Steinmann, Beat

LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development

Gong, Y., Slee, R. B., Fukai, N., Rawadi, G., Roman-Roman, S., Reginato, A. M., Wang, H., Cundy, T., Glorieux, F. H., Lev, D., et al. (2001) · Cell

Bone health and osteoporosis researchBone Metabolism and Diseases

Cited by 2,235

The Ehlers‐Danlos Syndrome

Steinmann, B., Royce, P. M., & Superti‐Furga, A. (2002) · Connective Tissue and Its Heritable Disorders

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 358

Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13

Giunta, C., Elçioglu, N. H., Albrecht, B., Eich, G., Chambaz, C., Janecke, A. R., Yeowell, H., Weis, M., Eyre, D. R., Kraenzlin, M., et al. (2008) · The American Journal of Human Genetics

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 218

Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

Baumann, M., Giunta, C., Krabichler, B., Rüschendorf, F., Zoppi, N., Colombi, M., Bittner, R. E., Quijano-Roy, S., Muntoni, F., Cirak, S., et al. (2012) · The American Journal of Human Genetics

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 162

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components

Rohrbach, M., Spencer, H. L., Porter, L. F., Burkitt-Wright, E. M. M., Bürer, C., Janecke, A., Bakshi, M., Sillence, D., Al-Hussain, H., Baumgartner, M., et al. (2013) · Molecular Genetics and Metabolism

Connective tissue disorders researchCorneal surgery and disorders

Cited by 83

Fibrillin and elastin expression in skin regenerating from cultured keratinocyte autografts: morphogenesis of microfibrils begins at the dermo-epidermal junction and precedes elastic fiber formation

Raghunath, M., Bächi, T., Meuli, M., Altermatt, S., Gobet, R., Bruckner-Tuderman, L., & Steinmann, B. (1996) · Journal of Investigative Dermatology

Wound Healing and TreatmentsSkin and Cellular Biology Research

Cited by 80

Ehlers-Danlos Syndrome Type VII: Clinical Features and Molecular Defects*

GIUNTA, C., SUPERTI-FURGA, A., SPRANGER, S., COLE, W. G., & STEINMANN, B. (1999) · The Journal of Bone & Joint Surgery

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 77

The phenotype of the musculocontractural type of Ehlers‐Danlos syndrome due to CHST14 mutations

Janecke, A. R., Li, B., Boehm, M., Krabichler, B., Rohrbach, M., Müller, T., Fuchs, I., Golas, G., Katagiri, Y., Ziegler, S. G., et al. (2016) · American Journal of Medical Genetics Part A

Connective tissue disorders researchProteoglycans and glycosaminoglycans research

Cited by 66

Brittle cornea syndrome: An heritable connective tissue disorder distinct from Ehlers-Danlos syndrome type VI and fragilitas oculi, with spontaneous perforations of the eye, blue sclerae, red hair, and normal collagen lysyl hydroxylation

Royce, P. M., Steinmann, B., Vogel, A., Steinhorst, U., & Kohlschuetter, A. (1990) · European Journal of Pediatrics

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 29