Publikationen Prof. Dr. med. Anita Rauch

ZORA Publikationsliste

Publikationen

• Bähring, S., Rauch, A., Toka, O., Schroeder, C., Hesse, C., Siedler, H., Fesüs, G., Haefeli, W. e, Busjahn, A., Aydin, A., Neuenfeld, Y., Mühl, A., Toka, H. R., Gollasch, M., Jordan, J., & Luft, F. C. (2004). Autosomal-dominant hypertension with type E brachydactyly is caused by rearrangement on the short arm of chromosome 12 Hypertension, 43, 471–476. https://doi.org/10.1161/01.HYP.0000111808.08715.ec
• Rauch, A., Hofbeck, M., Cesnjevar, R., Koch, A., Rauch, R., Buheitel, G., Singer, H., & Weyand, M. (2004). Search for somatic 22q11.2 deletions in patients with conotruncal heart defects American Journal of Medical Genetics. Part A, 124A, 165–169. https://doi.org/10.1002/ajmg.a.20323
• Horn, D., Weschke, B., Zweier, C., & Rauch, A. (2004). Facial phenotype allows diagnosis of Mowat-Wilson syndrome in the absence of Hirschsprung disease American Journal of Medical Genetics. Part A, 124A, 102–104. https://doi.org/10.1002/ajmg.a.20298
• Rauch, A., Beese, M., Mayatepek, E., Dörr, H.-G., Wenzel, D., Reis, A., & Trautmann, U. (2003). A novel 5q35.3 subtelomeric deletion syndrome American Journal of Medical Genetics. Part A, 121A, 1–8. https://doi.org/10.1002/ajmg.a.20173
• Koch, A., Buheitel, G., Hofbeck, M., Rauch, A., Kraus, C., Tassabehji, M., & Singer, H. (2002). Spectrum of arterial obstructions caused by one elastin gene point mutation European Journal of Pediatrics, 162, 53–54. https://doi.org/10.1007/s00431-002-1111-9
• Thiel, C. T., Kraus, C., Rauch, A., Ekici, A. B., Rautenstrauss, B., & Reis, A. (2002). A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP European Journal of Human Genetics, 11, 170–178. https://doi.org/10.1038/sj.ejhg.5200920
• Zweier, C., Albrecht, B., Mitulla, B., Behrens, R., Beese, M., Gillessen-Kaesbach, G., Rott, H.-D., & Rauch, A. (2002). “Mowat-Wilson” syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene. American Journal of Medical Genetics, 108, 177–181. https://doi.org/10.1002/ajmg.10226
• Koch, A., Hofbeck, M., Buheitel, G., Dörr, H.-G., Rauch, A., Rauch, R., & Singer, H. (2002). Hypoparathyroidism in conotruncal heart defects European Journal of Pediatrics, 161, 208–211. https://doi.org/10.1007/s004310100818
• Rauch, R., Rauch, A., Koch, A., Kumpf, M., Dufke, A., Singer, H., & Hofbeck, M. (2002). Cervical origin of the subclavian artery as a specific marker for monosomy 22q11 American Journal of Cardiology, 89, 481–484. https://doi.org/10.1016/s0002-9149(01)02279-2

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