Publikationen von Andreas Tzschach

Andreas Walter Kuss, Masoud Garshasbi, Kimia Kahrizi, Andreas Tzschach, Farkhondeh Behjati, Hossein Darvish, Lia Abbasi-Moheb, Lucia Puettmann, Agnes Zecha, Robert Weißmann, Hao Hu, Marzieh Mohseni, Seyedeh Sedigheh Abedini, Anna Rajab, Christoph Hertzberg, Dagmar Wieczorek, Reinhard Ullmann, Saghar Saghar Ghasemi-Firouzabadi, Susan Banihashemi, Sanaz Arzhangi, Valeh Hadavi, Gholamreza Bahrami-Monajemi, Mahboubeh Kasiri, Masoumeh Falah, Pooneh Nikuei, Atefeh Dehghan, Masoumeh Sobhani, Payman Jamali, Hans-Hilger Ropers, and Hossein Najmabadi, "Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 nvel loci and several mutation hotspots," Human Genetics 129 (2), 141-148 (2010).

H. . Darvish, Sahar Esmaeeli Nieh, G. B. Monajemi, M. Mohseni, S. Ghasemi-Firouzabadi, S. S. Abedini, I. Bahman, P. P Jamali, S. Azimi, F. Mojahedi, A. Dehghan, Y. Shafeghati, A. Jankhah, M. Falah, M. J. Soltani Banavandi, M. Ghani-Kakhi, M. Garshasbi, F. Rakhshani, A. Naghavi, Andreas Tzschach, H. Neitzel, Hans-Hilger Ropers, Andreas W. Kuss, F. Behjati, K. Kahrizi, and Hossein Najmabadi, "A clinical and molecular genetic study of 112 Iranian families with primary microcephaly.," Journal of Medical Genetics. 47 (12), 823-828 (2010).

Ariana Kariminejad, Roxana Kariminejad, Andreas Tzschach, Hamid Najafi, Alischo Ahmed, Reinhard Ullmann, Hans-Hilger Ropers, and Mohamad Hasan Kariminejad, "11q14.1-11q22.1 deletion in a 1-year-old male with minor dysmorphic features.," American Journal of Medical Genetics. Part A. 152A (10), 2651-2655 (2010).

Kimia Kahrizi, Cougar Hao Hu, Masoud Garshasbi, Seyedeh Sedigheh Abedini, Shirin Ghadami, Roxana Kariminejad, Reinhard Ullmann, Wei Chen, Hans-Hilger Ropers, Andreas W. Kuss, Hossein Najmabadi, and Andreas Tzschach, "Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3.," European Journal of Human Genetics 19, 115-117 (2010).

Yousef Shafeghati, Kimia Kahrizi, Hossein Najmabadi, Andreas Walter Kuss, Hans-Hilger Ropers, and Andreas Tzschach, "Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature.," European Journal of Pediatrics 169 (12), 1535-1539 (2010).

Joanna Walczak-Sztulpa, Jonathan Eggenschwiler, Daniel Osborn, Desmond A. Brown, Francesco Emma, Claus Klingenberg, Raoul C. Hennekam, Giuliano Torre, Masoud Garshasbi, Andreas Tzschach, Malgorzata Szczepanska, Marian Krawczynski, Jacek Zachwieja, Danuta Zwolinska, Philip L. Beales, Hans-Hilger Ropers, Anna Latos-Bielenska, and Andreas W. Kuss, "Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.," American Journal of Human Genetics 86 (6), 949-956 (2010).

Hao Hu, Klaus Wrogemann, Vera M. Kalscheuer, Andreas Tzschach, Hugues Richard, Stefan A. Haas, Corinna Menzel, Melanie Bienek, Guy Froyen, Martine Raynaud, Hans Van Bokhoven, Jamel Chelly, Hans-Hilger Ropers, and Wei Chen, "Erratum to: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing.," The Hugo Journal 3 (1-4), 83-83 (2010).

Andreas Tzschach, Corinna Menzel, Fikret Erdogan, Erman Salih Istifli, Martin Rieger, Angela Ovens-Raeder, Alfons Macke, Hans-Hilger Ropers, Reinhard Ullmann, and Vera M. Kalscheuer, "Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement.," American Journal of Medical Genetics. Part A. 152A (4), 1008-1012 (2010).

B. Budny, M. Badura-Stronka, A. Materna-Kiryluk, Andreas Tzschach, M. Raynaud, A. Latos-Bielenska, and Hans-Hilger Ropers, "Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome.," Clinical Genetics: an International Journal of Genetics in Medicine 77 (6), 541-551 (2010).

Andreas Tzschach, Anne-Marie Bisgaard, Maria Kirchhoff, Luitgard M. Graul-Neumann, Heidemarie Neitzel, Stephanie Page, Alischo Ahmed, Ines Müller, Fikret Erdogan, Hans-Hilger Ropers, Vera M. Kalscheuer, and Reinhard Ullmann, "Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11.," European Journal of Human Genetics: EJHG 18 (3), 291-295 (2010).

