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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: spranger j. 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.
Enchondromatosis revisited: new classification with molecular basis.
Superti-Furga A, Spranger J, Nishimura G. Superti-Furga A, et al. Among authors: spranger j. Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):154-64. doi: 10.1002/ajmg.c.31331. Epub 2012 Jul 12. Am J Med Genet C Semin Med Genet. 2012. PMID: 22791316 Review.
The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia.
Winterpacht A, Superti-Furga A, Schwarze U, Stöss H, Steinmann B, Spranger J, Zabel B. Winterpacht A, et al. Among authors: spranger j. J Med Genet. 1996 Aug;33(8):649-54. doi: 10.1136/jmg.33.8.649. J Med Genet. 1996. PMID: 8863156 Free PMC article.
Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia.
Giedion A, Boltshauser E, Briner J, Eich G, Exner G, Fendel H, Kaufmann L, Steinmann B, Spranger J, Superti-Furga A. Giedion A, et al. Among authors: spranger j. Eur J Pediatr. 1997 Mar;156(3):214-23. doi: 10.1007/s004310050587. Eur J Pediatr. 1997. PMID: 9083764
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: spranger j. 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
610 results