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

30 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Severe early-onset manifestations of pseudoxanthoma elasticum resulting from the cumulative effects of several deleterious mutations in ENPP1, ABCC6 and HBB: transient improvement in ectopic calcification with sodium thiosulfate.
Omarjee L, Nitschke Y, Verschuere S, Bourrat E, Vignon MD, Navasiolava N, Leftheriotis G, Kauffenstein G, Rutsch F, Vanakker OM, Martin L. Omarjee L, et al. Among authors: verschuere s. Br J Dermatol. 2020 Aug;183(2):367-372. doi: 10.1111/bjd.18632. Epub 2019 Dec 22. Br J Dermatol. 2020. PMID: 31646622 Free article.
Genotype-phenotype correlation in pseudoxanthoma elasticum.
Bartstra JW, Risseeuw S, de Jong PA, van Os B, Kalsbeek L, Mol C, Baas AF, Verschuere S, Vanakker O, Florijn RJ, Hendrikse J, Mali W, Imhof S, Ossewaarde-van Norel J, van Leeuwen R, Spiering W. Bartstra JW, et al. Among authors: verschuere s. Atherosclerosis. 2021 May;324:18-26. doi: 10.1016/j.atherosclerosis.2021.03.012. Epub 2021 Mar 13. Atherosclerosis. 2021. PMID: 33812167 Free article.
The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals.
Szeri F, Miko A, Navasiolava N, Kaposi A, Verschuere S, Molnar B, Li Q, Terry SF, Boraldi F, Uitto J, van de Wetering K, Martin L, Quaglino D, Vanakker OM, Tory K, Aranyi T. Szeri F, et al. Among authors: verschuere s. Hum Mutat. 2022 Dec;43(12):1872-1881. doi: 10.1002/humu.24498. Epub 2022 Nov 15. Hum Mutat. 2022. PMID: 36317459 Free PMC article.
30 results