Byers PH - Search Results

1

Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.

Bodian DL, Chan TF, Poon A, Schwarze U, Yang K, Byers PH, Kwok PY, Klein TE. Bodian DL, et al. Among authors: byers ph. Hum Mol Genet. 2009 Feb 1;18(3):463-71. doi: 10.1093/hmg/ddn374. Epub 2008 Nov 7. Hum Mol Genet. 2009. PMID: 18996919 Free PMC article.

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

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.

7

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

8

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

9

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

10

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.

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