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Genomes and Genes | Andreas TzschachSummaryCountry: Germany Publications
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Publications
Interstitial 9q34.11-q34.13 deletion in a patient with severe intellectual disability, hydrocephalus, and cleft lip/palateAndreas Tzschach
Institute of Human Genetics, University of Tuebingen, Tuebingen, Germany
Am J Med Genet A 158:1709-12. 2012..11-q34.13. Reports of additional patients with aberrations in this region will be needed to establish karyotype-phenotype correlations and to gain information on the contribution of individual genes for the clinical manifestations...- Christianson syndrome in a patient with an interstitial Xq26.3 deletionAndreas Tzschach
Department Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany
Am J Med Genet A 155:2771-4. 2011..This patient broadens the spectrum of SLC9A6 mutations and contributes to the clinical delineation of Christianson syndrome. This is also the first patient with a deletion affecting both SLC9A6 and the complete FHL1 gene... - Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangementAndreas Tzschach
Max Planck Institute for Molecular Genetics, Human Molecular Genetics, Berlin, Germany
Am J Med Genet A 152:1008-12. 2010..Reports of patients with overlapping deletions will be needed to elucidate the role of individual genes and to establish genotype-phenotype correlations... 
Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGHAndreas Tzschach
Max Planck Institute for Molecular Genetics, Berlin, Germany
Am J Med Genet A 143:333-7. 2007..The absence of limb abnormalities in this patient suggests either a location of the SHFM1 causing factor distal to this deletion, or reduced penetrance of haploinsufficiency of a SHFM1 factor within the deleted interval...- A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian familyMasoud Garshasbi
Department Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany
Am J Med Genet A 155:1976-80. 2011..This argues for a more prominent role of TUSC3 in the etiology of this genetically heterogeneous disorder as compared to most of the other so far identified ARMR genes... 
Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11Andreas Tzschach
Department Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany
Eur J Hum Genet 18:291-5. 2010..This finding suggests that haploinsufficiency of C10orf11 contributes to the cognitive defects in 10q22 deletion patients...- Blepharophimosis-ptosis-epicanthus inversus syndrome in a girl with chromosome translocation t(2;3)(q33;q23)Andreas Tzschach
Max Planck Institute for Molecular Genetics, Berlin, Germany
Ophthalmic Genet 29:37-40. 2008.... - Mutations in NSUN2 cause autosomal-recessive intellectual disabilityLia Abbasi-Moheb
Max Planck Institute for Molecular Genetics, Ihnestraße 73, Berlin, Germany
Am J Hum Genet 90:847-55. 2012..Moreover, our observations from the Drosophila model point toward an evolutionarily conserved role of RNA methylation in normal cognitive development... - Mapping translocation breakpoints by next-generation sequencingWei Chen
Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany
Genome Res 18:1143-9. 2008..Its implementation will greatly facilitate large-scale breakpoint mapping and gene finding in patients with disease-associated balanced translocations... - Characterization of interstitial Xp duplications in two families by tiling path array CGHAndreas Tzschach
Max Planck Institute for Molecular Genetics, Berlin, Germany
Am J Med Genet A 146:197-203. 2008..These comprise known mental retardation genes such as MAOA, NDP, TM4SF2, NDP, RSK2, and CDKL5. Duplication of MAOA will be discussed as a possible cause of obesity... - ST3GAL3 mutations impair the development of higher cognitive functionsHao Hu
Department for Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany
Am J Hum Genet 89:407-14. 2011..Our data provide conclusive evidence that glycotopes formed by ST3Gal-III are prerequisite for attaining and/or maintaining higher cognitive functions... - Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencingWei Chen
Max Planck Institute for Molecular Genetics, Berlin, Germany
Eur J Hum Genet 18:539-43. 2010..Our results show the feasibility of paired-end sequencing of systematic breakpoint mapping and gene finding in patients with disease-associated chromosome rearrangements... - Interstitial deletion 2p11.2-p12: report of a patient with mental retardation and review of the literatureAndreas Tzschach
Institute of Medical Genetics, Charite Universitatsmedizin Berlin, Berlin, Germany
