Publikationen von Andreas Tzschach

Dorien Lugtenberg, Tjitske Kleefstra, Astrid R. Oudakker, Willy M. Nillesen, Helger G. Yntema, Andreas Tzschach, Martine Raynaud, Dietz Rating, Hubert Journel, Jamel Chelly, Cyril Goizet, Didier Lacombe, Jean-Michel Pedespan, Bernard Echenne, Gholamali Tariverdian, Declan O'Rourke, Mary D. King, Andrew Green, Margriet van Kogelenberg, Hilde Van Esch, Jozef Gecz, Ben C. J. Hamel, Hans van Bokhoven, and Arjan P. M. de Brouwer, "Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy," European Journal of Human Genetics 17 (4), 444-453 (2009).

Thomas E Neumann, Judith Allanson, Ines Kavamura, Bronwyn Kerr, Giovanni Neri, Jacqueline Noonan, Viviana Cordeddu, Kate Gibson, Andreas Tzschach, Gabriele Krüger, Maria Hoeltzenbein, Timm O Goecke, Hans Gerd Kehl, Beate Albrecht, Klaudiusz Luczak, Maria M. Sasiadek, Luciana Musante, Rohan Laurie, Hartmut Peters, Marco Tartaglia, Martin Zenker, and Vera M. Kalscheuer, "Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome," European Journal of Human Genetics 17 (4), 420-425 (2009).

Andreas Tzschach, Luitgard M. Graul-Neumann, Kateryna Konrat, Reyk Richter, Grit Ebert, Reinhard Ullmann, and Heidemarie Neitzel, "Interstitial deletion 2p11.2-p12: Report of a patient with mental retardation and review of the literature," American Journal of Medical Genetics Part A 149 (2), 242-245 (2009).

Kimia Kahrizi, Hossein Najmabadi, Roxana Kariminejad, Payman Jamali, Mahdi Malekpour, Masoud Garshasbi, Hans-Hilger Ropers, Andreas Walter Kuss, and Andreas Tzschach, "An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4," European Journal of Human Genetics 17 (1), 125-128 (2009).

Vera M. Kalscheuer, Luciana Musante, Cheng Fang, Kirsten Hoffmann, Celine Fuchs, Eloisa Carta, Emma Deas, Kanamarlapudi Venkateswarlu, Corinna Menzel, Reinhard Ullmann, Niels Tommerup, Leda Dalprà, Andreas Tzschach, Angelo Selicorni, Bernhard Lüscher, Hans-Hilger Ropers, Kirsten Harvey, and Robert J. Harvey, "A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation," Human Mutation 30 (1), 61-68 (2009).

Wenke Seifert, Muriel Holder-Espinasse, Jirko Kühnisch, Kimia Kahrizi, Andreas Tzschach, Masoud Garshasbi, Hossein Najmabadi, Andreas Walter Kuss, Wolfram Kress, Geneviève Laureys, Bart Loeys, Eva Brilstra, Grazia M.S. Mancini, Hélène Dollfus, Karin Dahan, Kira Apse, Hans Christian Hennies, and Denise Horn, "Expanded mutational spectrum in Cohen Syndrome, tissue expression, and transcript variants of COH1," Human Mutation 30 (2), E404-E420 (2008).

F Erdogan, L A Larsen, L Zhang, Z Tümer, N Tommerup, Wei Chen, J R Jacobsen, M Schubert, J Jurkatis, Andreas Tzschach, Hans Hilger Ropers, and Reinhard Ullmann, "High frequency of submicroscopic genomic aberrations detected by tiling path array CGH in patients with isolated congenital heart disease," Journal of Medical Genetics 11, 705-709 (2008).

Andreas Tzschach, B. Bozorgmehr, V. Hadavi, K. Kahrizi, Masoud Garshasbi, M. M. Motazacker, Hans-Hilger Ropers, Andreas Kuss, and H. Najmabad, "Alopecia-mental retardation syndrome: clinical and molecular characterization of four patients," British Journal of Dermatology 159 (3), 748-751 (2008).

Andreas Tzschach, Sigrid Tinschert, Elke Kaminsky, Eugen Lusga, Stefan Mundlos, and Luitgard M. Graul-Neumann, "Czech dysplasia: report of a large family and further delineation of the phenotype," American Journal of Medical Genetics Part A 146A (14), 1859-1864 (2008).

Andreas Tzschach, Sigrid Tinschert, Elke Kaminsky, Eugen Lusga, Stefan Mundlos, and Luitgard M. Graul-Neumann, "Czech dysplasia: report of a large family and further delineation of the phenotype," American Journal of Medical Genetics Part A 146A (14), 1859-1864 (2008).

Masoud Garshasbi, Valeh Hadavi, Haleh Habibi, Kimia Kahrizi, Roxana Kariminejad, Farkhondeh Behjati, Andreas Tzschach, Hossein Najmabadi, Hans-Hilger Ropers, and Andreas Walter Kuss, "A defect in the TUSC3 gene is associated with autosomal recessive mental retardation," The American Journal of Human Genetics 82 (5), 1158-1164 (2008).

