Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study von Rauch, Anita, Prof, Wieczorek, Dagmar, MD, Graf, Elisabeth, MSc, Wieland, Thomas, MSc, Endele, Sabine, PhD, Schwarzmayr, Thomas, MSc, Albrecht, Beate, MD, Bartholdi, Deborah, MD, Beygo, Jasmin, MSc, Di Donato, Nataliya, MD, Dufke, Andreas, MD, Cremer, Kirsten, MD, Hempel, Maja, MD, Horn, Denise, MD, Hoyer, Juliane, MD, Joset, Pascal, PhD, Röpke, Albrecht, PhD, Moog, Ute, MD, Riess, Angelika, MD, Thiel, Christian T, MD, Tzschach, Andreas, MD, Wiesener, Antje, MD, Wohlleber, Eva, MD, Zweier, Christiane, MD, Ekici, Arif B, PhD, Zink, Alexander M, MSc, Rump, Andreas, PhD, Meisinger, Christa, MD, Grallert, Harald, PhD, Sticht, Heinrich, PhD, Schenck, Annette, PhD, Engels, Hartmut, PhD, Rappold, Gudrun, Prof, Schröck, Evelin, Prof, Wieacker, Peter, Prof, Riess, Olaf, Prof, Meitinger, Thomas, Prof, Reis, André, Prof, Strom, Tim M, Dr

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Über die Reaktion zwischen Diphenylsulfoxyd und Silicium(IV)‐halogeniden von Issleib, K., Tzschach, M.

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Über die Reaktion zwischen Diphenylsulfoxyd und Silicium(IV)-halogeniden von Issleib, K., Tzschach, M.

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The power of the Mediator complex—Expanding the genetic architecture and phenotypic spectrum of MED12‐related disorders von Charzewska, A., Maiwald, R., Kahrizi, K., Oehl‐Jaschkowitz, B., Dufke, A., Lemke, J.R., Enders, H., Najmabadi, H., Tzschach, A., Hachmann, W., Jensen, C., Bienek, M., Poznański, J., Nawara, M., Chilarska, T., Obersztyn, E., Hoffman‐Zacharska, D., Gos, M., Bal, J., Kalscheuer, V.M.

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PIK3R1 mutations in SHORT syndrome von Schroeder, C., Riess, A., Bonin, M., Bauer, P., Riess, O., Döbler-Neumann, M., Wieser, S., Moog, U., Tzschach, A.

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Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation von Jensen, Lars Riff, Amende, Marion, Gurok, Ulf, Moser, Bettina, Gimmel, Verena, Tzschach, Andreas, Janecke, Andreas R., Tariverdian, Gholamali, Chelly, Jamel, Fryns, Jean-Pierre, Van Esch, Hilde, Kleefstra, Tjitske, Hamel, Ben, Moraine, Claude, Gécz, Jozef, Turner, Gillian, Reinhardt, Richard, Kalscheuer, Vera M., Ropers, Hans-Hilger, Lenzner, Steffen

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Musculoskeletal Disease in MDA5‐Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy von de Carvalho, Luciana Martins, Ngoumou, Gonza, Park, Ji Woo, Ehmke, Nadja, Deigendesch, Nikolaus, Kitabayashi, Naoki, Melki, Isabelle, Souza, Flávio Falcäo L., Tzschach, Andreas, Nogueira‐Barbosa, Marcello H., Ferriani, Virgínia, Louzada‐Junior, Paulo, Marques, Wilson, Lourenço, Charles M., Horn, Denise, Kallinich, Tilmann, Stenzel, Werner, Hur, Sun, Rice, Gillian I., Crow, Yanick J.

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X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes von Hu, H, Haas, S A, Chelly, J, Van Esch, H, Raynaud, M, de Brouwer, A P M, Weinert, S, Froyen, G, Frints, S G M, Laumonnier, F, Zemojtel, T, Love, M I, Richard, H, Emde, A-K, Bienek, M, Jensen, C, Hambrock, M, Fischer, U, Langnick, C, Feldkamp, M, Wissink-Lindhout, W, Lebrun, N, Castelnau, L, Rucci, J, Montjean, R, Dorseuil, O, Billuart, P, Stuhlmann, T, Shaw, M, Corbett, M A, Gardner, A, Willis-Owen, S, Tan, C, Friend, K L, Belet, S, van Roozendaal, K E P, Jimenez-Pocquet, M, Moizard, M-P, Ronce, N, Sun, R, O'Keeffe, S, Chenna, R, van Bömmel, A, Göke, J, Hackett, A, Field, M, Christie, L, Boyle, J, Haan, E, Nelson, J, Turner, G, Baynam, G, Gillessen-Kaesbach, G, Müller, U, Steinberger, D, Budny, B, Badura-Stronka, M, Latos-Bieleńska, A, Ousager, L B, Wieacker, P, Rodríguez Criado, G, Bondeson, M-L, Annerén, G, Dufke, A, Cohen, M, Van Maldergem, L, Vincent-Delorme, C, Echenne, B, Simon-Bouy, B, Kleefstra, T, Willemsen, M, Fryns, J-P, Devriendt, K, Ullmann, R, Vingron, M, Wrogemann, K, Wienker, T F, Tzschach, A, van Bokhoven, H, Gecz, J, Jentsch, T J, Chen, W, Ropers, H-H, Kalscheuer, V M

