Thomas Rosenberg

Summary

Affiliation: National Eye Clinic for the Visually Impaired
Country: Denmark

Publications

  1. ncbi request reprint X-linked ocular albinism: prevalence and mutations--a national study
    T Rosenberg
    National Eye Clinic for the Visually Impaired, Hellerup, Denmark
    Eur J Hum Genet 6:570-7. 1998
  2. ncbi request reprint Epidemiology of hereditary ocular disorders
    Thomas Rosenberg
    Gordon Norrie Centre for Genetic Eye Diseases, National Eye Clinic for the Visually Impaired, Hellerup, Denmark
    Dev Ophthalmol 37:16-33. 2003
  3. ncbi request reprint Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations
    Thomas Rosenberg
    Gordon Norrie Centre for Genetic Eye Diseases, National Eye Clinic for the Visually Impaired, 1 Rymarksvej, DK 2900 Hellerup, Denmark
    Invest Ophthalmol Vis Sci 45:4256-62. 2004
  4. ncbi request reprint Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2)
    T Rosenberg
    National Eye Clinic for the Visually Impaired, Hellerup, Denmark
    Ophthalmic Genet 20:161-72. 1999
  5. ncbi request reprint N965S is a common ABCA4 variant in Stargardt-related retinopathies in the Danish population
    Thomas Rosenberg
    Gordon Norrie Center for Genetic Eye Diseases, National Eye Clinic for the Visually Impaired, Kennedy Center, Hellerup, Denmark
    Mol Vis 13:1962-9. 2007
  6. doi request reprint Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2
    Bernd Wissinger
    Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University Clinics Tübingen, Germany
    Invest Ophthalmol Vis Sci 49:751-7. 2008
  7. doi request reprint Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II
    Bo Dreyer
    Department of Medical Genetics, Institute of Clinical Medicine, University of Tromsø, NO 9037 Tromsø, Norway
    Hum Mutat 29:451. 2008
  8. ncbi request reprint Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8
    Lars Hansen
    Wilhelm Johannsen Centre for Functional Genome Research, Department G, Institute of Medical Biochemistry and Genetics, Panum Institute, University of Copenhagen, Copenhagen, Denmark
    Invest Ophthalmol Vis Sci 48:3937-44. 2007
  9. ncbi request reprint A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosa
    Eyal Banin
    Department of Ophthalmology, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    Am J Med Genet A 143:1150-8. 2007
  10. pmc Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing
    John Neidhardt
    Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Switzerland
    Mol Vis 14:1081-93. 2008

