Ulrike Schwarze

Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships (2009)

Bodian, Dale L., Chan, Ting-Fung, Poon, Annie, Schwarze, Ulrike, Yang, Kathleen, Byers, Peter H., ...

Osteogenesis imperfecta (OI), also known as brittle bone disease, is a clinically and genetically heterogeneous disorder primarily characterized by susceptibility to fracture. Although OI generally...

Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships (2009)

Bodian, Dale L., Chan, Ting-Fung, Poon, Annie, Schwarze, Ulrike, Yang, Kathleen, Byers, Peter H., ...

Cyclosporin A und Plasmapherese als Kombinationstherapie bei 28 Patienten mit systemischem Lupus erythematodes / (1997)

Schwarze, Ulrike.

Mikrofiche-Ausg.: 1 Mikrofiche : 24x

Alternative splicing as the result of a type II procollagen gene (COL2A1) mutation in a patient with Kniest dysplasia (1994)

Winterpacht, Andreas, Schwarze, Ulrike, Mundlos, Stefan, Menger, Hartmut, Spranger, Jürgen, Zabel, Bernhard

Inaktivierung von Nystatin im Magen-Darm-Trakt und intestinale Ausscheidung von Nystatin während prophylaktischer oraler Applikation bei verschiedenen Patientengruppen. (1992)

Schwarze, Ulrike.

Dresden, Med. Akad., Diss., 1992.

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, Ulrike, Schievink, Wouter I., Petty, Elizabeth, Jaff, Michael R., Babovic-Vuksanovic, Dusica, Cherry, Kenneth J., ...

Mutations in the COL3A1 gene that encodes the chains of type III procollagen result in the vascular form of Ehlers-Danlos syndrome (EDS), EDS type IV, if they alter the sequence in the triple-helical...

Order of Intron Removal Influences Multiple Splice Outcomes, Including a Two-Exon Skip, in a COL5A1 Acceptor-Site Mutation That Results in Abnormal Pro-α1(V) N-Propeptides and Ehlers-Danlos Syndrome Type I

Takahara, Kazuhiko, Schwarze, Ulrike, Imamura, Yasutada, Hoffman, Guy G., Toriello, Helga, Smith, Lynne T., ...

Ehlers-Danlos syndrome (EDS) type I (the classical variety) is a dominantly inherited, genetically heterogeneous connective-tissue disorder. Mutations in the COL5A1 and COL5A2 genes, which encode...

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, Ulrike, Hata, Ryu-Ichiro, McKusick, Victor A., Shinkai, Hiroshi, Hoyme, H. Eugene, Pyeritz, Reed E., ...

Splice site mutations in the COL1A2 gene of type I collagen can give rise to forms of Ehlers-Danlos syndrome (EDS) because of partial or complete skipping of exon 6, as well as to mild, moderate, or...

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, Ulrike, Schievink, Wouter I., Petty, Elizabeth, Jaff, Michael R., Babovic-Vuksanovic, Dusica, Cherry, Kenneth J., ...

Mutations in the COL3A1 gene that encodes the chains of type III procollagen result in the vascular form of Ehlers-Danlos syndrome (EDS), EDS type IV, if they alter the sequence in the triple-helical...

Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype–phenotype relationships

Bodian, Dale L., Chan, Ting-Fung, Poon, Annie, Schwarze, Ulrike, Yang, Kathleen, Byers, Peter H., ...

Osteogenesis imperfecta (OI), also known as brittle bone disease, is a clinically and genetically heterogeneous disorder primarily characterized by susceptibility to fracture. Although OI generally...

Defective C-propeptides of the Proα2(I) Chain of Type I Procollagen Impede Molecular Assembly and Result in Osteogenesis Imperfecta*

Pace, James M., Wiese, Mary, Drenguis, Andrea S., Kuznetsova, Natalia, Leikin, Sergey, Schwarze, Ulrike, ...

Type I procollagen is a heterotrimer composed of two proα1(I) chains and one proα2(I) chain, encoded by the COL1A1 and COL1A2 genes, respectively. Mutations in these genes usually lead to...

Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype–phenotype relationships

Bodian, Dale L., Chan, Ting-Fung, Poon, Annie, Schwarze, Ulrike, Yang, Kathleen, Byers, Peter H., ...