Suzanna Gerarda Maria Frints, Steffen Lenzner, Mareike Bauters, Lars Riff Jensen, Hilde Van Esch, Vincent des Portes, Ute Moog, Merryn Victor Erik Macville, Kees van Roozendaal, Constance Theresia Rimbertha Maria Schrander-Stumpel, Andreas Tzschach, Peter Marynen, Jean-Pierre Fryns, Ben Hame, Hans van Bokhoven, Jamel Chelly, Chérif Beldjord, Gillian Turner, Jozef Gecz, Claude Moraine, Martine Raynaud, Hans Hilger Ropers, Guy Froyen, and Andreas Walter Kuss, "MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.," European Journal of Human Genetics 16 (9), 1029-1037 (2008).

Wei Chen, Vera Kalscheuer, Andreas Tzschach, Corinna Menzel, Reinhard Ullmann, Marcel Holger Schulz, Fikret Erdogan, Li Na, Zofia Kijas, Ger Arkesteijn, Isidora Lopez Pajares, Margret Goetz-Sothmann, Uwe Heinrich, Imma Rost, Andreas Dufke, Ute Grasshoff, Birgitta Glaeser, Martin Vingron, and H. Hilger Ropers, "Mapping translocation breakpoints by next-generation sequencing," Genome Research 18 (7), 1143-1149 (2008).

Andreas Tzschach, Christina Kelbova, Sabine Weidensee, Hartmut Peters, Hans-Hilger Ropers, Reinhard Ullmann, Fikret Erdogan, Jan Jurkatis, Corinna Menzel, Vera M. Kalscheuer, and Stephanie Demuth, "Blepharophimosis-ptosis, epicanthus inversus syndrome in a girl with chromosome translocation t(2;3) (q33;q23)," Ophthalmic Genetics 29 (1), 37-40 (2008).

Joanna Walczak-Sztulpa, Marzena Wisniewska, Anna Latos-Bielenska, Maja Linné, Christina Kelbova, Britta Belitz, Lutz Pfeiffer, Vera M. Kalscheuer, Fikret Erdogan, Andreas W. Kuss, Hans-Hilger Ropers, Reinhard Ullmann, and Andreas Tzschach, "Chromosome deletions in 13q33-34: Report of four patients and review of the literature," American Journal of Medical Genetics Part A 146 (3), 337-342 (2008).

Lia Abbasi Moheb, Andreas Tzschach, Masoud Garshasbi, Kimia Kahrizi, Hossein Darvish, Yaser Heshmati, Alireza Kordi, Hossein Najmabadi, Hans-Hilger Ropers, and Andreas Walter Kuss, "Identification of nonsense mutation in the very low density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome," European Journal of Human Genetics 16, 270-273 (2008).

Andreas Tzschach, Wei Chen, Fikret Erdogan, Adelheid Hoeller, Hans-Hilger Ropers, Claudio Castellan, Reinhard Ullmann, and Albert Schinzel, "Characterization of Interstitial Xp duplications in two families by tiling path array CGH. American Journal of Medical Genetics," American Journal of Medical Genetics Part A 146A (2), 197-203 (2008).

Mohammad Mahdi Motazacker, Benjamin Rainer Rost, Tim Hucho, Masoud Garshasb, Kimia Kahriz, Reinhard Ullmann, Seyedeh Sedigheh Abedini, Sahar Esmaeeli Nieh, Saeid Hosseini Amini, Chandan Goswami, Andreas Tzschach, Lars Riff Jensen, Dietmar Schmitz, Hans-Hilger Ropers, Hossein Najmabadi, and Andreas Walter Kuss, "A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation.," The American Journal of Human Genetics: AJHG 81 (4), 792-798 (2007).

Harry Scherthan, Michael Abend, Kerstin Müller, Christina Beine, Herbert Braselmann, Horst Zitzelsberger, Frank M. Köhn, Hans Pillekamp, Ralf Schiener, Oliver Das, Ralf U. Peter, Gerhard Herzog, Andreas Tzschach, Harald Doerr, Theodor M. Fliedner, and Viktor Meineke, "Radiation induced late effects in two affected individuals of the Lilo radiation accident.," Radiation Research 167 (5), 615-623 (2007).

Hossein Najmabadi, Mohammad Mahdi Motazacker, Masoud Garshasbi, Kimia Kahrizi, Andreas Tzschach, Wei Chen, Farkhondeh Behjati, Valeh Hadavi, Sahar Esmaeeli Nieh, Seyedeh Sedigheh Abedini, Reza Vazifehmand, Saghar Ghasemi Firouzabadi, Payman Jamali, Masoumeh Falah, Seyed Morteza Seifati, Annette Grüters, Steffen Lenzner, Lars R. Jensen, Franz Rüschendorf, Andreas W. Kuss, and Hans-Hilger Ropers, "Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.," Human Genetics 121 (1), 43-48 (2007).