Collaborators

Detail Information

Publications35

  1. ncbi request reprint X-linked ocular albinism: prevalence and mutations--a national study
    T Rosenberg
    National Eye Clinic for the Visually Impaired, Hellerup, Denmark
    Eur J Hum Genet 6:570-7. 1998
    ..Clinical examination failed to identify any phenotype-genotype pattern except a milder phenotype devoid of iris translucency in the patient with the 5'splice site mutation of intron 2...
  2. ncbi request reprint Epidemiology of hereditary ocular disorders
    Thomas Rosenberg
    Gordon Norrie Centre for Genetic Eye Diseases, National Eye Clinic for the Visually Impaired, Hellerup, Denmark
    Dev Ophthalmol 37:16-33. 2003
    ....
  3. ncbi request reprint Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations
    Thomas Rosenberg
    Gordon Norrie Centre for Genetic Eye Diseases, National Eye Clinic for the Visually Impaired, 1 Rymarksvej, DK 2900 Hellerup, Denmark
    Invest Ophthalmol Vis Sci 45:4256-62. 2004
    ....
  4. ncbi request reprint Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2)
    T Rosenberg
    National Eye Clinic for the Visually Impaired, Hellerup, Denmark
    Ophthalmic Genet 20:161-72. 1999
    ..To identify possible correlations between the putative mutations and the clinical characteristics in X-linked retinitis pigmentosa, RP2...
  5. ncbi request reprint N965S is a common ABCA4 variant in Stargardt-related retinopathies in the Danish population
    Thomas Rosenberg
    Gordon Norrie Center for Genetic Eye Diseases, National Eye Clinic for the Visually Impaired, Kennedy Center, Hellerup, Denmark
    Mol Vis 13:1962-9. 2007
    ..The study was conducted to resolve the spectrum of ABCA4 mutations in a cohort of unrelated Danish residents with early-onset macular dystrophy...
  6. doi request reprint Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2
    Bernd Wissinger
    Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University Clinics Tübingen, Germany
    Invest Ophthalmol Vis Sci 49:751-7. 2008
    ..Mutations in PDE6H and in KCNV2 have been described in CDSRR. A combined clinical and genetic study was conducted in a cohort of patients with CDSRR, to substantiate these prior..
  7. doi request reprint Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II
    Bo Dreyer
    Department of Medical Genetics, Institute of Clinical Medicine, University of Tromsø, NO 9037 Tromsø, Norway
    Hum Mutat 29:451. 2008
    ..2%) families the USH phenotype could be explained by mutations in the USH3A gene. The results presented here provide a comprehensive picture of the genetic aetiology of Usher syndrome type IIA in Scandinavia as it is known to date...
  8. ncbi request reprint Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8
    Lars Hansen
    Wilhelm Johannsen Centre for Functional Genome Research, Department G, Institute of Medical Biochemistry and Genetics, Panum Institute, University of Copenhagen, Copenhagen, Denmark
    Invest Ophthalmol Vis Sci 48:3937-44. 2007
    ..To unravel the molecular genetic background in families with congenital cataract in association with microcornea (CCMC, OMIM 116150)...
  9. ncbi request reprint A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosa
    Eyal Banin
    Department of Ophthalmology, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    Am J Med Genet A 143:1150-8. 2007
    ..Our results indicate that an additional gene (or genes), linked to RPGR, modulate disease expression in severely affected carriers. These may be related to the high myopia concomitantly found in affected carriers from the Israeli family...
  10. pmc Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing
    John Neidhardt
    Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Switzerland
    Mol Vis 14:1081-93. 2008
    ..The goal of this study was to identify mutations in X-chromosomal genes associated with retinitis pigmentosa (RP) in patients from Germany, The Netherlands, Denmark, and Switzerland...
  11. ncbi request reprint A population-based epidemiological and genetic study of X-linked retinitis pigmentosa
    Holger Prokisch
    Institute of Human Genetics, Technical University of Munich, Munich, Germany
    Invest Ophthalmol Vis Sci 48:4012-8. 2007
    ..To perform a nation-wide elucidation of the prevalence and the mutation spectrum in X-linked retinitis pigmentosa (XLRP), and to make genotype-phenotype comparisons...
  12. ncbi request reprint X-linked high myopia associated with cone dysfunction
    Terri L Young
    Department of Ophthalmology, University of Minnesota Medical School, Minneapolis, USA
    Arch Ophthalmol 122:897-908. 2004
    ..We studied a second family from Minnesota with a similar X-linked phenotype, also of Danish descent. All affected males had protanopia instead of deuteranopia...
  13. ncbi request reprint Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa
    Christina F Chakarova
    Department of Molecular Genetics, Institute of Ophthalmology, University College London, 11 43 Bath Street, London EC1V 9EV, UK
    Hum Mol Genet 11:87-92. 2002
    ..The identification of mutations in a third pre-mRNA splicing factor gene further highlights a novel mechanism of photoreceptor degeneration due to defects in the splicing process...
  14. ncbi request reprint A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy
    Dawn L Thiselton
    Department of Molecular Genetics, Institute of Ophthalmology, London, United Kingdom
    Invest Ophthalmol Vis Sci 43:1715-24. 2002
    ....
  15. pmc Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia
    Susanne Kohl
    Molekulargenetisches Labor, Universitats Augenklinik, Auf der Morgenstelle 15, D 72076 Tubingen, Germany
    Am J Hum Genet 71:422-5. 2002
    ..Our results demonstrate that GNAT2 is the third gene implicated in achromatopsia...
  16. ncbi request reprint [Melanoma-associated retinopathy in a patient without a primary tumour]
    Peder Marcus Diamant
    H S Rigshospitalet, Ojenafdeling E, København
    Ugeskr Laeger 166:2812-3. 2004
  17. ncbi request reprint Risk for cancer in patients with Bardet-Biedl syndrome and their relatives
    Tina Duelund Hjortshøj
    Kennedy Institute National Eye Clinic, Glostrup Hellerup, Denmark
    Am J Med Genet A 143:1699-702. 2007
    ..Among the relatives, 30 cancers were observed, with 45.2 expected. No renal cancers were observed in the two groups. These data do not support the suggested increased risk for renal cancer in relatives of patients with BBS...
