Univ.-Prof. Dr. Bernhard Zabel
FB 04 - Universitätsmedizin, Johannes Gutenberg-Universität Mainz
- 06131/17-6826
- 06131/17-5528
Zabel, Bernhard; Hilbert, Katja; Stöss, Hartmut et al.
A Specific Collagen Type II Gene (COL2A1) Mutation Presenting as Spondyloperipheral DysplasiaAmerican journal of medical genetics. Bd. 63. H. 1. Hoboken, NJ: Wiley-Liss 1996 S. 123 - 128
Menger, H.; Mundlos, S.; Becker, K. et al.
An Unknown Spondylo-Meta-Epiphyseal Dysplasia in Sibs With Extreme Short StatureAmerican journal of medical genetics. Bd. 63. H. 1. Hoboken, NJ: Wiley-Liss 1996 S. 80 - 83
Endele, Sabine; Zabel, Bernhard; Winterpacht, Andreas
Brief Report: Assignment of the Human Diacylglycerol Kinase 4 (DAGK4) Gene to Chromosome 4p16.3Genomics. internat. journal of gene mapping and nucleotide sequencing ; emphasizing analyses of the human and other complex genomes. Bd. 33. H. 1. San Diego, Calif. [u.a.]: Elsevier 1996 S. 145 - 146
Zabel, Bernhard
Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndromeNature genetics. Bd. 14. H. 4. New York, NY: Nature America 1996 S. 392 - 399
Müller-Navia, J.; Nebel, A.; Oehler, D. et al.
Microdissection and DOP-PCR-based Reverse Chromosome Painting as a Fast and Reliable Strategy in the Analysis of Various Structural Chromosome AbnormalitiesPrenatal diagnosis. Bd. 16. H. 10. Chichester: Wiley 1996 S. 915 - 922
Pohlenz, Joachim; Schönberger, Winfried; Wemme, Heike et al.
New Point Mutation (R243W) in the Hormone Binding Domain of the c-erbA b1 Gene in a Family With Generalized Resistance to Thyroid HormoneHuman mutation. variation, databases, and disease. Bd. 7. H. 1. New York, NY [u.a.]: Wiley-Liss 1996 S. 79 - 81
Winterpacht, A.; Superti-Furga, A.; Schwarze, U. et al.
The deletion of six amino acids at the C-terminus of the a1(11) chain causes overmodification of type II and type XI collagen: Further evidence for the association between small deletions in COL2A1 and Kniest dysplasiaJournal of medical genetics. Bd. 33. H. 8. London: BMJ Publishing Group 1996 S. 649 - 654
Winterpacht, A.; Hilbert, K.; Schwarze, U. et al.
Non-radioactive multiplex-SSCP analysis: Detection of a new type II procollagen gene (COL2A1) mutationHuman genetics <Berlin>. Bd. 95. H. 4. Berlin: Springer 1995 S. 437 - 439
Zabel, Bernhard
Systematic screening of an arrayed cDNA library by PCRProceedings of the National Academy of Sciences of the United States of America. Bd. 92. H. 6. Washington, DC: NAS 1995 S. 2209 - 2213
Zabel, Bernhard
Alternative splicing as the result of a type II procollagen gene (COL2A1) mutation in a patient with Kniest dysplasiaHuman molecular genetics. Bd. 3. H. 10. Oxford: Oxford Univ. Press 1994 S. 1891 - 1893