Byers PH - Search Results

1

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

2

Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen.

Willing MC, Pruchno CJ, Atkinson M, Byers PH. Willing MC, et al. Among authors: byers ph. Am J Hum Genet. 1992 Sep;51(3):508-15. Am J Hum Genet. 1992. PMID: 1353940 Free PMC article.

3

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: byers ph. Hum Genet. 1991 May;87(1):33-40. doi: 10.1007/BF01213088. Hum Genet. 1991. PMID: 2037280

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

5

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.

6

Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta.

Wenstrup RJ, Willing MC, Starman BJ, Byers PH. Wenstrup RJ, et al. Among authors: byers ph. Am J Hum Genet. 1990 May;46(5):975-82. Am J Hum Genet. 1990. PMID: 2339695 Free PMC article.

7

Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent.

Wallis GA, Starman BJ, Zinn AB, Byers PH. Wallis GA, et al. Among authors: byers ph. Am J Hum Genet. 1990 Jun;46(6):1034-40. Am J Hum Genet. 1990. PMID: 2339700 Free PMC article.

8

Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen.

Byers PH, Tsipouras P, Bonadio JF, Starman BJ, Schwartz RC. Byers PH, et al. Am J Hum Genet. 1988 Feb;42(2):237-48. Am J Hum Genet. 1988. PMID: 3341380 Free PMC article.

9

Osteogenesis imperfecta type IV: evidence of abnormal triple helical structure of type I collagen.

Wenstrup RJ, Hunter AG, Byers PH. Wenstrup RJ, et al. Among authors: byers ph. Hum Genet. 1986 Sep;74(1):47-53. doi: 10.1007/BF00278784. Hum Genet. 1986. PMID: 3759085

10

Substitutions of aspartic acid for glycine-220 and of arginine for glycine-664 in the triple helix of the pro alpha 1(I) chain of type I procollagen produce lethal osteogenesis imperfecta and disrupt the ability of collagen fibrils to incorporate crystalline hydroxyapatite.

Culbert AA, Lowe MP, Atkinson M, Byers PH, Wallis GA, Kadler KE. Culbert AA, et al. Among authors: byers ph. Biochem J. 1995 Nov 1;311 ( Pt 3)(Pt 3):815-20. doi: 10.1042/bj3110815. Biochem J. 1995. PMID: 7487936 Free PMC article.

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