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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: savarirayan r. 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.
Craniosynostosis in Roberts syndrome.
Savarirayan R, Thompson EM. Savarirayan R, et al. Clin Dysmorphol. 1997 Apr;6(2):181-2. Clin Dysmorphol. 1997. PMID: 9134301 No abstract available.
Familial digital arthropathy-brachydactyly.
Amor DJ, Tudball C, Gardner RJ, Lamandé SR, Bateman JF, Savarirayan R. Amor DJ, et al. Among authors: savarirayan r. Am J Med Genet. 2002 Mar 15;108(3):235-40. doi: 10.1002/ajmg.10269. Am J Med Genet. 2002. PMID: 11891693
Molecular analysis for genetic counselling in amelogenesis imperfecta.
Aldred MJ, Hall RK, Kilpatrick N, Bankier A, Savarirayan R, Lamandé SR, Lench NJ, Crawford PJ. Aldred MJ, et al. Among authors: savarirayan r. Oral Dis. 2002 Sep;8(5):249-53. doi: 10.1034/j.1601-0825.2002.02835.x. Oral Dis. 2002. PMID: 12363109
The skeletal dysplasias.
Savarirayan R, Rimoin DL. Savarirayan R, et al. Best Pract Res Clin Endocrinol Metab. 2002 Sep;16(3):547-60. doi: 10.1053/beem.2002.0210. Best Pract Res Clin Endocrinol Metab. 2002. PMID: 12464233 Review.
223 results