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Page 1
Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12.
Goubau C, Devriendt K, Van der Aa N, Crepel A, Wieczorek D, Kleefstra T, Willemsen MH, Rauch A, Tzschach A, de Ravel T, Leemans P, Van Geet C, Buyse G, Freson K. Goubau C, et al. Among authors: buyse g. Eur J Hum Genet. 2013 Dec;21(12):1349-55. doi: 10.1038/ejhg.2013.86. Epub 2013 May 1. Eur J Hum Genet. 2013. PMID: 23632790 Free PMC article.
Functional studies and proteomics in platelets and fibroblasts reveal a lysosomal defect with increased cathepsin-dependent apoptosis in ATP1A3 defective alternating hemiplegia of childhood.
Di Michele M, Goubau C, Waelkens E, Thys C, De Vos R, Overbergh L, Schyns T, Buyse G, Casaer P, Van Geet C, Freson K. Di Michele M, et al. Among authors: buyse g. J Proteomics. 2013 Jun 28;86:53-69. doi: 10.1016/j.jprot.2013.05.005. Epub 2013 May 13. J Proteomics. 2013. PMID: 23681173
Unravelling the disease mechanism for TSPYL1 deficiency.
Buyse G, Di Michele M, Wijgaerts A, Louwette S, Wittevrongel C, Thys C, Downes K, Ceulemans B, Van Esch H, Van Geet C, Freson K. Buyse G, et al. Hum Mol Genet. 2020 Dec 18;29(20):3431-3442. doi: 10.1093/hmg/ddaa233. Hum Mol Genet. 2020. PMID: 33075815 Free article.
Left-ventricular non-compaction in a patient with monosomy 1p36.
Thienpont B, Mertens L, Buyse G, Vermeesch JR, Devriendt K. Thienpont B, et al. Among authors: buyse g. Eur J Med Genet. 2007 May-Jun;50(3):233-6. doi: 10.1016/j.ejmg.2007.01.002. Epub 2007 Jan 27. Eur J Med Genet. 2007. PMID: 17337261
Another cause of hyperglyceroluria: aquaporin 7 gene mutation.
Jaeken J, Goubau C, Buyse GM, Goemans N, Levtchenko EN. Jaeken J, et al. J Pediatr Gastroenterol Nutr. 2013 Sep;57(3):e19. doi: 10.1097/MPG.0b013e31829a4ff3. J Pediatr Gastroenterol Nutr. 2013. PMID: 23666457 No abstract available.
94 results