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Page 1
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
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.
Nosology and classification of genetic skeletal disorders: 2015 revision.
Bonafe L, Cormier-Daire V, Hall C, Lachman R, Mortier G, Mundlos S, Nishimura G, Sangiorgi L, Savarirayan R, Sillence D, Spranger J, Superti-Furga A, Warman M, Unger S. Bonafe L, et al. Among authors: spranger j. Am J Med Genet A. 2015 Dec;167A(12):2869-92. doi: 10.1002/ajmg.a.37365. Epub 2015 Sep 23. Am J Med Genet A. 2015. PMID: 26394607
Confirmation of spondylo-epi-metaphyseal dysplasia with joint laxity, EXOC6B type.
Campos-Xavier B, Rogers RC, Niel-Bütschi F, Ferreira C, Unger S, Spranger J, Superti-Furga A. Campos-Xavier B, et al. Among authors: spranger j. Am J Med Genet A. 2018 Dec;176(12):2934-2935. doi: 10.1002/ajmg.a.40631. Epub 2018 Oct 4. Am J Med Genet A. 2018. PMID: 30284759 No abstract available.
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.
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.
BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.
Cho SY, Bae JS, Kim NKD, Forzano F, Girisha KM, Baldo C, Faravelli F, Cho TJ, Kim D, Lee KY, Ikegawa S, Shim JS, Ko AR, Miyake N, Nishimura G, Superti-Furga A, Spranger J, Kim OH, Park WY, Jin DK. Cho SY, et al. Among authors: spranger j. Am J Hum Genet. 2016 Jun 2;98(6):1243-1248. doi: 10.1016/j.ajhg.2016.04.004. Epub 2016 May 26. Am J Hum Genet. 2016. PMID: 27236923 Free PMC article.
610 results