Andreas Tzschach, Anne-Marie Bisgaard, Maria Kirchhoff, Luitgard M. Graul-Neumann, Heidemarie Neitzel, Stephanie Page, Alischo Ahmed, Ines Müller, Fikret Erdogan, Hans-Hilger Ropers, Vera M. Kalscheuer, and Reinhard Ullmann, "Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11.," European Journal of Human Genetics: EJHG 18 (3), 291-295 (2010).

Maila Giannandrea, Veronica Bianchi, Maria Lidia Mignogna, Alessandra Sirri, Salvatore Carrabino, Errico D'Elia, Matteo Vecellio, Silvia Russo, Francesca Cogliati, Lidia Larizza, Hans-Hilger Ropers, Andreas Tzschach, Vera M. Kalscheuer, Barbara Oehl-Jaschkowitz, Charles E. Schwartz, Jozef Gecz, Hilde Van Esch, Martine Raynaud, Jamel Chelly, Arjan P.M. de Brouwer, Daniela Toniolo, and Patrizia D'Adamo, "Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.," The American Journal of Human Genetics 86 (2), 185-195 (2010).

Lars R. Jensen, Heinz Bartenschlager, Sinitdhorn Rujirabanjerd, Andreas Tzschach, Astrid Nümann, Andreas R. Janecke, Ralf Spörle, Sigmar Stricker, Martine Raynaud, John Nelson, Anna Hackett, Jean-Pierre Fryns, Jamel Chelly, Arjan P. M. de Brouwer, Ben Hamel, Jozef Gecz, Hans-Hilger Ropers, and Andreas W. Kuss, "A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C," Pathogenetics 3, 2-2 (2010).

Lars R. Jensen, Heinz Bartenschlager, Sinitdhorn Rujirabanjerd, Andreas Tzschach, Astrid Nümann, Andreas R. Janecke, Ralf Spörle, Sigmar Stricker, Martine Raynaud, John Nelson, Anna Hackett, Jean-Pierre Fryns, Jamel Chelly, Arjan P. M. de Brouwer, Ben Hamel, Jozef Gecz, Hans-Hilger Ropers, and Andreas W. Kuss, "A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylose KDM5C.," Pathogenetics 2 (3), 2-2 (2010).

Wei Chen, Reinhard Ullmann, Claudia Langnick, Corinna Menzel, Zofia Wotschofsky, Hao Hu, Andreas Döring, Yuhui Hu, Hui Kang, Andreas Tzschach, Maria Hoeltzenbein, Heidemarie Neitzel, Susanne Markus, Eberhard Wiedersberg, Gerd Kistner, Conny M. A. van Ravenswaaij-Arts, Tjitske Kleefstra, Vera M. Kalscheuer, and Hans-Hilger Ropers, "Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing," European Journal of Human Genetics (2010).

Asif Mir, Liana Kaufman, Abdul Noor, Mahdi M. Motazacker, Talal Jamil, Matloob Azam, Kimia Kahrizi, Muhammad Arshad Rafiq, Rosanna Weksberg, Tanveer Nasr, Farooq Naeem, Andreas Tzschach, Andreas W. Kuss, Gisele E. Ishak, Dan Doherty, Hans-Hilger Ropers, A. James Barkovich, Hossein Najmabadi, Muhammad Ayub, and John B. Vincent, "Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation," American Journal of Human Genetics 85 (6), 909-915 (2009).

Ariana Kariminejad, Roxana Kariminejad, Andreas Tzschach, Reinhard Ullmann, Alisho Ahmed, Alaleh Asghari-Roodsari, Shadab Salehpour, Fariba Afroozan, Hans-Hilger Ropers, and Mohammad Hasan Kariminejad, "Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: Association of extra copy of MSX2 with craniosynostosis," American Journal of Medical Genetics Part A 149 (7), 1544-1549 (2009).

Andreas Tzschach, "Genetik der nichtsyndromalen geistigen Behinderung," Medizinische Genetik 21 (2), 231-236 (2009).

A. Tzschach, C. Ramel, A. Kron, B. Seipel, C. Wüster, U. Cordes, T. Liehr, M. Hoeltzenbein, C. Menzel, H.-H. Ropers, R. Ullmann, V. Kalscheuer, J. Decker, and D. Steinberger, "Hypergonadotropic hypogonadism in a patient with inv ins (2;4)," International Journal of Andrology 32 (3), 226-230 (2009).

Luitgard M. Graul-Neumann, Karola M. Stieler, Ulrike Blume-Peytavi, and Andreas Tzschach, "Autosomal dominant inheritance in a large family with focal facial dermal dysplasia (Brauer-Setleis syndrome)," American Journal of Medical Genetics Part A 149 (4), 746-750 (2009).