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Nosology of genetic skeletal disorders: 2023 revision.
Unger S, Ferreira CR, Mortier GR, Ali H, Bertola DR, Calder A, Cohn DH, Cormier-Daire V, Girisha KM, Hall C, Krakow D, Makitie O, Mundlos S, Nishimura G, Robertson SP, Savarirayan R, Sillence D, Simon M, Sutton VR, Warman ML, Superti-Furga A. Unger S, et al. Among authors: savarirayan r. Am J Med Genet A. 2023 May;191(5):1164-1209. doi: 10.1002/ajmg.a.63132. Epub 2023 Feb 13. Am J Med Genet A. 2023. PMID: 36779427 Free PMC article.
New mesomelic dysplasia with absent fibulae and triangular tibiae.
Savarirayan R, Cormier-Daire V, Curry CJ, Nashelsky MB, Rappaport V, Rimoin DL, Lachman RS. Savarirayan R, et al. Am J Med Genet. 2000 Sep 4;94(1):59-63. doi: 10.1002/1096-8628(20000904)94:1<59::aid-ajmg12>3.0.co;2-2. Am J Med Genet. 2000. PMID: 10982484
"Baby rattle" pelvis dysplasia.
Cormier-Daire V, Savarirayan R, Lachman RS, Neidich JA, Grace K, Rimoin DL, Wilcox WR. Cormier-Daire V, et al. Among authors: savarirayan r. Am J Med Genet. 2001 Apr 15;100(1):37-42. Am J Med Genet. 2001. PMID: 11337746
Phenotypic variability at the TGF-beta1 locus in Camurati-Engelmann disease.
Campos-Xavier B, Saraiva JM, Savarirayan R, Verloes A, Feingold J, Faivre L, Munnich A, Le Merrer M, Cormier-Daire V. Campos-Xavier B, et al. Among authors: savarirayan r. Hum Genet. 2001 Dec;109(6):653-8. doi: 10.1007/s00439-001-0644-8. Epub 2001 Nov 9. Hum Genet. 2001. PMID: 11810278
The mutational spectrum of brachydactyly type C.
Everman DB, Bartels CF, Yang Y, Yanamandra N, Goodman FR, Mendoza-Londono JR, Savarirayan R, White SM, Graham JM Jr, Gale RP, Svarch E, Newman WG, Kleckers AR, Francomano CA, Govindaiah V, Singh L, Morrison S, Thomas JT, Warman ML. Everman DB, et al. Among authors: savarirayan r. Am J Med Genet. 2002 Oct 15;112(3):291-6. doi: 10.1002/ajmg.10777. Am J Med Genet. 2002. PMID: 12357473
216 results