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RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas.
Oliver GR, Blackburn PR, Ellingson MS, Conboy E, Pinto E Vairo F, Webley M, Thorland E, Ferber M, Van Hul E, van der Werf IM, Wuyts W, Babovic-Vuksanovic D, Klee EW. Oliver GR, et al. Among authors: van hul e. Mol Genet Genomic Med. 2019 Mar;7(3):e00560. doi: 10.1002/mgg3.560. Epub 2019 Jan 10. Mol Genet Genomic Med. 2019. PMID: 30632316 Free PMC article.
Mutation screening of EXT1 and EXT2 by denaturing high-performance liquid chromatography, direct sequencing analysis, fluorescence in situ hybridization, and a new multiplex ligation-dependent probe amplification probe set in patients with multiple osteochondromas.
Jennes I, Entius MM, Van Hul E, Parra A, Sangiorgi L, Wuyts W. Jennes I, et al. Among authors: van hul e. J Mol Diagn. 2008 Jan;10(1):85-92. doi: 10.2353/jmoldx.2008.070086. Epub 2007 Dec 28. J Mol Diagn. 2008. PMID: 18165274 Free PMC article.
Positional cloning of a gene involved in hereditary multiple exostoses.
Wuyts W, Van Hul W, Wauters J, Nemtsova M, Reyniers E, Van Hul EV, De Boulle K, de Vries BB, Hendrickx J, Herrygers I, Bossuyt P, Balemans W, Fransen E, Vits L, Coucke P, Nowak NJ, Shows TB, Mallet L, van den Ouweland AM, McGaughran J, Halley DJ, Willems PJ. Wuyts W, et al. Among authors: van hul ev, van den ouweland am, van hul w. Hum Mol Genet. 1996 Oct;5(10):1547-57. doi: 10.1093/hmg/5.10.1547. Hum Mol Genet. 1996. PMID: 8894688
Clinical and molecular studies of EXT1/EXT2 in Bulgaria.
Stancheva-Ivanova MK, Wuyts W, van Hul E, Radeva BI, Vazharova RV, Sokolov TP, Vladimirov BY, Apostolova MD, Kremensky IM. Stancheva-Ivanova MK, et al. Among authors: van hul e. J Inherit Metab Dis. 2011 Aug;34(4):917-21. doi: 10.1007/s10545-011-9314-8. Epub 2011 Apr 16. J Inherit Metab Dis. 2011. PMID: 21499719
Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST).
Balemans W, Ebeling M, Patel N, Van Hul E, Olson P, Dioszegi M, Lacza C, Wuyts W, Van Den Ende J, Willems P, Paes-Alves AF, Hill S, Bueno M, Ramos FJ, Tacconi P, Dikkers FG, Stratakis C, Lindpaintner K, Vickery B, Foernzler D, Van Hul W. Balemans W, et al. Among authors: van hul e, van den ende j, van hul w. Hum Mol Genet. 2001 Mar 1;10(5):537-43. doi: 10.1093/hmg/10.5.537. Hum Mol Genet. 2001. PMID: 11181578
Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13.
Janssens K, Gershoni-Baruch R, Van Hul E, Brik R, Guañabens N, Migone N, Verbruggen LA, Ralston SH, Bonduelle M, Van Maldergem L, Vanhoenacker F, Van Hul W. Janssens K, et al. Among authors: van hul e, van maldergem l, van hul w. J Med Genet. 2000 Apr;37(4):245-9. doi: 10.1136/jmg.37.4.245. J Med Genet. 2000. PMID: 10745041 Free PMC article.
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