Byers PH - Search Results

1

Splicing defects in the COL3A1 gene: marked preference for 5' (donor) spice-site mutations in patients with exon-skipping mutations and Ehlers-Danlos syndrome type IV.

Schwarze U, Goldstein JA, Byers PH. Schwarze U, et al. Among authors: byers ph. Am J Hum Genet. 1997 Dec;61(6):1276-86. doi: 10.1086/301641. Am J Hum Genet. 1997. PMID: 9399899 Free PMC article.

2

Clinical and ultrastructural heterogeneity of type IV Ehlers-Danlos syndrome.

Byers PH, Holbrook KA, McGillivray B, MacLeod PM, Lowry RB. Byers PH, et al. Hum Genet. 1979 Mar 12;47(2):141-50. doi: 10.1007/BF00273196. Hum Genet. 1979. PMID: 437782

3

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.

4

Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen.

Smith LT, Wertelecki W, Milstone LM, Petty EM, Seashore MR, Braverman IM, Jenkins TG, Byers PH. Smith LT, et al. Among authors: byers ph. Am J Hum Genet. 1992 Aug;51(2):235-44. Am J Hum Genet. 1992. PMID: 1642226 Free PMC article.

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

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.

8

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.

9

Molecular heterogeneity in chondrodysplasias.

Byers PH. Byers PH. Am J Hum Genet. 1989 Jul;45(1):1-4. Am J Hum Genet. 1989. PMID: 2662765 Free PMC article. Review. No abstract available.

10

Skin is a window on heritable disorders of connective tissue.

Holbrook KA, Byers PH. Holbrook KA, et al. Among authors: byers ph. Am J Med Genet. 1989 Sep;34(1):105-21. doi: 10.1002/ajmg.1320340118. Am J Med Genet. 1989. PMID: 2683775 Review.

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