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Page 1
Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia.
Zankl A, Jackson GC, Crettol LM, Taylor J, Elles R, Mortier GR, Spranger J, Zabel B, Unger S, Merrer ML, Cormier-Daire V, Hall CM, Wright MJ, Bonafe L, Superti-Furga A, Briggs MD. Zankl A, et al. Among authors: zabel b. Eur J Hum Genet. 2007 Feb;15(2):150-4. doi: 10.1038/sj.ejhg.5201744. Epub 2006 Nov 29. Eur J Hum Genet. 2007. PMID: 17133256 Free PMC article.
Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.
Jackson GC, Mittaz-Crettol L, Taylor JA, Mortier GR, Spranger J, Zabel B, Le Merrer M, Cormier-Daire V, Hall CM, Offiah A, Wright MJ, Savarirayan R, Nishimura G, Ramsden SC, Elles R, Bonafe L, Superti-Furga A, Unger S, Zankl A, Briggs MD. Jackson GC, et al. Among authors: zabel b. Hum Mutat. 2012 Jan;33(1):144-57. doi: 10.1002/humu.21611. Epub 2011 Oct 31. Hum Mutat. 2012. PMID: 21922596 Free PMC article.
Clinical and radiographic delineation of odontochondrodysplasia.
Unger S, Antoniazzi F, Brugnara M, Alanay Y, Caglayan A, Lachlan K, Ikegawa S, Nishimura G, Zabel B, Spranger J, Superti-Furga A. Unger S, et al. Among authors: zabel b. Am J Med Genet A. 2008 Mar 15;146A(6):770-8. doi: 10.1002/ajmg.a.32214. Am J Med Genet A. 2008. PMID: 18241073 Free article.
The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.
Gedeon AK, Tiller GE, Le Merrer M, Heuertz S, Tranebjaerg L, Chitayat D, Robertson S, Glass IA, Savarirayan R, Cole WG, Rimoin DL, Kousseff BG, Ohashi H, Zabel B, Munnich A, Gecz J, Mulley JC. Gedeon AK, et al. Among authors: zabel b. Am J Hum Genet. 2001 Jun;68(6):1386-97. doi: 10.1086/320592. Epub 2001 May 8. Am J Hum Genet. 2001. PMID: 11349230 Free PMC article.
Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.
Hermanns P, Unger S, Rossi A, Perez-Aytes A, Cortina H, Bonafé L, Boccone L, Setzu V, Dutoit M, Sangiorgi L, Pecora F, Reicherter K, Nishimura G, Spranger J, Zabel B, Superti-Furga A. Hermanns P, et al. Among authors: zabel b. Am J Hum Genet. 2008 Jun;82(6):1368-74. doi: 10.1016/j.ajhg.2008.05.006. Am J Hum Genet. 2008. PMID: 18513679 Free PMC article.
Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.
Nishimura G, Dai J, Lausch E, Unger S, Megarbané A, Kitoh H, Kim OH, Cho TJ, Bedeschi F, Benedicenti F, Mendoza-Londono R, Silengo M, Schmidt-Rimpler M, Spranger J, Zabel B, Ikegawa S, Superti-Furga A. Nishimura G, et al. Among authors: zabel b. Am J Med Genet A. 2010 Jun;152A(6):1443-9. doi: 10.1002/ajmg.a.33414. Am J Med Genet A. 2010. PMID: 20503319
300 results