S Kohl

Summary

Country: Germany

Publications

  1. ncbi CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
    Susanne Kohl
    Molekulargenetisches Labor, Universitäts Augenklinik Tübingen, Abt Pathophysiologie des Sehens und Neuroophthalmologie, Germany
    Eur J Hum Genet 13:302-8. 2005
  2. pmc A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia
    Susanne Kohl
    Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, 72076 Tuebingen, Germany
    Am J Hum Genet 91:527-32. 2012
  3. doi [Genetic diagnostic testing in inherited retinal dystrophies]
    S Kohl
    Department für Augenheilkunde, Forschungsinstitut für Augenheilkunde, Tubingen, Germany
    Klin Monbl Augenheilkd 230:243-6. 2013
  4. ncbi Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21
    S Kohl
    Molekulargenetisches Labor, Universitats Augenklinik, Auf der Morgenstelle 15, D 72076 Tubingen, Germany
    Hum Mol Genet 9:2107-16. 2000
  5. pmc CNGA3 mutations in hereditary cone photoreceptor disorders
    B Wissinger
    Molekulargenetisches Labor, Abt Pathophysiologie des Sehens und Neuroophthalmologie, Tubingen, Germany
    Am J Hum Genet 69:722-37. 2001
  6. ncbi Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11
    B Wissinger
    Molekulargenetisches Labor, Forschungsstelle für Experimentelle Ophthalmologie, Universitäts Augenklinik Tübingen, Abteilung II, Auf der Morgenstelle 15, Tubingen, D 72076, Germany
    Genomics 51:325-31. 1998
  7. ncbi Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel
    S Kohl
    Molekulargenetisches Labor, Abteilung für Pathophysiologie des Sehens und Neuroophthalmologie, Universitäts Augenklinik Tübingen, Germany
    Nat Genet 19:257-9. 1998
  8. doi [Genetic causes of hereditary cone and cone-rod dystrophies]
    S Kohl
    Molekulargenetisches Labor, Forschungsinstitut für Augenheilkunde, Department für Augenheilkunde, Universitatsklinikum Tubingen, Röntgenweg 11, 72076 Tubingen, Deutschland
    Ophthalmologe 106:109-15. 2009

Detail Information

Publications8

  1. ncbi CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
    Susanne Kohl
    Molekulargenetisches Labor, Universitäts Augenklinik Tübingen, Abt Pathophysiologie des Sehens und Neuroophthalmologie, Germany
    Eur J Hum Genet 13:302-8. 2005
    ..This indicates that the CNGB3/ACHM3 locus on chromosome 8q21 is the major locus for achromatopsia in patients of European origin or descent...
  2. pmc A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia
    Susanne Kohl
    Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, 72076 Tuebingen, Germany
    Am J Hum Genet 91:527-32. 2012
    ..These findings add PDE6H to the set of genes involved in autosomal-recessive cone disorders and demonstrate the importance of the inhibitory γ subunit in cone phototransduction...
  3. doi [Genetic diagnostic testing in inherited retinal dystrophies]
    S Kohl
    Department für Augenheilkunde, Forschungsinstitut für Augenheilkunde, Tubingen, Germany
    Klin Monbl Augenheilkd 230:243-6. 2013
    ....
  4. ncbi Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21
    S Kohl
    Molekulargenetisches Labor, Universitats Augenklinik, Auf der Morgenstelle 15, D 72076 Tubingen, Germany
    Hum Mol Genet 9:2107-16. 2000
    ..The 1148delC mutation was identified recurrently in several families, and in total was present on 11 of 22 disease chromosomes segregating in our families...
  5. pmc CNGA3 mutations in hereditary cone photoreceptor disorders
    B Wissinger
    Molekulargenetisches Labor, Abt Pathophysiologie des Sehens und Neuroophthalmologie, Tubingen, Germany
    Am J Hum Genet 69:722-37. 2001
    ....
  6. ncbi Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11
    B Wissinger
    Molekulargenetisches Labor, Forschungsstelle für Experimentelle Ophthalmologie, Universitäts Augenklinik Tübingen, Abteilung II, Auf der Morgenstelle 15, Tubingen, D 72076, Germany
    Genomics 51:325-31. 1998
    ..These data indicate that the CNGA3 gene maps within the critical interval of the ACHM2 locus for rod monochromacy and thus is a candidate gene for this disease...
  7. ncbi Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel
    S Kohl
    Molekulargenetisches Labor, Abteilung für Pathophysiologie des Sehens und Neuroophthalmologie, Universitäts Augenklinik Tübingen, Germany
    Nat Genet 19:257-9. 1998
    ....
  8. doi [Genetic causes of hereditary cone and cone-rod dystrophies]
    S Kohl
    Molekulargenetisches Labor, Forschungsinstitut für Augenheilkunde, Department für Augenheilkunde, Universitatsklinikum Tubingen, Röntgenweg 11, 72076 Tubingen, Deutschland
    Ophthalmologe 106:109-15. 2009
    ..This article aims to review the current knowledge of genes and mutations involved in these rare disorders that primarily affect the cone photoreceptor system...