Rimoin DL - Search Results

1

Clinical--molecular correlations in the skeletal dysplasias.

Rimoin DL, Cohn DH, Eyre D. Rimoin DL, et al. Pediatr Radiol. 1994;24(6):425-6. doi: 10.1007/BF02011909. Pediatr Radiol. 1994. PMID: 7700719 Review. No abstract available.

2

Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype.

Unger SL, Briggs MD, Holden P, Zabel B, Ala-Kokko L, Paassilta P, Lohiniva J, Rimoin DL, Lachman RS, Cohn DH. Unger SL, et al. Among authors: rimoin dl. Pediatr Radiol. 2001 Jan;31(1):10-8. doi: 10.1007/s002470000362. Pediatr Radiol. 2001. PMID: 11200990

3

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.

4

A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan.

Tompson SW, Merriman B, Funari VA, Fresquet M, Lachman RS, Rimoin DL, Nelson SF, Briggs MD, Cohn DH, Krakow D. Tompson SW, et al. Among authors: rimoin dl. Am J Hum Genet. 2009 Jan;84(1):72-9. doi: 10.1016/j.ajhg.2008.12.001. Epub 2008 Dec 24. Am J Hum Genet. 2009. PMID: 19110214 Free PMC article.

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

A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691-->Arg) in the type II collagen trimer.

Mortier GR, Wilkin DJ, Wilcox WR, Rimoin DL, Lachman RS, Eyre DR, Cohn DH. Mortier GR, et al. Among authors: rimoin dl. Hum Mol Genet. 1995 Feb;4(2):285-8. doi: 10.1093/hmg/4.2.285. Hum Mol Genet. 1995. PMID: 7757081

7

A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia.

Wilkin DJ, Bogaert R, Lachman RS, Rimoin DL, Eyre DR, Cohn DH. Wilkin DJ, et al. Among authors: rimoin dl. Hum Mol Genet. 1994 Nov;3(11):1999-2003. doi: 10.1093/hmg/3.11.1999. Hum Mol Genet. 1994. PMID: 7874117

8

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.

9

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.

10

Radiographic and morphologic findings in a previously undescribed type of mesomelic dysplasia resembling atelosteogenesis type II.

Brodie SG, Lachman RS, Crandall BF, Fox MA, Rimoin DL, Cohn DH, Wilcox WR. Brodie SG, et al. Among authors: rimoin dl. Am J Med Genet. 1998 Nov 16;80(3):247-51. Am J Med Genet. 1998. PMID: 9843047

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