Klaus W Kjaer

Summary

Affiliation: University of Copenhagen
Country: Denmark

Publications

  1. ncbi request reprint A 72-year-old Danish puzzle resolved--comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions
    Klaus W Kjaer
    Department of Medical Biochemistry and Genetics, Wilhelm Johannsen Centre for Functional Genome Research, University of Copenhagen, Denmark
    Am J Med Genet A 138:328-39. 2005
  2. ncbi request reprint Male-to-male transmission in Laurin-Sandrow syndrome and exclusion of RARB and RARG
    Klaus W Kjaer
    Department of Medical Biochemistry and Genetics, Wilhelm Johannsen Center for Functional Genome Research, University of Copenhagen, Panum Institute 24 4, Blegdamsvej 3, 2200 Copenhagen N, Denmark
    Am J Med Genet A 137:148-52. 2005
  3. ncbi request reprint Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair
    Klaus W Kjaer
    Wilhelm Johannsen Centre for Functional Genome Research, The Panum Institute Building 24 4, Department of Medical Genetics, University of Copenhagen, Blegdamsvej 3b, 2200 Copenhagen N, Denmark
    Am J Med Genet A 127:152-7. 2004
  4. doi request reprint Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression
    Hans Eiberg
    Department of Cellular and Molecular Medicine, Section IV Build 24 4, Panum Institute, University of Copenhagen, Blegdamsvej 3b, 2200, Copenhagen, Denmark
    Hum Genet 123:177-87. 2008
  5. doi request reprint A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family
    Kirsten M Sanggaard
    Wilhelm Johannsen Centre for Functional Genome Research, Institute of Cellular and Molecular Medicine, The Panum Institute, University of Copenhagen, Copenhagen, Denmark
    Am J Med Genet A 146:1017-25. 2008
  6. ncbi request reprint Suggestive linkage to a neighboring region of IRF6 in a cleft lip and palate multiplex family
    Linda P Jakobsen
    Department of Cellular and Molecular Medicine, Panum Institute, Wilhelm Johannsen Centre for Functional Genome Research, Copenhagen, Denmark
    Am J Med Genet A 143:2716-21. 2007
  7. ncbi request reprint Sensorineural deafness, abnormal genitalia, synostosis of metacarpals and metatarsals 4 and 5, and mental retardation: description of a second patient and exclusion of HOXD13
    Jacobo Mendioroz
    Centro de Investigación sobre Anomalías Congénitas CIAC, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain
    Am J Med Genet A 135:211-3. 2005
  8. ncbi request reprint Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis
    Jan Hellemans
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Hum Mutat 27:290. 2006
  9. ncbi request reprint Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene
    Tuula Rinne
    1Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Eur J Hum Genet 14:904-10. 2006
  10. pmc Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2
    Petra Seemann
    Institut fur Medizinische Genetik, Charite, Universitatsmedizin Berlin, Berlin, Germany
    J Clin Invest 115:2373-81. 2005

