Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2008 | 1 |
2009 | 1 |
2017 | 1 |
2020 | 1 |
2021 | 4 |
2022 | 2 |
2024 | 0 |
Search Results
6 results
Results by year
Filters applied: . Clear all
Page 1
Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes.
J Invest Dermatol. 2009 Mar;129(3):553-63. doi: 10.1038/jid.2008.271. Epub 2008 Sep 18.
J Invest Dermatol. 2009.
PMID: 18800149
Free PMC article.
GGCX-Associated Phenotypes: An Overview in Search of Genotype-Phenotype Correlations.
De Vilder EY, Debacker J, Vanakker OM.
De Vilder EY, et al.
Int J Mol Sci. 2017 Jan 25;18(2):240. doi: 10.3390/ijms18020240.
Int J Mol Sci. 2017.
PMID: 28125048
Free PMC article.
Review.
Item in Clipboard
GGCX mutations in a patient with overlapping pseudoxanthoma elasticum/cutis laxa-like phenotype.
Li D, Ryu E, Saeidian AH, Youssefian L, Oliphant E, Terry SF, Tong PL, Uitto J, Haass NK, Li Q.
Li D, et al.
Br J Dermatol. 2021 Jun;184(6):1170-1174. doi: 10.1111/bjd.19576. Epub 2020 Nov 8.
Br J Dermatol. 2021.
PMID: 33000479
Free PMC article.
Item in Clipboard
Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort.
Saeidian AH, Youssefian L, Huang J, Touati A, Vahidnezhad H, Kowal L, Caffet M, Wurst T, Singh J, Snook AE, Ryu E, Fortina P, Terry SF, Schoenecker JG, Uitto J, Li Q.
Saeidian AH, et al.
Genet Med. 2022 Jan;24(1):75-86. doi: 10.1016/j.gim.2021.08.011. Epub 2021 Nov 30.
Genet Med. 2022.
PMID: 34906475
Free PMC article.
Item in Clipboard
γ-Glutamyl carboxylase mutations differentially affect the biological function of vitamin K-dependent proteins.
Hao Z, Jin DY, Chen X, Schurgers LJ, Stafford DW, Tie JK.
Hao Z, et al.
Blood. 2021 Jan 28;137(4):533-543. doi: 10.1182/blood.2020006329.
Blood. 2021.
PMID: 33507293
Free PMC article.
Item in Clipboard
GGCX variants leading to biallelic deficiency to γ-carboxylate GRP cause skin laxity in VKCFD1 patients.
Ghosh S, Kraus K, Biswas A, Müller J, Forin F, Singer H, Höning K, Hornung V, Watzka M, Oldenburg J, Czogalla-Nitsche KJ.
Ghosh S, et al.
Hum Mutat. 2022 Jan;43(1):42-55. doi: 10.1002/humu.24300. Epub 2021 Dec 2.
Hum Mutat. 2022.
PMID: 34816548
Item in Clipboard
Cite
Cite