Schwarze, Ulrike

Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type

Pepin, M., Schwarze, U., Superti-Furga, A., & Byers, P. H. (2000) · New England Journal of Medicine

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 1,344

Human Ehlers-Danlos Syndrome Type VII C and Bovine Dermatosparaxis Are Caused by Mutations in the Procollagen I N-Proteinase Gene

Colige, A., Sieron, A. L., Li, S.-W., Schwarze, U., Petty, E., Wertelecki, W., Wilcox, W., Krakow, D., Cohn, D. H., Reardon, W., et al. (1999) · The American Journal of Human Genetics

Connective tissue disorders researchProtease and Inhibitor Mechanisms

Cited by 370

Survival is affected by mutation type and molecular mechanism in vascular Ehlers–Danlos syndrome (EDS type IV)

Pepin, M. G., Schwarze, U., Rice, K. M., Liu, M., Leistritz, & Byers, P. H. (2014) · Genetics in Medicine

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 313

Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV

Schwarze, U., Schievink, W. I., Petty, E., Jaff, M. R., Babovic-Vuksanovic, D., Cherry, K. J., Pepin, M., & Byers, P. H. (2001) · The American Journal of Human Genetics

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 184

Rare Autosomal Recessive Cardiac Valvular Form of Ehlers-Danlos Syndrome Results from Mutations in the COL1A2 Gene That Activate the Nonsense-Mediated RNA Decay Pathway

Schwarze, U., Hata, R.-I., McKusick, V. A., Shinkai, H., Hoyme, H. E., Pyeritz, R. E., & Byers, P. H. (2004) · The American Journal of Human Genetics

Connective tissue disorders researchRNA Research and Splicing

Cited by 180

COL3A1haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy

Leistritz, D. F., Pepin, M. G., Schwarze, U., & Byers, P. H. (2011) · Genetics in Medicine

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 141

Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis

Smith, L. T., Schwarze, U., Goldstein, J., & Byers, P. H. (1997) · Journal of Investigative Dermatology

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 99