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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
Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11.
Bartsch O, Wuyts W, Van Hul W, Hecht JT, Meinecke P, Hogue D, Werner W, Zabel B, Hinkel GK, Powell CM, Shaffer LG, Willems PJ. Bartsch O, et al. Among authors: van hul w. Am J Hum Genet. 1996 Apr;58(4):734-42. Am J Hum Genet. 1996. PMID: 8644736 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
253 results