Gabor Matyas

Summary

Affiliation: University of Zurich
Country: Switzerland

Publications

  1. ncbi Glutathione S-transferase genotypes modify lung function decline in the general population: SAPALDIA cohort study
    Medea Imboden
    Institutes of Social and Preventive Medicine and Surgical Pathology, Molecular Epidemiology Cancer Registry, University of Zurich and University Hospital Zurich, Switzerland
    Respir Res 8:2. 2007
  2. ncbi Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome
    Gabor Matyas
    Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Schorenstrasse 16, 8603, Schwerzenbach, Zurich, Switzerland
    Hum Genet 122:23-32. 2007
  3. ncbi Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders
    Gabor Matyas
    University of Zurich, Institute of Medical Genetics, Division of Medical Molecular Genetics and Gene Diagnostics, Zurich, Switzerland
    Hum Mutat 27:760-9. 2006
  4. ncbi Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness
    Christina Zeitz
    Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland
    Am J Hum Genet 79:657-67. 2006
  5. ncbi Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes
    Istvan Magyar
    Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
    Hum Mutat 30:1355-64. 2009
  6. ncbi Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency
    Janine Meienberg
    Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
    Eur J Hum Genet 18:1315-21. 2010
  7. ncbi Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram
    Christina Zeitz
    Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland
    Invest Ophthalmol Vis Sci 46:4328-35. 2005
  8. ncbi Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene
    Gabor Matyas
    University Children s Hospital, Division of Metabolism and Molecular Pediatrics, Zurich, Switzerland
    Hum Mutat 19:443-56. 2002
  9. ncbi Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness
    Christina Zeitz
    Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
    Mol Vis 11:179-83. 2005
  10. ncbi Quantification of single nucleotide polymorphisms: a novel method that combines primer extension assay and capillary electrophoresis
    Gabor Matyas
    University Children s Hospital, Division of Metabolism and Molecular Pediatrics, Zurich, Switzerland
    Hum Mutat 19:58-68. 2002

Collaborators

Detail Information

Publications10

  1. ncbi Glutathione S-transferase genotypes modify lung function decline in the general population: SAPALDIA cohort study
    Medea Imboden
    Institutes of Social and Preventive Medicine and Surgical Pathology, Molecular Epidemiology Cancer Registry, University of Zurich and University Hospital Zurich, Switzerland
    Respir Res 8:2. 2007
    ..In the present study, we assessed whether low activity variants in GST genes are also associated with accelerated lung function decline in the general adult population...
  2. ncbi Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome
    Gabor Matyas
    Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Schorenstrasse 16, 8603, Schwerzenbach, Zurich, Switzerland
    Hum Genet 122:23-32. 2007
    ....
  3. ncbi Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders
    Gabor Matyas
    University of Zurich, Institute of Medical Genetics, Division of Medical Molecular Genetics and Gene Diagnostics, Zurich, Switzerland
    Hum Mutat 27:760-9. 2006
    ....
  4. ncbi Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness
    Christina Zeitz
    Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland
    Am J Hum Genet 79:657-67. 2006
    ..We also show that these mutations reduce the transcript levels to 30%-40% of those in controls. This suggests that the reduced amount of CABP4 is the reason for the signaling defect in these patients...
  5. ncbi Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes
    Istvan Magyar
    Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
    Hum Mutat 30:1355-64. 2009
    ..These results provide evidence for incomplete NMD in leukocytes and have particular importance for RNA-based analyses not only in FBN1 but also in other genes...
  6. ncbi Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency
    Janine Meienberg
    Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
    Eur J Hum Genet 18:1315-21. 2010
    ..Our data not only emphasize the impact/role of COL3A1 in AD patients but also extend the molecular etiology of several disorders by providing hitherto unreported evidence for true haploinsufficiency of the underlying gene...
  7. ncbi Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram
    Christina Zeitz
    Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland
    Invest Ophthalmol Vis Sci 46:4328-35. 2005
    ..Mice lacking the metabotropic glutamate receptor 6 (Grm6) have a defect in signal transmission from the photoreceptors to ON-bipolar cells. In the current study, the human orthologue (GRM6) was screened as a likely candidate for arCSNB...
  8. ncbi Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene
    Gabor Matyas
    University Children s Hospital, Division of Metabolism and Molecular Pediatrics, Zurich, Switzerland
    Hum Mutat 19:443-56. 2002
    ..A strategy for FBN1 mutation screening is discussed...
  9. ncbi Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness
    Christina Zeitz
    Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
    Mol Vis 11:179-83. 2005
    ..To describe the clinical features and genetic analysis of eight X-linked congenital stationary night blindness (XLCSNB) Dutch patients...
  10. ncbi Quantification of single nucleotide polymorphisms: a novel method that combines primer extension assay and capillary electrophoresis
    Gabor Matyas
    University Children s Hospital, Division of Metabolism and Molecular Pediatrics, Zurich, Switzerland
    Hum Mutat 19:58-68. 2002
    ..Our assay relies on a CE instrument available in many laboratories and offers a useful method for quantitative SNP genotyping as well as for a variety of expression studies...