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1
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0020265168
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Type I osteogenesis imperfecta: A non-functional allele for proα1(I) chains of type I procollagen
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Barsh GS, David KE, Byers PH. 1982. Type I osteogenesis imperfecta: a non-functional allele for proα1(I) chains of type I procollagen. Proc Natl Acad Sci U S A 79: 3838-3842.
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Barsh, G.S.1
David, K.E.2
Byers, P.H.3
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2
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0002560149
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Osteogenesis imperfecta
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Royce PM, Steinmann B (eds). New York: Wiley-Liss
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Byers PH. 1993. Osteogenesis imperfecta. In: Royce PM, Steinmann B (eds) Connective Tissue and its Heritable Disorders. New York: Wiley-Liss; 317-350.
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Connective Tissue and Its Heritable Disorders
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Byers, P.H.1
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3
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0031941142
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Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with mild osteogenesis imperfecta (type I). Identification of common sequences for null allele mutations
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Körkko J, Ala-Kokko L, De Paepe A, Nuytinck L, Earley J, Prockop DJ. 1998. Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with mild osteogenesis imperfecta (type I). Identification of common sequences for null allele mutations. Am J Hum Genet 62: 98-110.
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Körkko, J.1
Ala-Kokko, L.2
De Paepe, A.3
Nuytinck, L.4
Earley, J.5
Prockop, D.J.6
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4
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0030981996
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Two new recurrent nucleotide mutations in the COL1A1 gene in four patients with osteogenesis imperfecta: About one-fifth are recurrent
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Körkko J, Kuivaniemi H, Paassilta P, Zhuang J, Tromp G, De Paepe A, Prockop DJ. 1997. Two new recurrent nucleotide mutations in the COL1A1 gene in four patients with osteogenesis imperfecta: about one-fifth are recurrent. Hum Mutat 9: 148-156.
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Hum Mutat
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Körkko, J.1
Kuivaniemi, H.2
Paassilta, P.3
Zhuang, J.4
Tromp, G.5
De Paepe, A.6
Prockop, D.J.7
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5
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0345522683
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4 bp insertion polymorphism in the 3′ UTR of the COL1A1 gene is highly informative for null-allele testing in patients with OI type I
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Nuytinck L, Coppin C, De Paepe A. 1998. 4 bp insertion polymorphism in the 3′ UTR of the COL1A1 gene is highly informative for null-allele testing in patients with OI type I. Matrix Biol 16: 329-333.
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Matrix Biol
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Nuytinck, L.1
Coppin, C.2
De Paepe, A.3
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6
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0030983225
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Strategies and outcomes of prenatal diagnosis for osteogenesis imperfecta: A review of biochemical and molecular studies completed in 129 pregnancies
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Pepin M, Atkinson M, Starman BJ, Byers P. 1997. Strategies and outcomes of prenatal diagnosis for osteogenesis imperfecta: a review of biochemical and molecular studies completed in 129 pregnancies. Prenat Diagn 17: 559-570.
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Prenat Diagn
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Pepin, M.1
Atkinson, M.2
Starman, B.J.3
Byers, P.4
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7
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0018416379
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Genetic heterogeneity in osteogenesis imperfecta
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Sillence DO, Senn A, Danks DM. 1979. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 16: 101-116.
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Sillence, D.O.1
Senn, A.2
Danks, D.M.3
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8
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0026410280
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Exclusion of COL1A1, COL1A2 and COL3A1 genes as candidate genes for Ehlers-Danlos syndrome type I in one large family
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Sokolov BP, Prytkov AN, Tromp G, Knowlton RG, Prockop DJ. 1991. Exclusion of COL1A1, COL1A2 and COL3A1 genes as candidate genes for Ehlers-Danlos syndrome type I in one large family. Hum Genet 88: 125-129.
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Sokolov, B.P.1
Prytkov, A.N.2
Tromp, G.3
Knowlton, R.G.4
Prockop, D.J.5
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9
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0028050102
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Osteogenesis imperfecta type I: Molecular heterogeneity for COL1A1 null alleles of type I collagen
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Willing MC, Deschenes SP, Scott DA, Byers PH, Slayton RL, Pitts SH, Arikat K, Roberts EJ. 1994. Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen. Am J Hum Genet 55: 638-647.
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(1994)
Am J Hum Genet
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Willing, M.C.1
Deschenes, S.P.2
Scott, D.A.3
Byers, P.H.4
Slayton, R.L.5
Pitts, S.H.6
Arikat, K.7
Roberts, E.J.8
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10
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0029794061
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Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains
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Willing MC, Deschenes SP, Slayton RL, Roberts EJ. 1996. Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains. Am J Hum Genet 59: 799-809.
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Willing, M.C.1
Deschenes, S.P.2
Slayton, R.L.3
Roberts, E.J.4
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11
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0026663287
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Osteogenesis imperfecta type I is commonly due to a COL1A1 null-allele of type I collagen
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Willing MC, Pruchno CJ, Atkinson M, Byers PH. 1992. Osteogenesis imperfecta type I is commonly due to a COL1A1 null-allele of type I collagen. Am J Hum Genet 51: 508-515.
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(1992)
Am J Hum Genet
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Willing, M.C.1
Pruchno, C.J.2
Atkinson, M.3
Byers, P.H.4
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