Beat Steinmann

发表

Cyclosporin A slows collagen triple-helix formation in vivo: indirect evidence for a physiologic role of peptidyl-prolyl cis-trans-isomerase.

A. Superti-Furga, B. Steinmann, P. Bruckner, 1991, The Journal of biological chemistry.

Imperfect Collagenesis in Osteogenesis Imperfecta The Consequences of Cysteine‐Glycine Substitutions upon Collagen Structure and Metabolism a

A. Superti-Furga, B. Steinmann, P. Royce, 1988, Annals of the New York Academy of Sciences.

Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: a case for "lumping".

R. Tenconi, M. Clementi, E. Boltshauser, 1998, American journal of medical genetics.

A Family of Chondrodysplasias Caused by Mutations in the Diastrophic Dysplasia Sulfate Transporter Gene and Associated with Impaired Sulfation of Proteoglycans a

E. Lander, D. Rimoin, W. Wilcox, 1996, Annals of the New York Academy of Sciences.

A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations.

R. Gitzelmann, A. Superti-Furga, B. Steinmann, 1996, American journal of medical genetics.

Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNA

R. Gitzelmann, A. Superti-Furga, E. Schoenle, 2005, European Journal of Pediatrics.

Changes of Liver Metabolite Concentrations in Adults with Disorders of Fructose Metabolism after Intravenous Fructose by 31P Magnetic Resonance Spectroscopy

P Boesiger, D Meier, R. Buchli, 1994, Pediatric Research.

Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen.

R. Gitzelmann, A. Superti-Furga, B. Steinmann, 1988, The Journal of biological chemistry.

Ehlers-Danlos syndrome type VII: clinical features and molecular defects.

W. Cole, A. Superti-Furga, C. Giunta, 1999, The Journal of bone and joint surgery. American volume.

Ehlers-Danlos syndrome type IV: a subset of patients distinguished by low serum levels of the amino-terminal propeptide of type III procollagen.

H. Joller-jemelka, P. Byers, A. Superti-Furga, 1989, American journal of medical genetics.

Invited Editorial Comment: Osteogenesis Imperfecta: Update and Perspective

P. Byers, J. Bonadio, B. Steinmann, 1984 .

A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia

H. Bucher, R. Gitzelmann, H. Bucher, 1995, European Journal of Pediatrics.

A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village

A. Superti-Furga, L. Bonafė, C. Giunta, 2003, Clinical genetics.

The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia.

A. Winterpacht, B. Zabel, A. Superti-Furga, 1996, Journal of medical genetics.