Cohn DH - Search Results

1

Generalized connective tissue disease in Crtap-/- mouse.

Baldridge D, Lennington J, Weis M, Homan EP, Jiang MM, Munivez E, Keene DR, Hogue WR, Pyott S, Byers PH, Krakow D, Cohn DH, Eyre DR, Lee B, Morello R. Baldridge D, et al. Among authors: cohn dh. PLoS One. 2010 May 11;5(5):e10560. doi: 10.1371/journal.pone.0010560. PLoS One. 2010. PMID: 20485499 Free PMC article.

2

Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosaic parent exhibits phenotypic features of a mild form of the disease.

Edwards MJ, Wenstrup RJ, Byers PH, Cohn DH. Edwards MJ, et al. Among authors: cohn dh. Hum Mutat. 1992;1(1):47-54. doi: 10.1002/humu.1380010108. Hum Mutat. 1992. PMID: 1301191

3

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.

4

Cysteine in the triple helical domain of the pro alpha 2(I) chain of type-I collagen in nonlethal forms of osteogenesis imperfecta.

Cohn DH, Byers PH. Cohn DH, et al. Hum Genet. 1991 Jun;87(2):167-72. doi: 10.1007/BF00204175. Hum Genet. 1991. PMID: 2066103

5

Clinical screening for collagen defects in connective tissue diseases.

Cohn DH, Byers PH. Cohn DH, et al. Clin Perinatol. 1990 Dec;17(4):793-809. Clin Perinatol. 1990. PMID: 2286029 Review.

6

Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I.

Willing MC, Cohn DH, Byers PH. Willing MC, et al. Among authors: cohn dh. J Clin Invest. 1990 Jan;85(1):282-90. doi: 10.1172/JCI114424. J Clin Invest. 1990. PMID: 2295701 Free PMC article.

7

Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1).

Cohn DH, Starman BJ, Blumberg B, Byers PH. Cohn DH, et al. Am J Hum Genet. 1990 Mar;46(3):591-601. Am J Hum Genet. 1990. PMID: 2309707 Free PMC article.

8

Arginine for glycine substitution in the triple-helical domain of the products of one alpha 2(I) collagen allele (COL1A2) produces the osteogenesis imperfecta type IV phenotype.

Wenstrup RJ, Cohn DH, Cohen T, Byers PH. Wenstrup RJ, et al. Among authors: cohn dh. J Biol Chem. 1988 Jun 5;263(16):7734-40. J Biol Chem. 1988. PMID: 2897363 Free article.

9

Osteogenesis imperfecta and other inherited disorders of the structure and synthesis of type I collagen: models for the analysis of mutations that result in inherited chondrodysplasias.

Cohn DH, Byers PH. Cohn DH, et al. Pathol Immunopathol Res. 1988;7(1-2):132-8. doi: 10.1159/000157108. Pathol Immunopathol Res. 1988. PMID: 3065765 Review. No abstract available.

10

Substitution of cysteine for glycine within the carboxyl-terminal telopeptide of the alpha 1 chain of type I collagen produces mild osteogenesis imperfecta.

Cohn DH, Apone S, Eyre DR, Starman BJ, Andreassen P, Charbonneau H, Nicholls AC, Pope FM, Byers PH. Cohn DH, et al. J Biol Chem. 1988 Oct 15;263(29):14605-7. J Biol Chem. 1988. PMID: 3170557 Free article.

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