Byers PH - Search Results

1

A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers.

Patel RM, Nagamani SC, Cuthbertson D, Campeau PM, Krischer JP, Shapiro JR, Steiner RD, Smith PA, Bober MB, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Lee BH, Hart T, Sutton VR. Patel RM, et al. Among authors: byers ph. Clin Genet. 2015 Feb;87(2):133-40. doi: 10.1111/cge.12409. Epub 2014 May 30. Clin Genet. 2015. PMID: 24754836 Free PMC article.

2

Osteogenesis imperfecta.

Byers PH, Steiner RD. Byers PH, et al. Annu Rev Med. 1992;43:269-82. doi: 10.1146/annurev.me.43.020192.001413. Annu Rev Med. 1992. PMID: 1580589 Review.

3

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. Among authors: byers ph. Hum Genet. 1991 Jun;87(2):167-72. doi: 10.1007/BF00204175. Hum Genet. 1991. PMID: 2066103

4

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. Among authors: byers ph. Am J Hum Genet. 1990 Mar;46(3):591-601. Am J Hum Genet. 1990. PMID: 2309707 Free PMC article.

5

Abnormal alpha 2-chain in type I collagen from a patient with a form of osteogenesis imperfecta.

Byers PH, Shapiro JR, Rowe DW, David KE, Holbrook KA. Byers PH, et al. J Clin Invest. 1983 Mar;71(3):689-97. doi: 10.1172/jci110815. J Clin Invest. 1983. PMID: 6826730 Free PMC article.

6

An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the alpha 1 chain of type I collagen: application to four patients with osteogenesis imperfecta.

Mackay K, Byers PH, Dalgleish R. Mackay K, et al. Among authors: byers ph. Hum Mol Genet. 1993 Aug;2(8):1155-60. doi: 10.1093/hmg/2.8.1155. Hum Mol Genet. 1993. PMID: 7691343

7

A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III.

Rose NJ, Mackay K, Byers PH, Dalgleish R. Rose NJ, et al. Among authors: byers ph. Hum Genet. 1995 Feb;95(2):215-8. doi: 10.1007/BF00209405. Hum Genet. 1995. PMID: 7860070

8

A novel glycine to glutamic acid substitution at position 343 in the alpha 2 chain of type I collagen in an individual with lethal osteogenesis imperfecta.

Rose NJ, Mackay K, Byers PH, Dalgleish R. Rose NJ, et al. Among authors: byers ph. Hum Mol Genet. 1993 Dec;2(12):2175-7. doi: 10.1093/hmg/2.12.2175. Hum Mol Genet. 1993. PMID: 7906591 No abstract available.

9

Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible.

Wallis GA, Sykes B, Byers PH, Mathew CG, Viljoen D, Beighton P. Wallis GA, et al. Among authors: byers ph. J Med Genet. 1993 Jun;30(6):492-6. doi: 10.1136/jmg.30.6.492. J Med Genet. 1993. PMID: 8100856 Free PMC article.

10

A single amino acid deletion in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III.

Molyneux K, Starman BJ, Byers PH, Dalgleish R. Molyneux K, et al. Among authors: byers ph. Hum Genet. 1993 Feb;90(6):621-8. doi: 10.1007/BF00202479. Hum Genet. 1993. PMID: 8444468

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