Andreas Tzschach

Summary

Country: Germany

Publications

  1. doi request reprint Interstitial 9q34.11-q34.13 deletion in a patient with severe intellectual disability, hydrocephalus, and cleft lip/palate
    Andreas Tzschach
    Institute of Human Genetics, University of Tuebingen, Tuebingen, Germany
    Am J Med Genet A 158:1709-12. 2012
  2. doi request reprint Christianson syndrome in a patient with an interstitial Xq26.3 deletion
    Andreas Tzschach
    Department Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany
    Am J Med Genet A 155:2771-4. 2011
  3. doi request reprint Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement
    Andreas Tzschach
    Max Planck Institute for Molecular Genetics, Human Molecular Genetics, Berlin, Germany
    Am J Med Genet A 152:1008-12. 2010
  4. ncbi request reprint Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH
    Andreas Tzschach
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    Am J Med Genet A 143:333-7. 2007
  5. doi request reprint A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family
    Masoud Garshasbi
    Department Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany
    Am J Med Genet A 155:1976-80. 2011
  6. pmc Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11
    Andreas Tzschach
    Department Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany
    Eur J Hum Genet 18:291-5. 2010
  7. doi request reprint 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
  8. doi request reprint Xq22.3-q23 deletion including ACSL4 in a patient with intellectual disability
    Anastasia Gazou
    Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany
    Am J Med Genet A 161:860-4. 2013
  9. pmc Mutations in NSUN2 cause autosomal-recessive intellectual disability
    Lia Abbasi-Moheb
    Max Planck Institute for Molecular Genetics, Ihnestraße 73, Berlin, Germany
    Am J Hum Genet 90:847-55. 2012
  10. pmc Mapping translocation breakpoints by next-generation sequencing
    Wei Chen
    Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany
    Genome Res 18:1143-9. 2008

Collaborators

Detail Information

Publications29

  1. doi request reprint Interstitial 9q34.11-q34.13 deletion in a patient with severe intellectual disability, hydrocephalus, and cleft lip/palate
    Andreas 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...
  2. doi request reprint Christianson syndrome in a patient with an interstitial Xq26.3 deletion
    Andreas 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...
  3. doi request reprint Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement
    Andreas 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...
  4. ncbi request reprint Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH
    Andreas 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...
  5. doi request reprint A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family
    Masoud 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...
  6. pmc Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11
    Andreas 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...
  7. doi request reprint 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
    ....
  8. doi request reprint Xq22.3-q23 deletion including ACSL4 in a patient with intellectual disability
    Anastasia Gazou
    Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany
    Am J Med Genet A 161:860-4. 2013
    ..In summary, the patient reported here broadens our knowledge of the phenotypic consequences of deletions of chromosome region Xq22.3-q23 and provides further proof for ACSL4 as an X-linked intellectual disability gene...
  9. pmc Mutations in NSUN2 cause autosomal-recessive intellectual disability
    Lia 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...
  10. pmc Mapping translocation breakpoints by next-generation sequencing
    Wei 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...
  11. ncbi request reprint Characterization of interstitial Xp duplications in two families by tiling path array CGH
    Andreas 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...
  12. pmc ST3GAL3 mutations impair the development of higher cognitive functions
    Hao 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...
  13. doi request reprint A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family
    Lucia Püttmann
    Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany Department of Biology, Chemistry and Pharmacy, Freie Universitat Berlin, Berlin, Germany
    Am J Med Genet A 161:1915-22. 2013
    ..67 kcal/mol furthermore suggests a severe destabilization of the protein. In line with these in silico observations, no SSADH enzyme activity could be detected in patient lymphoblasts. © 2013 Wiley Periodicals, Inc. ..
  14. doi request reprint Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots
    Andreas 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...
  15. pmc Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing
    Wei 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...
  16. doi request reprint Interstitial deletion 2p11.2-p12: report of a patient with mental retardation and review of the literature
    Andreas 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...
  17. doi request reprint Chromosome deletions in 13q33-34: report of four patients and review of the literature
    Joanna 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...
  18. doi request reprint Interstitial 3p25.3-p26.1 deletion in a patient with intellectual disability
    Angelika 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...
  19. doi request reprint Cohen syndrome diagnosis using whole genome arrays
    Núria 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...
  20. doi request reprint 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...
  21. pmc A defect in the TUSC3 gene is associated with autosomal recessive mental retardation
    Masoud 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...
  22. pmc A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation
    Vera 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...
  23. pmc Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1
    Lars 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...
  24. doi request reprint 12q24.33 deletion: report of a patient with intellectual disability and review of the literature
    Martin Kehrer
    Institute of Human Genetics, University of Tuebingen, and University Children s Hospital, Tuebingen, Germany
    Am J Med Genet A 161:1409-13. 2013
    ..Thus, the patient reported here broadens our knowledge of the phenotypic consequences of deletions in 12q24.33 and facilitates genotype-phenotype correlations for chromosome aberrations of this region...
  25. doi request reprint Czech dysplasia: report of a large family and further delineation of the phenotype
    Andreas 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...
  26. pmc Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene
    Joanna 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...
  27. ncbi request reprint 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 delay
    Fikret Erdogan
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    Am J Med Genet A 143:172-8. 2007
    ....
  28. pmc A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation
    Mohammad Mahdi Motazacker
    Max Planck Institute for Molecular Genetics, Charite Universitatsmedizin Berlin, Berlin, Germany
    Am J Hum Genet 81:792-8. 2007
    ....
  29. ncbi request reprint Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation
    Vera M Kalscheuer
    Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195, Berlin, Germany
    Hum Genet 121:501-9. 2007
    ....