Collaborators

Detail Information

Publications13

  1. ncbi request reprint A 72-year-old Danish puzzle resolved--comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions
    Klaus W Kjaer
    Department of Medical Biochemistry and Genetics, Wilhelm Johannsen Centre for Functional Genome Research, University of Copenhagen, Denmark
    Am J Med Genet A 138:328-39. 2005
    ..Thus, our data have added evidence to the phenotype-genotype correlation previously reported, which was further extended to include lesser involvement of bones in ray 1, 2, and 5...
  2. ncbi request reprint Male-to-male transmission in Laurin-Sandrow syndrome and exclusion of RARB and RARG
    Klaus W Kjaer
    Department of Medical Biochemistry and Genetics, Wilhelm Johannsen Center for Functional Genome Research, University of Copenhagen, Panum Institute 24 4, Blegdamsvej 3, 2200 Copenhagen N, Denmark
    Am J Med Genet A 137:148-52. 2005
    ..However, it was located 83 bp from exon 2, suggesting it is a rare polymorphism which does not account for the phenotype. No other mutations were found. This suggests that another yet unknown gene is responsible for the condition...
  3. ncbi request reprint Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair
    Klaus W Kjaer
    Wilhelm Johannsen Centre for Functional Genome Research, The Panum Institute Building 24 4, Department of Medical Genetics, University of Copenhagen, Blegdamsvej 3b, 2200 Copenhagen N, Denmark
    Am J Med Genet A 127:152-7. 2004
    ..We provide an easy method for mutation detection by use of the restriction enzyme Nde1 and discuss possible pathogenetic mechanisms, arguing that loss of function cannot be excluded. This is the second article reporting ODDD mutations...
  4. doi request reprint Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression
    Hans Eiberg
    Department of Cellular and Molecular Medicine, Section IV Build 24 4, Panum Institute, University of Copenhagen, Blegdamsvej 3b, 2200, Copenhagen, Denmark
    Hum Genet 123:177-87. 2008
    ..In addition, an LOD score of Z = 4.21 between hair color and D14S72 was obtained in the large family, indicating that RABGGTA is a candidate gene for hair color...
  5. doi request reprint A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family
    Kirsten M Sanggaard
    Wilhelm Johannsen Centre for Functional Genome Research, Institute of Cellular and Molecular Medicine, The Panum Institute, University of Copenhagen, Copenhagen, Denmark
    Am J Med Genet A 146:1017-25. 2008
    ..No other system was involved indicating nonsyndromic loss. In conclusion, a novel nonsense MYO6 mutation causes post-lingual, slowly progressive autosomal dominant nonsyndromic moderate to severe hearing loss in a Danish family...
  6. ncbi request reprint Suggestive linkage to a neighboring region of IRF6 in a cleft lip and palate multiplex family
    Linda P Jakobsen
    Department of Cellular and Molecular Medicine, Panum Institute, Wilhelm Johannsen Centre for Functional Genome Research, Copenhagen, Denmark
    Am J Med Genet A 143:2716-21. 2007
    ..Our data suggest that an unidentified CL/P gene, or a non-coding IRF6 regulatory element in this linkage interval may have caused CL/P in this family...
  7. ncbi request reprint Sensorineural deafness, abnormal genitalia, synostosis of metacarpals and metatarsals 4 and 5, and mental retardation: description of a second patient and exclusion of HOXD13
    Jacobo Mendioroz
    Centro de Investigación sobre Anomalías Congénitas CIAC, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain
    Am J Med Genet A 135:211-3. 2005
    ..We tested HOXD13 but did not find any mutations in exons and intron-exon boundaries. To our knowledge this case is the second one reported with this syndrome...
  8. ncbi request reprint Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis
    Jan Hellemans
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Hum Mutat 27:290. 2006
    ..Somatic mosaicism for a LEMD3 mutation in the latter group was also not observed, and therefore we must conclude that the genetic defect in the majority of sporadic and isolated melorheostosis remains unknown...
  9. ncbi request reprint Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene
    Tuula Rinne
    1Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Eur J Hum Genet 14:904-10. 2006
    ..In addition, we have documented a gain-of-function effect on the dNp63gamma isoform caused by this mutation. We discuss the possible relevance of oral squamous cell carcinoma in one patient, who carries this p63 germline mutation...
  10. pmc Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2
    Petra Seemann
    Institut fur Medizinische Genetik, Charite, Universitatsmedizin Berlin, Berlin, Germany
    J Clin Invest 115:2373-81. 2005
    ..The presented experiments have identified some of the main determinants of GDF5 receptor-binding specificity in vivo and open new prospects for generating antagonists and superagonists of GDF5...
  11. ncbi request reprint Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome
    Irene A Aligianis
    Section of Medical and Molecular Genetics, University of Birmingham, Birmingham, B15 2TT, UK
    Nat Genet 37:221-3. 2005
    ..We hypothesize that the underlying pathogenesis of Micro syndrome is a failure of exocytic release of ocular and neurodevelopmental trophic factors...
  12. doi request reprint Brachydactyly type A2 associated with a defect in proGDF5 processing
    Frank Plöger
    Biopharm GmbH, 69115 Heidelberg, Germany
    Hum Mol Genet 17:1222-33. 2008
    ..In contrast to mature rhGDF5, (rh) proGDF5 shows a high solubility at physiological pH, a characteristic that might be useful for therapeutic applications...
  13. ncbi request reprint Limb anomalies: Developmental and evolutionary aspects
    Fiorella Gurrieri
    Institute of Medical Genetics, Catholic University of Rome, Largo F Vito 1, 00168 Rome, Italy
    Am J Med Genet 115:231-44. 2002
    ....