A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring

Por Rump, Andreas, Hildebrand, Laura, Tzschach, Andreas, Ullmann, Reinhard, Schrock, Evelin, Mitter, Diana
Publicado em 2013

An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4

Por Kahrizi, Kimia, Najmabadi, Hossein, Kariminejad, Roxana, Jamali, Payman, Malekpour, Mahdi, Garshasbi, Masoud, Ropers, Hans Hilger, Kuss, Andreas Walter, Tzschach, Andreas
Publicado em 2009

A Defect in the TUSC3 Gene Is Associated with Autosomal Recessive Mental Retardation

Por Garshasbi, Masoud, Hadavi, Valeh, Habibi, Haleh, Kahrizi, Kimia, Kariminejad, Roxana, Behjati, Farkhondeh, Tzschach, Andreas, Najmabadi, Hossein, Ropers, Hans Hilger, Kuss, Andreas Walter
Publicado em 2008

Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT

Por Neeve, Vivienne C.M., Pyle, Angela, Boczonadi, Veronika, Gomez-Duran, Aurora, Griffin, Helen, Santibanez-Koref, Mauro, Gaiser, Ulrike, Bauer, Peter, Tzschach, Andreas, Chinnery, Patrick F., Horvath, Rita
Publicado em 2013

Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3

Por Kahrizi, Kimia, Hu, Cougar Hao, Garshasbi, Masoud, Abedini, Seyedeh Sedigheh, Ghadami, Shirin, Kariminejad, Roxana, Ullmann, Reinhard, Chen, Wei, Ropers, H-Hilger, Kuss, Andreas W, Najmabadi, Hossein, Tzschach, Andreas
Publicado em 2011

Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11

Por Tzschach, Andreas, Bisgaard, Anne-Marie, Kirchhoff, Maria, Graul-Neumann, Luitgard M, Neitzel, Heidemarie, Page, Stephanie, Ahmed, Alischo, Müller, Ines, Erdogan, Fikret, Ropers, Hans-Hilger, Kalscheuer, Vera M, Ullmann, Reinhard
Publicado em 2010

Erratum to: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing

Por Hu, Hao, Wrogemann, Klaus, Kalscheuer, Vera, Tzschach, Andreas, Richard, Hugues, Haas, Stefan A., Menzel, Corinna, Bienek, Melanie, Froyen, Guy, Raynaud, Martine, Van Bokhoven, Hans, Chelly, Jamel, Ropers, Hilger, Chen, Wei
Publicado em 2010

Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing

Por Hu, Hao, Wrogemann, Klaus, Kalscheuer, Vera, Tzschach, Andreas, Richard, Hugues, Haas, Stefan A., Menzel, Corinna, Bienek, Melanie, Froyen, Guy, Raynaud, Martine, Van Bokhoven, Hans, Chelly, Jamel, Ropers, Hilger, Chen, Wei
Publicado em 2010

Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12

Por Goubau, Christophe, Devriendt, Koen, Van der Aa, Nathalie, Crepel, An, Wieczorek, Dagmar, Kleefstra, Tjitske, Willemsen, Marjolein H, Rauch, Anita, Tzschach, Andreas, de Ravel, Thomy, Leemans, Peter, Van Geet, Chris, Buyse, Gunnar, Freson, Kathleen
Publicado em 2013

X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity

Por Czeschik, Johanna Christina, Bauer, Peter, Buiting, Karin, Dufke, Claudia, Guillén-Navarro, Encarna, Johnson, Diana S, Koehler, Udo, López-González, Vanesa, Lüdecke, Hermann-Josef, Male, Alison, Morrogh, Deborah, Rieß, Angelika, Tzschach, Andreas, Wieczorek, Dagmar, Kuechler, Alma
Publicado em 2013

ST3GAL3 Mutations Impair the Development of Higher Cognitive Functions

Por 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.
Publicado em 2011

A Balanced Chromosomal Translocation Disrupting ARHGEF9 Is Associated With Epilepsy, Anxiety, Aggression, and Mental Retardation

