Eyre D - Search Results

1

Clinical--molecular correlations in the skeletal dysplasias.

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

2

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: eyre dr. Hum Mol Genet. 1995 Feb;4(2):285-8. doi: 10.1093/hmg/4.2.285. Hum Mol Genet. 1995. PMID: 7757081

3

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: eyre dr. Hum Mol Genet. 1994 Nov;3(11):1999-2003. doi: 10.1093/hmg/3.11.1999. Hum Mol Genet. 1994. PMID: 7874117

4

Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation.

Weis MA, Wilkin DJ, Kim HJ, Wilcox WR, Lachman RS, Rimoin DL, Cohn DH, Eyre DR. Weis MA, et al. Among authors: eyre dr. J Biol Chem. 1998 Feb 20;273(8):4761-8. doi: 10.1074/jbc.273.8.4761. J Biol Chem. 1998. PMID: 9468540 Free article.

5

An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita.

Tiller GE, Weis MA, Polumbo PA, Gruber HE, Rimoin DL, Cohn DH, Eyre DR. Tiller GE, et al. Among authors: eyre dr. Am J Hum Genet. 1995 Feb;56(2):388-95. Am J Hum Genet. 1995. PMID: 7847372 Free PMC article.

6

Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type.

Tiller GE, Polumbo PA, Weis MA, Bogaert R, Lachman RS, Cohn DH, Rimoin DL, Eyre DR. Tiller GE, et al. Among authors: eyre dr. Nat Genet. 1995 Sep;11(1):87-9. doi: 10.1038/ng0995-87. Nat Genet. 1995. PMID: 7550321

7

Expression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia.

Bogaert R, Wilkin D, Wilcox WR, Lachman R, Rimoin D, Cohn DH, Eyre DR. Bogaert R, et al. Among authors: eyre dr. Am J Hum Genet. 1994 Dec;55(6):1128-36. Am J Hum Genet. 1994. PMID: 7977371 Free PMC article.

8

Incorporation of structurally defective type II collagen into cartilage matrix in kniest chondrodysplasia.

Fernandes RJ, Wilkin DJ, Weis MA, Wilcox WR, Cohn DH, Rimoin DL, Eyre DR. Fernandes RJ, et al. Among authors: eyre dr. Arch Biochem Biophys. 1998 Jul 15;355(2):282-90. doi: 10.1006/abbi.1998.0745. Arch Biochem Biophys. 1998. PMID: 9675039

9

Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder.

Mortier GR, Weis M, Nuytinck L, King LM, Wilkin DJ, De Paepe A, Lachman RS, Rimoin DL, Eyre DR, Cohn DH. Mortier GR, et al. Among authors: eyre dr. J Med Genet. 2000 Apr;37(4):263-71. doi: 10.1136/jmg.37.4.263. J Med Genet. 2000. PMID: 10745044 Free PMC article.

10

An amino acid substitution (Gly853-->Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis.

Bogaert R, Tiller GE, Weis MA, Gruber HE, Rimoin DL, Cohn DH, Eyre DR. Bogaert R, et al. Among authors: eyre dr. J Biol Chem. 1992 Nov 5;267(31):22522-6. J Biol Chem. 1992. PMID: 1429602 Free article.

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