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Connective Tissue Research|January 1, 1993
An intronic deletion leading to skipping of exon 21 of COL1A2 in a boy with mild osteogenesis imperfectaA Superti-Furga, M Raghunath, F M Pistone, et al.
The Journal of Biological Chemistry|August 2, 1996
Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 1B homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporterA Rossi, J Bonaventure, A L Delezoide, et al.
Neuropediatrics|April 1, 1994
Somatosensory evoked potentials with high cortical amplitudes: clinical data in 31 childrenB Schmitt, L Thun-Hohenstein, L Molinari, et al.
European Journal of Biochemistry|October 28, 1997
Undersulfation of cartilage proteoglycans ex vivo and increased contribution of amino acid sulfur to sulfation in vitro in McAlister dysplasia/atelosteogenesis type 2A Rossi, J Bonaventure, A L Delezoide, et al.
Clinical Genetics|February 5, 2005
Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2A Zankl, L Bonafé, V Calcaterra, et al.
The Journal of Bone and Joint Surgery. American Volume|March 12, 1999
Ehlers-Danlos syndrome type VII: clinical features and molecular defectsC Giunta, A Superti-Furga, S Spranger, et al.
Pediatric Research|October 1, 1994
Prenatal diagnosis of collagen disorders by direct biochemical analysis of chorionic villus biopsiesM Raghunath, B Steinmann, C Delozier-Blanchet, et al.
Klinische Padiatrie|February 10, 2009
[Successful continuous renal replacement therapy in a neonate with early-onset group B streptococcal sepsis and multi-organ dysfunction syndrome]C von Schnakenburg, M Hufnagel, A Superti-Furga, et al.
American Journal of Medical Genetics|May 3, 1996
A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasiaB Zabel, K Hilbert, H Stöss, et al.
The Biochemical Journal|November 1, 1991
Substitution of cysteine for glycine-alpha 1-691 in the pro alpha 1(I) chain of type I procollagen in a proband with lethal osteogenesis imperfecta destabilizes the triple helix at a site C-terminal to the substitutionB Steinmann, A Westerhausen, C D Constantinou, et al.
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