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TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families.
Andreucci E, Aftimos S, Alcausin M, Haan E, Hunter W, Kannu P, Kerr B, McGillivray G, McKinlay Gardner RJ, Patricelli MG, Sillence D, Thompson E, Zacharin M, Zankl A, Lamandé SR, Savarirayan R. Andreucci E, et al. Among authors: thompson e. Orphanet J Rare Dis. 2011 Jun 9;6:37. doi: 10.1186/1750-1172-6-37. Orphanet J Rare Dis. 2011. PMID: 21658220 Free PMC article.
Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400).
Savarirayan R, Thompson E, Gécz J. Savarirayan R, et al. Among authors: thompson e. Eur J Hum Genet. 2003 Sep;11(9):639-42. doi: 10.1038/sj.ejhg.5201025. Eur J Hum Genet. 2003. PMID: 12939648
Craniosynostosis in Roberts syndrome.
Savarirayan R, Thompson EM. Savarirayan R, et al. Among authors: thompson em. Clin Dysmorphol. 1997 Apr;6(2):181-2. Clin Dysmorphol. 1997. PMID: 9134301 No abstract available.
Functional performance in young Australian children with achondroplasia.
Ireland PJ, McGill J, Zankl A, Ware RS, Pacey V, Ault J, Savarirayan R, Sillence D, Thompson EM, Townshend S, Johnston LM. Ireland PJ, et al. Dev Med Child Neurol. 2011 Oct;53(10):944-50. doi: 10.1111/j.1469-8749.2011.04050.x. Epub 2011 Aug 12. Dev Med Child Neurol. 2011. PMID: 21838822 Free article.
Development in children with achondroplasia: a prospective clinical cohort study.
Ireland PJ, Donaghey S, McGill J, Zankl A, Ware RS, Pacey V, Ault J, Savarirayan R, Sillence D, Thompson E, Townshend S, Johnston LM. Ireland PJ, et al. Among authors: thompson e. Dev Med Child Neurol. 2012 Jun;54(6):532-7. doi: 10.1111/j.1469-8749.2012.04234.x. Epub 2012 Mar 12. Dev Med Child Neurol. 2012. PMID: 22409389 Free article.
4,174 results