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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
Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics.
Rooms L, Reyniers E, Wuyts W, Storm K, van Luijk R, Scheers S, Wauters J, van den Ende J, Biervliet M, Eyskens F, van Goethem G, Laridon A, Ceulemans B, Courtens W, Kooy RF. Rooms L, et al. Among authors: van goethem g, van luijk r, van den ende j. Clin Genet. 2006 Jan;69(1):58-64. doi: 10.1111/j.1399-0004.2005.00545.x. Clin Genet. 2006. PMID: 16451137
A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene.
Van Camp G, Snoeckx RL, Hilgert N, van den Ende J, Fukuoka H, Wagatsuma M, Suzuki H, Smets RM, Vanhoenacker F, Declau F, Van de Heyning P, Usami S. Van Camp G, et al. Among authors: van den ende j, van de heyning p. Am J Hum Genet. 2006 Sep;79(3):449-57. doi: 10.1086/506478. Epub 2006 Jun 26. Am J Hum Genet. 2006. PMID: 16909383 Free PMC article.
DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System.
Sommen M, Schrauwen I, Vandeweyer G, Boeckx N, Corneveaux JJ, van den Ende J, Boudewyns A, De Leenheer E, Janssens S, Claes K, Verstreken M, Strenzke N, Predöhl F, Wuyts W, Mortier G, Bitner-Glindzicz M, Moser T, Coucke P, Huentelman MJ, Van Camp G. Sommen M, et al. Among authors: van den ende j, van camp g. Hum Mutat. 2016 Aug;37(8):812-9. doi: 10.1002/humu.22999. Epub 2016 May 6. Hum Mutat. 2016. PMID: 27068579
260 results