Univ.-Prof. Dr. Bernhard Zabel - Publikationen

Zabel, Bernhard; Hilbert, Katja; Stöss, Hartmut et al.
A Specific Collagen Type II Gene (COL2A1) Mutation Presenting as Spondyloperipheral Dysplasia
American 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 Stature
American 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 4p16.3
Genomics. 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 syndrome
Nature 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 Abnormalities
Prenatal 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 Hormone
Human 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 dysplasia
Journal 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) mutation
Human genetics &lt;Berlin&gt;. Bd. 95. H. 4. Berlin: Springer 1995 S. 437 - 439

Zabel, Bernhard
Systematic screening of an arrayed cDNA library by PCR
Proceedings 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 dysplasia
Human molecular genetics. Bd. 3. H. 10. Oxford: Oxford Univ. Press 1994 S. 1891 - 1893

Wagner, T.; Wirth, J.; Meyer, J. et al.
Autosomal Sex Reversal and Campomelic Dysplasia Are Caused by Mutations in and around the SRY-Related Gene SOX9
Cell. Bd. 79. H. 6. Cambridge, Mass.: Cell Press 1994

Bardeesy, Nabeel; Zabel, Bernhard; Schmitt, Klaus et al.
Brief Report: WT1 Mutations Associated with Incomplete Denys-Drash Syndrome Define a Domain Predicted to Behave in a Dominant-Negative Fashion
Genomics. internat. journal of gene mapping and nucleotide sequencing ; emphasizing analyses of the human and other complex genomes. Bd. 21. H. 3. San Diego, Calif. [u.a.]: Elsevier 1994 S. 663 - 664

Troster, Helmut; Metzger, Thomas E.; Semsei, Imre et al.
One gene, two transcripts: isolation of an alternative transcript encoding for the autoantigen La-SS-B from a cDNA library of a patient with primary Sjögrens' syndrome
The journal of experimental medicine. JEM. Bd. 180. H. 6. New York, NY: Rockefeller Univ. Press 1994 S. 2059 - 2068

Bardeesy, N.; Falkoff, D.; Petruzzi, M. - J. et al.
P53 gene mutations are a rare event in Wilms'tumors and associated with poor prognosis
Nature Genetics. Bd. Nature Genetics. 1994 S. 91-97

Winterpacht, A.; Hilbert, M.; Schwarze, U. et al.
Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect
Nature genetics. Bd. 3. H. 4. New York, NY: Nature America 1993 S. 323 - 326

Zabel, Bernhard
Nuclear localization of the protein encoded by the Wilms' tumor gene WT1 in embryonic and adult tissues
Development. Bd. 119. H. 4. Cambridge: The Company of Biologists 1993 S. 1329 - 1341

Davis, M.; Zabel, B.; Senger, G. et al.
A tumor chromosome rearrangement further defines the 11p13 Wilms'tumor locus
Genomics. Bd. Genomics. 1991 S. 588-592