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A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.
Terhal PA, Nievelstein RJ, Verver EJ, Topsakal V, van Dommelen P, Hoornaert K, Le Merrer M, Zankl A, Simon ME, Smithson SF, Marcelis C, Kerr B, Clayton-Smith J, Kinning E, Mansour S, Elmslie F, Goodwin L, van der Hout AH, Veenstra-Knol HE, Herkert JC, Lund AM, Hennekam RC, Mégarbané A, Lees MM, Wilson LC, Male A, Hurst J, Alanay Y, Annerén G, Betz RC, Bongers EM, Cormier-Daire V, Dieux A, David A, Elting MW, van den Ende J, Green A, van Hagen JM, Hertel NT, Holder-Espinasse M, den Hollander N, Homfray T, Hove HD, Price S, Raas-Rothschild A, Rohrbach M, Schroeter B, Suri M, Thompson EM, Tobias ES, Toutain A, Vreeburg M, Wakeling E, Knoers NV, Coucke P, Mortier GR. Terhal PA, et al. Among authors: van der hout ah, van dommelen p, van hagen jm, van den ende j. Am J Med Genet A. 2015 Mar;167A(3):461-75. doi: 10.1002/ajmg.a.36922. Epub 2015 Jan 21. Am J Med Genet A. 2015. PMID: 25604898
Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.
Terhal PA, van Dommelen P, Le Merrer M, Zankl A, Simon ME, Smithson SF, Marcelis C, Kerr B, Kinning E, Mansour S, Hennekam RC, van der Hout AH, Cormier-Daire V, Lund AM, Goodwin L, Mégarbané A, Lees M, Betz RC, Tobias ES, Coucke P, Mortier GR. Terhal PA, et al. Among authors: van der hout ah, van dommelen p. Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):205-16. doi: 10.1002/ajmg.c.31332. Epub 2012 Jul 12. Am J Med Genet C Semin Med Genet. 2012. PMID: 22791362
Association between head circumference and body size.
Geraedts EJ, van Dommelen P, Caliebe J, Visser R, Ranke MB, van Buuren S, Wit JM, Oostdijk W. Geraedts EJ, et al. Among authors: van dommelen p, van buuren s. Horm Res Paediatr. 2011;75(3):213-9. doi: 10.1159/000321192. Epub 2011 Feb 10. Horm Res Paediatr. 2011. PMID: 21311161
113 results