Publications Prof. Dr. med. Anita Rauch

ZORA Publication List

Publications

• Rauch, Anita (2010). Editorial Molecular Syndromology, 1:1.
• Hennies, Hans Christian; Rauch, Anita; Seifert, Wenke; Schumi, Christian; Moser, Elisabeth; Al-Taji, Eva; Tariverdian, Gholamali; Chrzanowska, Krystyna h; Krajewska-Walasek, Malgorzata; Rajab, Anna; Giugliani, Roberto; Neumann, Thomas e; Eckl, Katja m; Karbasiyan, Mohsen; Reis, André; Horn, Denise (2004). Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome American Journal of Human Genetics, 75(1):138-145.
• Zenker, Martin; Rauch, Anita; Winterpacht, Andreas; Tagariello, Andreas; Kraus, Cornelia; Rupprecht, Thomas; Sticht, Heinrich; Reis, André (2004). A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts American Journal of Human Genetics, 74(4):731-737.
• Zenker, Martin; Buheitel, Gernot; Rauch, Ralf; Koenig, Rainer; Bosse, Kirstin; Kress, Wolfram; Tietze, Hans-Ulrich; Doerr, Helmuth-Guenther; Hofbeck, Michael; Singer, Helmut; Reis, André; Rauch, Anita (2004). Genotype-phenotype correlations in Noonan syndrome Journal of Pediatrics, 144(3):368-74.
• Bähring, Sylvia; Rauch, Anita; Toka, Okan; Schroeder, Christoph; Hesse, Christiane; Siedler, Heike; Fesüs, Gabor; Haefeli, Walter e; Busjahn, Andreas; Aydin, Atakan; Neuenfeld, Yvette; Mühl, Astrid; Toka, Hakan R; Gollasch, Maik; Jordan, Jens; Luft, Friedrich C (2004). Autosomal-dominant hypertension with type E brachydactyly is caused by rearrangement on the short arm of chromosome 12 Hypertension, 43(2):471-476.
• Rauch, Anita; Hofbeck, Michael; Cesnjevar, Robert; Koch, Andreas; Rauch, Ralf; Buheitel, Gernot; Singer, Helmut; Weyand, Michael (2004). Search for somatic 22q11.2 deletions in patients with conotruncal heart defects American Journal of Medical Genetics. Part A, 124A(2):165-169.
• Horn, Denise; Weschke, Bernhard; Zweier, Christiane; Rauch, Anita (2004). Facial phenotype allows diagnosis of Mowat-Wilson syndrome in the absence of Hirschsprung disease American Journal of Medical Genetics. Part A, 124A(1):102-104.
• Rauch, Anita; Beese, Maike; Mayatepek, Ertan; Dörr, Helmut-Günther; Wenzel, Dieter; Reis, André; Trautmann, Udo (2003). A novel 5q35.3 subtelomeric deletion syndrome American Journal of Medical Genetics. Part A, 121A(1):1-8.
• Koch, Andreas; Buheitel, Gernot; Hofbeck, Michael; Rauch, Anita; Kraus, Cornelia; Tassabehji, Mayada; Singer, Helmut (2002). Spectrum of arterial obstructions caused by one elastin gene point mutation European Journal of Pediatrics, 162(1):53-54.
• Thiel, Christian T; Kraus, Cornelia; Rauch, Anita; Ekici, Arif B; Rautenstrauss, Bernd; Reis, André (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(2):170-178.
• Zweier, Christiane; Albrecht, Beate; Mitulla, Beate; Behrens, Rolf; Beese, Maike; Gillessen-Kaesbach, Gabriele; Rott, Hans-Dieter; Rauch, Anita (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(3):177-181.
• Koch, Andreas; Hofbeck, Michael; Buheitel, Gernot; Dörr, Helmuth-Günther; Rauch, Anita; Rauch, Ralf; Singer, Helmut (2002). Hypoparathyroidism in conotruncal heart defects European Journal of Pediatrics, 161(4):208-211.
• Rauch, Ralf; Rauch, Anita; Koch, Andreas; Kumpf, Matthias; Dufke, Andreas; Singer, Helmut; Hofbeck, Michael (2002). Cervical origin of the subclavian artery as a specific marker for monosomy 22q11 American Journal of Cardiology, 89(4):481-484.

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