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases von Mensah, Martin A., Niskanen, Henri, Magalhaes, Alexandre P., Basu, Shaon, Kircher, Martin, Sczakiel, Henrike L., Reiter, Alisa M. V., Elsner, Jonas, Meinecke, Peter, Biskup, Saskia, Chung, Brian H. Y., Dombrowsky, Gregor, Eckmann-Scholz, Christel, Hitz, Marc Phillip, Hoischen, Alexander, Holterhus, Paul-Martin, Hülsemann, Wiebke, Kahrizi, Kimia, Kalscheuer, Vera M., Kan, Anita, Krumbiegel, Mandy, Kurth, Ingo, Leubner, Jonas, Longardt, Ann Carolin, Moritz, Jörg D., Najmabadi, Hossein, Skipalova, Karolina, Snijders Blok, Lot, Tzschach, Andreas, Wiedersberg, Eberhard, Zenker, Martin, Garcia-Cabau, Carla, Buschow, René, Salvatella, Xavier, Kraushar, Matthew L., Mundlos, Stefan, Caliebe, Almuth, Spielmann, Malte, Horn, Denise, Hnisz, Denes

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A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability von LINGLI HUANG, JOLLY, Lachlan A, HACKETT, Anna, FIELD, Michael, FROYEN, Guy, HAO HU, HAAS, Stefan A, ROPERS, Hans-Hilger, KALSCHEUER, Vera M, CORBETT, Mark A, GECZ, Jozef, WILLIS-OWEN, Saffron, GARDNER, Alison, KUMAR, Raman, DOUGLAS, Evelyn, SHOUBRIDGE, Cheryl, WIECZOREK, Dagmar, TZSCHACH, Andreas, COHEN, Monika

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ST3GAL3 Mutations Impair the Development of Higher Cognitive Functions von Hu, Hao, Eggers, Katinka, Chen, Wei, Garshasbi, Masoud, Motazacker, M. Mahdi, Wrogemann, Klaus, Kahrizi, Kimia, Tzschach, Andreas, Hosseini, Masoumeh, Bahman, Ideh, Hucho, Tim, Mühlenhoff, Martina, Gerardy-Schahn, Rita, Najmabadi, Hossein, Ropers, H. Hilger, Kuss, Andreas W.

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Genetics of intellectual disability in consanguineous families von Hu, Hao, Kahrizi, Kimia, Musante, Luciana, Fattahi, Zohreh, Herwig, Ralf, Hosseini, Masoumeh, Oppitz, Cornelia, Abedini, Seyedeh Sedigheh, Suckow, Vanessa, Larti, Farzaneh, Beheshtian, Maryam, Lipkowitz, Bettina, Akhtarkhavari, Tara, Mehvari, Sepideh, Otto, Sabine, Mohseni, Marzieh, Arzhangi, Sanaz, Jamali, Payman, Mojahedi, Faezeh, Taghdiri, Maryam, Papari, Elaheh, Soltani Banavandi, Mohammad Javad, Akbari, Saeide, Tonekaboni, Seyed Hassan, Dehghani, Hossein, Ebrahimpour, Mohammad Reza, Bader, Ingrid, Davarnia, Behzad, Cohen, Monika, Khodaei, Hossein, Albrecht, Beate, Azimi, Sarah, Zirn, Birgit, Bastami, Milad, Wieczorek, Dagmar, Bahrami, Gholamreza, Keleman, Krystyna, Vahid, Leila Nouri, Tzschach, Andreas, Gärtner, Jutta, Gillessen-Kaesbach, Gabriele, Varaghchi, Jamileh Rezazadeh, Timmermann, Bernd, Pourfatemi, Fatemeh, Jankhah, Aria, Chen, Wei, Nikuei, Pooneh, Kalscheuer, Vera M., Oladnabi, Morteza, Wienker, Thomas F., Ropers, Hans-Hilger, Najmabadi, Hossein

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Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability von Abbasi-Moheb, Lia, Mertel, Sara, Gonsior, Melanie, Nouri-Vahid, Leyla, Kahrizi, Kimia, Cirak, Sebahattin, Wieczorek, Dagmar, Motazacker, M. Mahdi, Esmaeeli-Nieh, Sahar, Cremer, Kirsten, Weißmann, Robert, Tzschach, Andreas, Garshasbi, Masoud, Abedini, Seyedeh S., Najmabadi, Hossein, Ropers, H. Hilger, Sigrist, Stephan J., Kuss, Andreas W.

