Cohn DH - Search Results

1

CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta.

Baldridge D, Schwarze U, Morello R, Lennington J, Bertin TK, Pace JM, Pepin MG, Weis M, Eyre DR, Walsh J, Lambert D, Green A, Robinson H, Michelson M, Houge G, Lindman C, Martin J, Ward J, Lemyre E, Mitchell JJ, Krakow D, Rimoin DL, Cohn DH, Byers PH, Lee B. Baldridge D, et al. Among authors: cohn dh. Hum Mutat. 2008 Dec;29(12):1435-42. doi: 10.1002/humu.20799. Hum Mutat. 2008. PMID: 18566967 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

The effects of different cysteine for glycine substitutions within alpha 2(I) chains. Evidence of distinct structural domains within the type I collagen triple helix.

Wenstrup RJ, Shrago-Howe AW, Lever LW, Phillips CL, Byers PH, Cohn DH. Wenstrup RJ, et al. Among authors: cohn dh. J Biol Chem. 1991 Feb 5;266(4):2590-4. J Biol Chem. 1991. PMID: 1990009 Free article.

5

Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen.

Pruchno CJ, Cohn DH, Wallis GA, Willing MC, Starman BJ, Zhang XM, Byers PH. Pruchno CJ, et al. Among authors: cohn dh. Hum Genet. 1991 May;87(1):33-40. doi: 10.1007/BF01213088. Hum Genet. 1991. PMID: 2037280

6

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

7

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.

8

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.

9

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.

10

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.

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