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Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction.
Izzi B, Francois I, Labarque V, Thys C, Wittevrongel C, Devriendt K, Legius E, Van den Bruel A, D'Hooghe M, Lambrechts D, de Zegher F, Van Geet C, Freson K. Izzi B, et al. Among authors: labarque v. PLoS One. 2012;7(6):e38579. doi: 10.1371/journal.pone.0038579. Epub 2012 Jun 5. PLoS One. 2012. PMID: 22679513 Free PMC article.
Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia.
Bariana TK, Labarque V, Heremans J, Thys C, De Reys M, Greene D, Jenkins B, Grassi L, Seyres D, Burden F, Whitehorn D, Shamardina O, Papadia S, Gomez K, BioResource N, Van Geet C, Koulman A, Ouwehand WH, Ghevaert C, Frontini M, Turro E, Freson K. Bariana TK, et al. Among authors: labarque v. Haematologica. 2019 May;104(5):1036-1045. doi: 10.3324/haematol.2018.204784. Epub 2018 Nov 22. Haematologica. 2019. PMID: 30467204 Free PMC article.
70 results