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Page 1
The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.
Gedeon AK, Tiller GE, Le Merrer M, Heuertz S, Tranebjaerg L, Chitayat D, Robertson S, Glass IA, Savarirayan R, Cole WG, Rimoin DL, Kousseff BG, Ohashi H, Zabel B, Munnich A, Gecz J, Mulley JC. Gedeon AK, et al. Among authors: rimoin dl. Am J Hum Genet. 2001 Jun;68(6):1386-97. doi: 10.1086/320592. Epub 2001 May 8. Am J Hum Genet. 2001. PMID: 11349230 Free PMC article.
Skeletal dysplasias.
Savarirayan R, Rimoin DL. Savarirayan R, et al. Among authors: rimoin dl. Adv Pediatr. 2004;51:209-29. Adv Pediatr. 2004. PMID: 15366775 No abstract available.
The skeletal dysplasias.
Savarirayan R, Rimoin DL. Savarirayan R, et al. Among authors: rimoin dl. 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.
Genetic homogeneity of cartilage-hair hypoplasia.
Sulisalo T, van der Burgt I, Rimoin DL, Bonaventure J, Sillence D, Campbell JB, Chitayat D, Scott CI, de la Chapelle A, Sistonen P, et al. Sulisalo T, et al. Among authors: rimoin dl. Hum Genet. 1995 Feb;95(2):157-60. doi: 10.1007/BF00209394. Hum Genet. 1995. PMID: 7860061
Nosology and classification of genetic skeletal disorders: 2010 revision.
Warman ML, Cormier-Daire V, Hall C, Krakow D, Lachman R, LeMerrer M, Mortier G, Mundlos S, Nishimura G, Rimoin DL, Robertson S, Savarirayan R, Sillence D, Spranger J, Unger S, Zabel B, Superti-Furga A. Warman ML, et al. Among authors: rimoin dl. Am J Med Genet A. 2011 May;155A(5):943-68. doi: 10.1002/ajmg.a.33909. Epub 2011 Mar 15. Am J Med Genet A. 2011. PMID: 21438135 Free PMC article. Review.
Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum.
Briggs MD, Mortier GR, Cole WG, King LM, Golik SS, Bonaventure J, Nuytinck L, De Paepe A, Leroy JG, Biesecker L, Lipson M, Wilcox WR, Lachman RS, Rimoin DL, Knowlton RG, Cohn DH. Briggs MD, et al. Among authors: rimoin dl. Am J Hum Genet. 1998 Feb;62(2):311-9. doi: 10.1086/301713. Am J Hum Genet. 1998. PMID: 9463320 Free PMC article.
404 results