Byers PH - Search Results

1

Marini JC, Forlino A, Bächinger HP, Bishop NJ, Byers PH, Paepe A, Fassier F, Fratzl-Zelman N, Kozloff KM, Krakow D, Montpetit K, Semler O. Marini JC, et al. Among authors: byers ph. Nat Rev Dis Primers. 2017 Aug 18;3:17052. doi: 10.1038/nrdp.2017.52. Nat Rev Dis Primers. 2017. PMID: 28820180 Review.

2

Incorporation of type I collagen molecules that contain a mutant alpha 2(I) chain (Gly580-->Asp) into bone matrix in a lethal case of osteogenesis imperfecta.

Niyibizi C, Bonadio J, Byers PH, Eyre DR. Niyibizi C, et al. Among authors: byers ph. J Biol Chem. 1992 Nov 15;267(32):23108-12. J Biol Chem. 1992. PMID: 1385413 Free article.

3

A tripeptide deletion in the triple-helical domain of the pro alpha 1(I) chain of type I procollagen in a patient with lethal osteogenesis imperfecta does not alter cleavage of the molecule by N-proteinase.

Wallis GA, Kadler KE, Starman BJ, Byers PH. Wallis GA, et al. Among authors: byers ph. J Biol Chem. 1992 Dec 15;267(35):25529-34. J Biol Chem. 1992. PMID: 1460047 Free article.

4

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.

5

Osteogenesis imperfecta: translation of mutation to phenotype.

Byers PH, Wallis GA, Willing MC. Byers PH, et al. J Med Genet. 1991 Jul;28(7):433-42. doi: 10.1136/jmg.28.7.433. J Med Genet. 1991. PMID: 1895312 Free PMC article. Review. No abstract available.

6

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

7

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

8

Substitution of arginine for glycine at position 847 in the triple-helical domain of the alpha 1 (I) chain of type I collagen produces lethal osteogenesis imperfecta. Molecules that contain one or two abnormal chains differ in stability and secretion.

Wallis GA, Starman BJ, Schwartz MF, Byers PH. Wallis GA, et al. Among authors: byers ph. J Biol Chem. 1990 Oct 25;265(30):18628-33. J Biol Chem. 1990. PMID: 2211725 Free article.

9

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: byers ph. J Clin Invest. 1990 Jan;85(1):282-90. doi: 10.1172/JCI114424. J Clin Invest. 1990. PMID: 2295701 Free PMC article.

10

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.

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