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A clinical and molecular genetic study of 112 Iranian families with primary microcephaly von Darvish, H, Esmaeeli-Nieh, S, Monajemi, G B, Mohseni, M, Ghasemi-Firouzabadi, S, Abedini, S S, Bahman, I, Jamali, P, Azimi, S, Mojahedi, F, Dehghan, A, Shafeghati, Y, Jankhah, A, Falah, M, Soltani Banavandi, M J, Ghani-Kakhi, M, Garshasbi, M, Rakhshani, F, Naghavi, A, Tzschach, A, Neitzel, H, Ropers, H H, Kuss, A W, Behjati, F, Kahrizi, K, Najmabadi, H

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A Defect in the TUSC3 Gene Is Associated with Autosomal Recessive Mental Retardation von Garshasbi, Masoud, Hadavi, Valeh, Habibi, Haleh, Kahrizi, Kimia, Kariminejad, Roxana, Behjati, Farkhondeh, Tzschach, Andreas, Najmabadi, Hossein, Ropers, Hans Hilger, Kuss, Andreas Walter

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Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2 von Bögershausen, Nina, Gatinois, Vincent, Riehmer, Vera, Kayserili, Hülya, Becker, Jutta, Thoenes, Michaela, Simsek-Kiper, Pelin Özlem, Barat-Houari, Mouna, Elcioglu, Nursel H., Wieczorek, Dagmar, Tinschert, Sigrid, Sarrabay, Guillaume, Strom, Tim M., Fabre, Aurélie, Baynam, Gareth, Sanchez, Elodie, Nürnberg, Gudrun, Altunoglu, Umut, Capri, Yline, Isidor, Bertrand, Lacombe, Didier, Corsini, Carole, Cormier-Daire, Valérie, Sanlaville, Damien, Giuliano, Fabienne, Le Quan Sang, Kim-Hanh, Kayirangwa, Honorine, Nürnberg, Peter, Meitinger, Thomas, Boduroglu, Koray, Zoll, Barbara, Lyonnet, Stanislas, Tzschach, Andreas, Verloes, Alain, Di Donato, Nataliya, Touitou, Isabelle, Netzer, Christian, Li, Yun, Geneviève, David, Yigit, Gökhan, Wollnik, Bernd

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KCNC1‐related disorders: new de novo variants expand the phenotypic spectrum von Park, Joohyun, Koko, Mahmoud, Hedrich, Ulrike B. S., Hermann, Andreas, Cremer, Kirsten, Haberlandt, Edda, Grimmel, Mona, Alhaddad, Bader, Beck‐Woedl, Stefanie, Harrer, Merle, Karall, Daniela, Kingelhoefer, Lisa, Tzschach, Andreas, Matthies, Lars C., Strom, Tim M., Ringelstein, Erich Bernd, Sturm, Marc, Engels, Hartmut, Wolff, Markus, Lerche, Holger, Haack, Tobias B.

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BOD1 Is Required for Cognitive Function in Humans and Drosophila von Esmaeeli-Nieh, Sahar, Fenckova, Michaela, Porter, Iain M, Motazacker, M Mahdi, Nijhof, Bonnie, Castells-Nobau, Anna, Asztalos, Zoltan, Weißmann, Robert, Behjati, Farkhondeh, Tzschach, Andreas, Felbor, Ute, Scherthan, Harry, Sayfati, Seyed Morteza, Ropers, H Hilger, Kahrizi, Kimia, Najmabadi, Hossein, Swedlow, Jason R, Schenck, Annette, Kuss, Andreas W

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High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease von Erdogan, F, Larsen, L A, Zhang, L, Tümer, Z, Tommerup, N, Chen, W, Jacobsen, J R, Schubert, M, Jurkatis, J, Tzschach, A, Ropers, H-H, Ullmann, R

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Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome von Budny, B, Badura-Stronka, M, Materna-Kiryluk, A, Tzschach, A, Raynaud, M, Latos-Bielenska, A, Ropers, HH

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