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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. 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.
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
Another cause of hyperglyceroluria: aquaporin 7 gene mutation.
Jaeken J, Goubau C, Buyse GM, Goemans N, Levtchenko EN. Jaeken J, et al. Among authors: buyse gm. J Pediatr Gastroenterol Nutr. 2013 Sep;57(3):e19. doi: 10.1097/MPG.0b013e31829a4ff3. J Pediatr Gastroenterol Nutr. 2013. PMID: 23666457 No abstract available.
CINRG pilot trial of oxatomide in steroid-naïve Duchenne muscular dystrophy.
Buyse GM, Goemans N, Henricson E, Jara A, van den Hauwe M, Leshner R, Florence JM, Mayhew JE, Escolar DM. Buyse GM, et al. Eur J Paediatr Neurol. 2007 Nov;11(6):337-40. doi: 10.1016/j.ejpn.2007.02.009. Epub 2007 Apr 24. Eur J Paediatr Neurol. 2007. PMID: 17459739 Clinical Trial.
71 results