Cohn DH - Search Results

1

Small deletions in the type II collagen triple helix produce kniest dysplasia.

Wilkin DJ, Artz AS, South S, Lachman RS, Rimoin DL, Wilcox WR, McKusick VA, Stratakis CA, Francomano CA, Cohn DH. Wilkin DJ, et al. Among authors: cohn dh. Am J Med Genet. 1999 Jul 16;85(2):105-12. Am J Med Genet. 1999. PMID: 10406661

2

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: cohn dh. J Biol Chem. 1992 Nov 5;267(31):22522-6. J Biol Chem. 1992. PMID: 1429602 Free article.

3

Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia.

Tiller GE, Rimoin DL, Murray LW, Cohn DH. Tiller GE, et al. Among authors: cohn dh. Proc Natl Acad Sci U S A. 1990 May;87(10):3889-93. doi: 10.1073/pnas.87.10.3889. Proc Natl Acad Sci U S A. 1990. PMID: 2339128 Free PMC article.

4

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: cohn dh. Nat Genet. 1995 Sep;11(1):87-9. doi: 10.1038/ng0995-87. Nat Genet. 1995. PMID: 7550321

5

Clinical--molecular correlations in the skeletal dysplasias.

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

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

7

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.

Tavormina PL, Shiang R, Thompson LM, Zhu YZ, Wilkin DJ, Lachman RS, Wilcox WR, Rimoin DL, Cohn DH, Wasmuth JJ. Tavormina PL, et al. Among authors: cohn dh. Nat Genet. 1995 Mar;9(3):321-8. doi: 10.1038/ng0395-321. Nat Genet. 1995. PMID: 7773297

8

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: cohn dh. Am J Hum Genet. 1995 Feb;56(2):388-95. Am J Hum Genet. 1995. PMID: 7847372 Free PMC article.

9

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

10

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: cohn dh. Am J Hum Genet. 1994 Dec;55(6):1128-36. Am J Hum Genet. 1994. PMID: 7977371 Free PMC article.

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