Por Kalscheuer, Vera M., Musante, Luciana, Fang, Cheng, Hoffmann, Kirsten, Fuchs, Celine, Carta, Eloisa, Deas, Emma, Venkateswarlu, Kanamarlapudi, Menzel, Corinna, Ullmann, Reinhard, Tommerup, Niels, Dalprà, Leda, Tzschach, Andreas, Selicorni, Angelo, Lüscher, Bernhard, Ropers, Hans-Hilger, Harvey, Kirsten, Harvey, Robert J.
Publicado em 2009

A Defect in the Ionotropic Glutamate Receptor 6 Gene (GRIK2) Is Associated with Autosomal Recessive Mental Retardation

Por Motazacker, Mohammad Mahdi , Rost, Benjamin Rainer , Hucho, Tim , Garshasbi, Masoud , Kahrizi, Kimia , Ullmann, Reinhard , Abedini, Seyedeh Sedigheh , Nieh, Sahar Esmaeeli , Amini, Saeid Hosseini , Goswami, Chandan , Tzschach, Andreas , Jensen, Lars Riff , Schmitz, Dietmar , Ropers, Hans Hilger , Najmabadi, Hossein , Kuss, Andreas Walter 
Publicado em 2007

Mapping translocation breakpoints by next-generation sequencing

Por Chen, Wei, Kalscheuer, Vera, Tzschach, Andreas, Menzel, Corinna, Ullmann, Reinhard, Schulz, Marcel Holger, Erdogan, Fikret, Li, Na, Kijas, Zofia, Arkesteijn, Ger, Pajares, Isidora Lopez, Goetz-Sothmann, Margret, Heinrich, Uwe, Rost, Imma, Dufke, Andreas, Grasshoff, Ute, Glaeser, Birgitta, Vingron, Martin, Ropers, H. Hilger
Publicado em 2008

A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C

Por Jensen, Lars R, Bartenschlager, Heinz, Rujirabanjerd, Sinitdhorn, Tzschach, Andreas, Nümann, Astrid, Janecke, Andreas R, Spörle, Ralf, Stricker, Sigmar, Raynaud, Martine, Nelson, John, Hackett, Anna, Fryns, Jean-Pierre, Chelly, Jamel, de Brouwer, Arjan PM, Hamel, Ben, Gecz, Jozef, Ropers, Hans-Hilger, Kuss, Andreas W
Publicado em 2010

Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing

Por Chen, Wei, Ullmann, Reinhard, Langnick, Claudia, Menzel, Corinna, Wotschofsky, Zofia, Hu, Hao, Döring, Andreas, Hu, Yuhui, Kang, Hui, Tzschach, Andreas, Hoeltzenbein, Maria, Neitzel, Heidemarie, Markus, Susanne, Wiedersberg, Eberhard, Kistner, Gerd, van Ravenswaaij-Arts, Conny MA, Kleefstra, Tjitske, Kalscheuer, Vera M, Ropers, Hans-Hilger
Publicado em 2010

Cranioectodermal Dysplasia, Sensenbrenner Syndrome, Is a Ciliopathy Caused by Mutations in the IFT122 Gene

Por Walczak-Sztulpa, Joanna, Eggenschwiler, Jonathan, Osborn, Daniel, Brown, Desmond A., Emma, Francesco, Klingenberg, Claus, Hennekam, Raoul C., Torre, Giuliano, Garshasbi, Masoud, Tzschach, Andreas, Szczepanska, Malgorzata, Krawczynski, Marian, Zachwieja, Jacek, Zwolinska, Danuta, Beales, Philip L., Ropers, Hans-Hilger, Latos-Bielenska, Anna, Kuss, Andreas W.
Publicado em 2010

Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability

Por 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.
Publicado em 2012

A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability

Por Huang, Lingli, Jolly, Lachlan A., Willis-Owen, Saffron, Gardner, Alison, Kumar, Raman, Douglas, Evelyn, Shoubridge, Cheryl, Wieczorek, Dagmar, Tzschach, Andreas, Cohen, Monika, Hackett, Anna, Field, Michael, Froyen, Guy, Hu, Hao, Haas, Stefan A., Ropers, Hans-Hilger, Kalscheuer, Vera M., Corbett, Mark A., Gecz, Jozef
Publicado em 2012

Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation

Por 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
Publicado em 2005