z. J Invest Dermatol. 2014 Nov;134(11):2836-2838. doi: 10.1038/jid.2014.224. Epub 2014 May 20. J Invest Dermatol. 2014. PMID: 24844858 Free PMC article. No abstract available.
LTBP4 in Health and Disease.
Su CT, Urban Z. Su CT, et al. Among authors: urban z. Genes (Basel). 2021 May 23;12(6):795. doi: 10.3390/genes12060795. Genes (Basel). 2021. PMID: 34071145 Free PMC article. Review.
Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxa.
Mohamed M, Gardeitchik T, Balasubramaniam S, Guerrero-Castillo S, Dalloyaux D, van Kraaij S, Venselaar H, Hoischen A, Urban Z, Brandt U, Al-Shawi R, Simons JP, Frison M, Ngu LH, Callewaert B, Spelbrink H, Kallemeijn WW, Aerts JMFG, Waugh MG, Morava E, Wevers RA. Mohamed M, et al. Among authors: urban z. J Inherit Metab Dis. 2020 Nov;43(6):1382-1391. doi: 10.1002/jimd.12255. Epub 2020 Jun 26. J Inherit Metab Dis. 2020. PMID: 32418222 Free PMC article.
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.
Kornak U, Reynders E, Dimopoulou A, van Reeuwijk J, Fischer B, Rajab A, Budde B, Nürnberg P, Foulquier F; ARCL Debré-type Study Group; Lefeber D, Urban Z, Gruenewald S, Annaert W, Brunner HG, van Bokhoven H, Wevers R, Morava E, Matthijs G, Van Maldergem L, Mundlos S. Kornak U, et al. Among authors: urban z. Nat Genet. 2008 Jan;40(1):32-4. doi: 10.1038/ng.2007.45. Epub 2007 Dec 23. Nat Genet. 2008. PMID: 18157129
83 results