  18. ncbi request reprint TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies
    Stefanie Katzke
    Institute of Medical Genetics, Charite University Hospital, Berlin, Germany
    Hum Mutat 20:197-208. 2002
    ....
  19. ncbi request reprint Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies
    Peter N Robinson
    Institute of Medical Genetics, Department of General Pediatrics, Charite University Hospital, Berlin, Germany
    Hum Mutat 20:153-61. 2002
    ..The present article intends to provide an overview of mutations found in MFS and related disorders and to discuss potential genotype-phenotype correlations in MFS...
  20. ncbi request reprint Novel MAF mutation in a family with congenital cataract-microcornea syndrome
    Lars Hansen
    The Wilhelm Johannsen Center for Functional Genome Research, University of Copenhagen, Copenhagen N, Denmark
    Mol Vis 13:2019-22. 2007
    ..To further unravel the molecular genetic background for the association congenital cataract-microcornea (CCMC)...
  21. pmc Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients
    Tina Duelund Hjortshøj
    Kennedy Center, Medical Genetics Laboratory, Glostrup, Denmark
    Am J Med Genet A 146:517-20. 2008
  22. doi request reprint Prevalence of age-related maculopathy and age-related macular degeneration among the inuit in Greenland. The Greenland Inuit Eye Study
    Mads Varis Nis Andersen
    Department of Ophthalmology, Rigshospitalet, University Hospital of Copenhagen and Faculty of Health Sciences, University of Copenhagen, Copenhagen, Denmark
    Ophthalmology 115:700-707.e1. 2008
    ..To examine the age- and gender-specific prevalence and describe the common phenotype of early age-related maculopathy (ARM) and late-stage age-related macular degeneration (AMD) among the Inuit in Greenland...
  23. ncbi request reprint p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness
    Viktoria Szabo
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
    Hum Mutat 28:741-2. 2007
    ....
  24. ncbi request reprint The prevalence and incidence of visual impairment in people of age 20-59 years in industrialized countries: a review
    Kamilla Rothe Nissen
    National Eye Clinic for the Visually Impaired, Hellerup, Denmark
    Ophthalmic Epidemiol 10:279-91. 2003
    ..Reviews on the prevalence of blindness and low vision in persons of age 20 to 59 years are lacking. We have therefore carried out a review based on a Medline search...
  25. pmc Transgenic mice carrying the H258N mutation in the gene encoding the beta-subunit of phosphodiesterase-6 (PDE6B) provide a model for human congenital stationary night blindness
    Stephen H Tsang
    Brown Glaucoma Laboratory, Center for Neurobiology and Behavior, Columbia University, New York, New York, USA
    Hum Mutat 28:243-54. 2007
    ..Nevertheless, such animals should be of considerable value in further studies of the molecular pathology of CSNB...
  26. ncbi request reprint Oculometric characteristics of extreme hypermetropia in two faroese families
    Hans Callø Fledelius
    The University Eye Department of Rigshospitalet, Copenhagen, Denmark
    Optom Vis Sci 81:762-8. 2004
    ..To describe and analyze the oculometric features of small eyes with high hypermetropia in two Faroese families, with emphasis on refractive components...
  27. ncbi request reprint A nationwide Danish study of 1027 cases of congenital/infantile cataracts: etiological and clinical classifications
    Birgitte Haargaard
    Department of Epidemiology Research, Danish Epidemiology Science Centre, Statens Serum Institut, Copenhagen, Denmark
    Ophthalmology 111:2292-8. 2004
    ..To study the distribution of congenital/infantile cataract in the entire population of Denmark according to etiological and clinical classifications...
  28. ncbi request reprint 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...
  29. ncbi request reprint Hereditary high hypermetropia in the Faroe Islands
    Josefine Fuchs
    Department of Ophthalmology, Rigshospitalet, Copenhagen, Denmark
    Ophthalmic Genet 26:9-15. 2005
    ..To characterize the phenotype of two families with high hypermetropia from the Faroe Islands...
  30. ncbi request reprint Incidence and cumulative risk of childhood cataract in a cohort of 2.6 million Danish children
    Birgitte Haargaard
    Department of Epidemiology Research, Danish Epidemiology Science Centre, Statens Serum Institut, Copenhagen, Denmark
    Invest Ophthalmol Vis Sci 45:1316-20. 2004
    ..To determine the incidence and cumulative risk of childhood cataract in Denmark during 1980 to 2000...
  31. ncbi request reprint Risk factors for idiopathic congenital/infantile cataract
    Birgitte Haargaard
    Department of Epidemiology Research, Danish Epidemiology Science Centre, Statens Serum Institut, Artillerivej 5, DK 2300 Copenhagen, Denmark
    Invest Ophthalmol Vis Sci 46:3067-73. 2005
    ..To investigate maternal, demographic, and pre- and perinatal risk factors for idiopathic congenital/infantile (ICI) cataract...
  32. ncbi request reprint Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified
    Lars Hansen
    The Wilhelm Johannsen Centre for Functional Genome Research, Institute of Medical Biochemistry and Genetics, Panum Institute, University of Copenhagen, Copenhagen N, Denmark
    Eur J Hum Genet 13:1275-84. 2005
    ..In contrast, diabetes insipidus was present in two subjects only. Various degrees and types of hearing impairment were diagnosed in six individuals and cataract was observed in five subjects...
  33. pmc Development of a genotyping microarray for Usher syndrome
    Frans P M Cremers
    Department of Human Genetics, and Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    J Med Genet 44:153-60. 2007
    ..Thus far, eight genes have been implicated in the syndrome, together comprising 347 protein-coding exons...
  34. ncbi request reprint The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46
    Lars Hansen
    The Wilhelm Johannsen Centre for Functional Genome Research, Institute of Medical Biochemistry and Genetics, University of Copenhagen, Copenhagen, Denmark
    Mol Vis 12:1033-9. 2006
    ..We retrieved the family and performed linkage analysis to determine the disease locus and identify the mutated gene...
  35. ncbi request reprint [Bardet-Biedl syndrome. Insight into this rare inherited syndrome can lead to new knowledge of molecular mechanisms]
    Tina Duelund Hjortshøj
    John F Kennedy Instituttet Statens Ojenklinik, Glostrup
    Ugeskr Laeger 167:2394-8. 2005