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Biochemical and Biophysical Research Communications|January 15, 1988
Impaired secretion of type III procollagen in Ehlers-Danlos syndrome type IV fibroblasts: correction of the defect by incubation at reduced temperature and demonstration of subtle alterations in the triple-helical region of the moleculeA Superti-Furga, B SteinmannThe Journal of Biological Chemistry|January 15, 1991
Cyclosporin A slows collagen triple-helix formation in vivo: indirect evidence for a physiologic role of peptidyl-prolyl cis-trans-isomeraseB Steinmann, P Bruckner, A Superti-FurgaAmerican Journal of Medical Genetics|May 3, 1996
A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlationsA Superti-Furga, A Rossi, B Steinmann, et al.European Journal of Pediatrics|May 1, 1991
Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozygous for the phenylalanine hydroxylase Arg-261-Gln mutationA Superti-Furga, B Steinmann, G Duc, et al.International Journal of Microcirculation, Clinical and Experimental|August 1, 1992
Microangiopathy in Ehlers-Danlos syndrome type IVA Superti-Furga, B Saesseli, B Steinmann, et al.The Journal of Biological Chemistry|May 5, 1988
Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagenA Superti-Furga, E Gugler, R Gitzelmann, et al.Journal of Medical Genetics|June 1, 1989
Clinical variability of osteogenesis imperfecta linked to COL1A2 and associated with a structural defect in the type I collagen moleculeA Superti-Furga, F Pistone, C Romano, et al.Human Genetics|January 1, 1993
Decreased extracellular deposition of fibrillin and decorin in neonatal Marfan syndrome fibroblastsM Raghunath, A Superti-Furga, M Godfrey, et al.Human Genetics|May 1, 1989
Molecular defects of type III procollagen in Ehlers-Danlos syndrome type IVA Superti-Furga, B Steinmann, F Ramirez, et al.The Journal of Biological Chemistry|November 25, 1991
A 9-base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfectaJ R Hawkins, A Superti-Furga, B Steinmann, et al.Pageof 25