Vanakker OM - Search Results

1

Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc.

Verschuere S, Navassiolava N, Martin L, Nevalainen PI, Coucke PJ, Vanakker OM. Verschuere S, et al. Among authors: vanakker om. Genet Med. 2021 Jan;23(1):131-139. doi: 10.1038/s41436-020-00945-6. Epub 2020 Sep 2. Genet Med. 2021. PMID: 32873932 Free article.

2

Visceral and testicular calcifications as part of the phenotype in pseudoxanthoma elasticum: ultrasound findings in Belgian patients and healthy carriers.

Vanakker OM, Voet D, Petrovic M, van Robaeys F, Leroy BP, Coucke P, de Paepe A. Vanakker OM, et al. Br J Radiol. 2006 Mar;79(939):221-5. doi: 10.1259/bjr/20801330. Br J Radiol. 2006. PMID: 16498034

3

Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity.

Vanakker OM, Martin L, Gheduzzi D, Leroy BP, Loeys BL, Guerci VI, Matthys D, Terry SF, Coucke PJ, Pasquali-Ronchetti I, De Paepe A. Vanakker OM, et al. J Invest Dermatol. 2007 Mar;127(3):581-7. doi: 10.1038/sj.jid.5700610. Epub 2006 Nov 16. J Invest Dermatol. 2007. PMID: 17110937 Free article.

4

Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.

Pfendner EG, Vanakker OM, Terry SF, Vourthis S, McAndrew PE, McClain MR, Fratta S, Marais AS, Hariri S, Coucke PJ, Ramsay M, Viljoen D, Terry PF, De Paepe A, Uitto J, Bercovitch LG. Pfendner EG, et al. Among authors: vanakker om. J Med Genet. 2007 Oct;44(10):621-8. doi: 10.1136/jmg.2007.051094. Epub 2007 Jul 6. J Med Genet. 2007. PMID: 17617515 Free PMC article.

5

Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?

Audo I, Vanakker OM, Smith A, Leroy BP, Robson AG, Jenkins SA, Coucke PJ, Bird AC, De Paepe A, Holder GE, Webster AR. Audo I, et al. Among authors: vanakker om. Invest Ophthalmol Vis Sci. 2007 Sep;48(9):4250-6. doi: 10.1167/iovs.05-1604. Invest Ophthalmol Vis Sci. 2007. PMID: 17724214

6

Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart.

Vanakker OM, Leroy BP, Coucke P, Bercovitch LG, Uitto J, Viljoen D, Terry SF, Van Acker P, Matthys D, Loeys B, De Paepe A. Vanakker OM, et al. Hum Mutat. 2008 Jan;29(1):205. doi: 10.1002/humu.9514. Hum Mutat. 2008. PMID: 18157818

7

Added value of infrared, red-free and autofluorescence fundus imaging in pseudoxanthoma elasticum.

De Zaeytijd J, Vanakker OM, Coucke PJ, De Paepe A, De Laey JJ, Leroy BP. De Zaeytijd J, et al. Among authors: vanakker om. Br J Ophthalmol. 2010 Apr;94(4):479-86. doi: 10.1136/bjo.2009.162644. Epub 2009 Sep 1. Br J Ophthalmol. 2010. PMID: 19726431

8

Low serum vitamin K in PXE results in defective carboxylation of mineralization inhibitors similar to the GGCX mutations in the PXE-like syndrome.

Vanakker OM, Martin L, Schurgers LJ, Quaglino D, Costrop L, Vermeer C, Pasquali-Ronchetti I, Coucke PJ, De Paepe A. Vanakker OM, et al. Lab Invest. 2010 Jun;90(6):895-905. doi: 10.1038/labinvest.2010.68. Epub 2010 Apr 5. Lab Invest. 2010. PMID: 20368697 Free article.

9

Functional polymorphism in gamma-glutamylcarboxylase is a risk factor for severe neonatal hemorrhage.

Vanakker OM, De Coen K, Costrop L, Coucke PJ, Vanhaesebrouck P, De Paepe A. Vanakker OM, et al. J Pediatr. 2011 Aug;159(2):347-9. doi: 10.1016/j.jpeds.2011.04.044. Epub 2011 Jun 24. J Pediatr. 2011. PMID: 21704322

10

Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa: evidence for a spectrum of ectopic calcification disorders?

Vanakker OM, Leroy BP, Schurgers LJ, Vermeer C, Coucke PJ, De Paepe A. Vanakker OM, et al. Am J Med Genet A. 2011 Nov;155A(11):2855-9. doi: 10.1002/ajmg.a.34264. Epub 2011 Sep 30. Am J Med Genet A. 2011. PMID: 21964806

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

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

96 results

Search Page