Vanakker OM - Search Results

1

Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability.

Oehl-Jaschkowitz B, Vanakker OM, De Paepe A, Menten B, Martin T, Weber G, Christmann A, Krier R, Scheid S, McNerlan SE, McKee S, Tzschach A. Oehl-Jaschkowitz B, et al. Among authors: vanakker om. Am J Med Genet A. 2014 Mar;164A(3):620-6. doi: 10.1002/ajmg.a.36321. Epub 2013 Dec 19. Am J Med Genet A. 2014. PMID: 24357125

2

Inorganic Pyrophosphate Plasma Levels Are Decreased in Pseudoxanthoma Elasticum Patients and Heterozygous Carriers but Do Not Correlate with the Genotype or Phenotype.

Van Gils M, Depauw J, Coucke PJ, Aerts S, Verschuere S, Nollet L, Vanakker OM. Van Gils M, et al. Among authors: vanakker om. J Clin Med. 2023 Feb 27;12(5):1893. doi: 10.3390/jcm12051893. J Clin Med. 2023. PMID: 36902680 Free PMC article.

3

C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD.

Ervilha Pereira P, Schuermans N, Meylemans A, LeBlanc P, Versluys L, Copley KE, Rubien JD, Altheimer C, Peetermans M, Debackere E, Vanakker O, Janssens S, Baets J, Verhoeven K, Lammens M, Symoens S, De Paepe B, Barmada SJ, Shorter J, De Bleecker JL, Bogaert E, Dermaut B. Ervilha Pereira P, et al. Acta Neuropathol. 2023 Jun;145(6):793-814. doi: 10.1007/s00401-023-02565-1. Epub 2023 Mar 31. Acta Neuropathol. 2023. PMID: 37000196 Free PMC article.

4

Mitochondrial Dysfunction and Oxidative Stress in Hereditary Ectopic Calcification Diseases.

Nollet LL, Vanakker OM. Nollet LL, et al. Among authors: vanakker om. Int J Mol Sci. 2022 Dec 4;23(23):15288. doi: 10.3390/ijms232315288. Int J Mol Sci. 2022. PMID: 36499615 Free PMC article. Review.

5

Significance of Premature Vertebral Mineralization in Zebrafish Models in Mechanistic and Pharmaceutical Research on Hereditary Multisystem Diseases.

Van Wynsberghe J, Vanakker OM. Van Wynsberghe J, et al. Among authors: vanakker om. Biomolecules. 2023 Nov 6;13(11):1621. doi: 10.3390/biom13111621. Biomolecules. 2023. PMID: 38002303 Free PMC article. Review.

6

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: vanakker om. 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.

7

The Activation of JAK/STAT3 Signaling and the Complement System Modulate Inflammation in the Primary Human Dermal Fibroblasts of PXE Patients.

Lindenkamp C, Plümers R, Osterhage MR, Vanakker OM, Van Wynsberghe J, Knabbe C, Hendig D. Lindenkamp C, et al. Among authors: vanakker om. Biomedicines. 2023 Sep 29;11(10):2673. doi: 10.3390/biomedicines11102673. Biomedicines. 2023. PMID: 37893046 Free PMC article.

8

Methylation signatures in clinically variable syndromic disorders: a familial DNMT3A variant in two adults with Tatton-Brown-Rahman syndrome.

Kumps C, D'haenens E, Kerkhof J, McConkey H, Alders M, Sadikovic B, Vanakker OM. Kumps C, et al. Among authors: vanakker om. Eur J Hum Genet. 2023 Dec;31(12):1350-1354. doi: 10.1038/s41431-023-01459-w. Epub 2023 Sep 22. Eur J Hum Genet. 2023. PMID: 37736838 Free PMC article. No abstract available.

9

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

10

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.

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