Am J Med Genet A 149:242-5. 2009..Additional patients with well-characterized deletions within 2p11.2 and 2p12 will be needed to determine the role of individual genes for the clinical manifestations... - Chromosome deletions in 13q33-34: report of four patients and review of the literatureJoanna Walczak-Sztulpa
Max Planck Institute for Molecular Genetics, Berlin, Germany
Am J Med Genet A 146:337-42. 2008..Molecular cytogenetic definition of a common deleted region in all patients suggests ARHGEF7 as a candidate gene for mental retardation and microcephaly... - Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspotsAndreas Walter Kuss
Max Planck Institute for Molecular Genetics, Ihnestr 73, 14195 Berlin, Germany
Hum Genet 129:141-8. 2011..These findings will be instrumental in the identification of the underlying genes... - Cohen syndrome diagnosis using whole genome arraysNúria Rivera-Brugués
Institute of Human Genetics, Helmholtz Zentrum Munchen, Neuherberg, Germany
J Med Genet 48:136-40. 2011..Point mutations, deletions and duplications have been described in this gene. Oligonucleotide arrays have reached a resolution which allows the detection of intragenic deletions and duplications, especially in large genes such as COH1... - Autosomal dominant inheritance in a large family with focal facial dermal dysplasia (Brauer-Setleis syndrome)Luitgard M Graul-Neumann
Institute of Human Genetics, Charite Universitatsmedizin Berlin, Berlin, Germany
Am J Med Genet A 149:746-50. 2009..Although this family is not large enough to yield significant results in linkage analysis, it may, in combination with other families, contribute to the identification of a gene locus for this intriguing ectodermal disorder... - A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardationVera M Kalscheuer
Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany
Hum Mutat 30:61-8. 2009..These results suggest that collybistin has a key role in membrane trafficking of gephyrin and selected GABA(A) receptor subtypes involved in epilepsy, anxiety, aggression, insomnia, and learning and memory... - A defect in the TUSC3 gene is associated with autosomal recessive mental retardationMasoud Garshasbi
Max Planck Institute for Molecular Genetics, D 14195 Berlin, Germany
Am J Hum Genet 82:1158-64. 2008..TUSC3 is only the fifth gene implicated in NS-ARMR and the first for which mutations have been reported in more than one family... - Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1Lars R Jensen
Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany
Eur J Hum Genet 19:717-20. 2011..For four mutations affecting ATRX (p.1761M>T), PQBP1 (p.155R>X) and SLC6A8 (p.390P>L and p.477S>L), we provide evidence for a functional involvement of these changes in the aetiology of intellectual disability... - Interstitial 3p25.3-p26.1 deletion in a patient with intellectual disabilityAngelika Riess
Institute of Human Genetics, University of Tuebingen, Germany
Am J Med Genet A 158:2587-90. 2012..Thus, the patient broadens our knowledge of the phenotypic consequences of deletions in 3p25.3-p26.1 and facilitates genotype-phenotype correlations for chromosome aberrations of this region... - Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 geneJoanna Walczak-Sztulpa
Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin 14195, Germany
Am J Hum Genet 86:949-56. 2010..Still, by identifying CED as a ciliary disorder, our study suggests that the causative mutations in the unresolved cases most likely affect primary cilia function too... - Czech dysplasia: report of a large family and further delineation of the phenotypeAndreas Tzschach
Institute of Medical Genetics, Charite Universitatsmedizin Berlin, Berlin, Germany
Am J Med Genet A 146:1859-64. 2008..The family provides further evidence for the remarkably uniform manifestation of the clinical and radiological abnormalities and adds hearing loss to the list of major anomalies of Czech dysplasia... - Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delayFikret Erdogan
Max Planck Institute for Molecular Genetics, Berlin, Germany
Am J Med Genet A 143:172-8. 2007.... - A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardationMohammad Mahdi Motazacker
Max Planck Institute for Molecular Genetics, Charite Universitatsmedizin Berlin, Berlin, Germany
Am J Hum Genet 81:792-8. 2007.... - Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardationVera M Kalscheuer
Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195, Berlin, Germany
Hum Genet 121:501-9. 2007....