Rimoin DL - Search Results

1

The skeletal dysplasias: clinical-molecular correlations.

Rimoin DL, Cohn D, Krakow D, Wilcox W, Lachman RS, Alanay Y. Rimoin DL, et al. Ann N Y Acad Sci. 2007 Nov;1117:302-9. doi: 10.1196/annals.1402.072. Ann N Y Acad Sci. 2007. PMID: 18056050 Review.

2

Occipital projections in the skeletal dysplasias.

Takamine Y, Lachman RS, Field FM, Rimoin DL. Takamine Y, et al. Among authors: rimoin dl. Pediatr Radiol. 2004 Jul;34(7):530-4. doi: 10.1007/s00247-004-1191-y. Epub 2004 Apr 24. Pediatr Radiol. 2004. PMID: 15107965

3

Guidelines for the prenatal diagnosis of fetal skeletal dysplasias.

Krakow D, Lachman RS, Rimoin DL. Krakow D, et al. Among authors: rimoin dl. Genet Med. 2009 Feb;11(2):127-33. doi: 10.1097/GIM.0b013e3181971ccb. Genet Med. 2009. PMID: 19265753 Free PMC article.

4

The skeletal dysplasias.

Krakow D, Rimoin DL. Krakow D, et al. Among authors: rimoin dl. Genet Med. 2010 Jun;12(6):327-41. doi: 10.1097/GIM.0b013e3181daae9b. Genet Med. 2010. PMID: 20556869 Free article. Review.

5

The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family).

Nemec SF, Cohn DH, Krakow D, Funari VA, Rimoin DL, Lachman RS. Nemec SF, et al. Among authors: rimoin dl. Pediatr Radiol. 2012 Jan;42(1):15-23. doi: 10.1007/s00247-011-2229-6. Epub 2011 Aug 24. Pediatr Radiol. 2012. PMID: 21863289 Review.

6

Mutations in the cartilage oligomeric matrix protein (COMP) gene in pseudoachondroplasia and multiple epiphyseal dysplasia.

Cohn DH, Briggs MD, King LM, Rimoin DL, Wilcox WR, Lachman RS, Knowlton RG. Cohn DH, et al. Among authors: rimoin dl. Ann N Y Acad Sci. 1996 Jun 8;785:188-94. doi: 10.1111/j.1749-6632.1996.tb56258.x. Ann N Y Acad Sci. 1996. PMID: 8702126 Review. No abstract available.

7

"Duplicate calcaneus": a rare developmental defect observed in several skeletal dysplasias.

Cormier-Daire V, Savarirayan R, Unger S, Rimoin DL, Lachman RS. Cormier-Daire V, et al. Among authors: rimoin dl. Pediatr Radiol. 2001 Jan;31(1):38-42. doi: 10.1007/s002470000354. Pediatr Radiol. 2001. PMID: 11200997

8

Spectrum of dolichospondylic dysplasia: two new patients with distinctive findings.

Elliott AM, Graham JM Jr, Curry CJ, Pal T, Rimoin DL, Lachman RS. Elliott AM, et al. Among authors: rimoin dl. Am J Med Genet. 2002 Dec 15;113(4):351-61. doi: 10.1002/ajmg.b.10656. Am J Med Genet. 2002. PMID: 12457407

9

Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene.

Cohn DH, Ehtesham N, Krakow D, Unger S, Shanske A, Reinker K, Powell BR, Rimoin DL. Cohn DH, et al. Among authors: rimoin dl. Am J Hum Genet. 2003 Feb;72(2):419-28. doi: 10.1086/346176. Epub 2002 Dec 16. Am J Hum Genet. 2003. PMID: 12491225 Free PMC article.

10

MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia.

Lachman RS, Krakow D, Cohn DH, Rimoin DL. Lachman RS, et al. Among authors: rimoin dl. Pediatr Radiol. 2005 Feb;35(2):116-23. doi: 10.1007/s00247-004-1323-4. Epub 2004 Oct 21. Pediatr Radiol. 2005. PMID: 15503005 Review.

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