Clinical severity prediction in children with osteogenesis imperfecta caused by COL1A1/2 defects

Bardai G(2016)DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 27 3607-3613

Moffatt P(2015)Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta Eur J Hum Genet 23 1112-1042

Glorieux FH(1978)Classification of osteogenesis imperfect Lancet 1 1041-67

Lindahl K(1989)Type I procollagen: the gene-protein system that harbors most of the mutations causing osteogenesis imperfecta and probably more common heritable disorders of connective tissue Am J Med Genet 34 60-1341

Astrom E(2017)Type I procollagen C-propeptide defects: study of genotype-phenotype correlation and predictive role of crystal structure Osteogenesis imperfecta Nat Rev Dis Primers 3 17052-1050

Rubin CJ(2014)Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes Hum Mutat 35 1330-32

Sillence DO(2005)Random forests Genome Res 15 1034-424

Rimoin DL(2001)Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Mach Learn 45 5-1100

Prockop DJ(2015)Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients Genetics in medicine : official journal of the American College of Medical Genetics 17 405-739

Constantinou CD(2019)Molecular outcome, prediction, and clinical consequences of splice variants in COL1A1, which encodes the proalpha1(I) chains of type I procollagen Eur J Hum Genet 27 1090-84

Bardai G(2016)DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 27 3607-3613

Moffatt P(2015)Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta Eur J Hum Genet 23 1112-1042

Glorieux FH(1978)Classification of osteogenesis imperfect Lancet 1 1041-67

Lindahl K(1989)Type I procollagen: the gene-protein system that harbors most of the mutations causing osteogenesis imperfecta and probably more common heritable disorders of connective tissue Am J Med Genet 34 60-1341

Astrom E(2017)Type I procollagen C-propeptide defects: study of genotype-phenotype correlation and predictive role of crystal structure Osteogenesis imperfecta Nat Rev Dis Primers 3 17052-1050

Rubin CJ(2014)Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes Hum Mutat 35 1330-32

Sillence DO(2005)Random forests Genome Res 15 1034-424

Rimoin DL(2001)Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Mach Learn 45 5-1100

Prockop DJ(2015)Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients Genetics in medicine : official journal of the American College of Medical Genetics 17 405-739

Constantinou CD(2019)Molecular outcome, prediction, and clinical consequences of splice variants in COL1A1, which encodes the proalpha1(I) chains of type I procollagen Eur J Hum Genet 27 1090-84