Hans Eiberg

Summary

Country: Denmark

Publications

  1. pmc Polymorphisms in phase I and phase II genes and breast cancer risk and relations to persistent organic pollutant exposure: a case-control study in Inuit women
    Mandana Ghisari
    Centre for Arctic Health and Unit of Cellular and Molecular Toxicology, Department of Public Health, Aarhus University, Bartholins Alle 2, Build 1260, 8000 Aarhus C, Denmark
    Environ Health 13:19. 2014
  2. doi request reprint Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9)
    H Eiberg
    Department of Cellular and Molecular Medicine, Faculty of Health, University of Copenhagen, Copenhagen, Denmark
    Clin Genet 82:256-63. 2012
  3. pmc Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%
    Gitte J Almind
    Center for Applied Human Molecular Genetics, Kennedy Center, Glostrup, Denmark
    BMC Med Genet 13:65. 2012
  4. doi request reprint Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract
    Lars Hansen
    Wilhelm Johannsen Centre for Functional Genome Research, Institute of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark
    Invest Ophthalmol Vis Sci 50:3291-303. 2009
  5. doi request reprint Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia
    Kirsten Svenstrup
    Section of Neurogenetics, Department of Cellular and Molecular Medicine, University of Copenhagen, Denmark
    J Neurol Sci 284:90-5. 2009
  6. 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
  7. doi request reprint Human eye colour and HERC2, OCA2 and MATP
    Jonas Mengel-From
    Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health Sciences, University of Copenhagen, 11 Frederik V s Vej, DK 2100 Copenhagen, Denmark
    Forensic Sci Int Genet 4:323-8. 2010
  8. doi request reprint GJB2 (Connexin-26) mutations are not frequent among hearing impaired patients in east Greenland
    Preben Homøe
    Department of Otolaryngology, Head and Neck Surgery, Rigshospitalet, Copenhagen, Denmark
    Int J Audiol 51:433-6. 2012
  9. 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
  10. doi request reprint Variation in the gene encoding Krüppel-like factor 7 influences body fat: studies of 14 818 Danes
    Dorit P Zobel
    Steno Diabetes Center, Niels Steensens Vej 2, DK 2820 Gentofte, Copenhagen, Denmark
    Eur J Endocrinol 160:603-9. 2009

Detail Information

Publications38

  1. pmc Polymorphisms in phase I and phase II genes and breast cancer risk and relations to persistent organic pollutant exposure: a case-control study in Inuit women
    Mandana Ghisari
    Centre for Arctic Health and Unit of Cellular and Molecular Toxicology, Department of Public Health, Aarhus University, Bartholins Alle 2, Build 1260, 8000 Aarhus C, Denmark
    Environ Health 13:19. 2014
    ....
  2. doi request reprint Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9)
    H Eiberg
    Department of Cellular and Molecular Medicine, Faculty of Health, University of Copenhagen, Copenhagen, Denmark
    Clin Genet 82:256-63. 2012
    ....
  3. pmc Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%
    Gitte J Almind
    Center for Applied Human Molecular Genetics, Kennedy Center, Glostrup, Denmark
    BMC Med Genet 13:65. 2012
    ..Investigation of the OPA1 mutation spectrum in autosomal dominant optic atrophy (ADOA) in Denmark...
  4. doi request reprint Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract
    Lars Hansen
    Wilhelm Johannsen Centre for Functional Genome Research, Institute of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark
    Invest Ophthalmol Vis Sci 50:3291-303. 2009
    ..Seven families have been published previously, and the data of the remaining 21 families are presented together with an overview of the results in all families...
  5. doi request reprint Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia
    Kirsten Svenstrup
    Section of Neurogenetics, Department of Cellular and Molecular Medicine, University of Copenhagen, Denmark
    J Neurol Sci 284:90-5. 2009
    ..In HSPD1 we identified a sporadic patient homozygote for the potential modifying variation. The effect of the modifying HSPD1 variation was not supported by identification in one SPG4 family...
  6. 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)...
  7. doi request reprint Human eye colour and HERC2, OCA2 and MATP
    Jonas Mengel-From
    Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health Sciences, University of Copenhagen, 11 Frederik V s Vej, DK 2100 Copenhagen, Denmark
    Forensic Sci Int Genet 4:323-8. 2010
    ..Diplotype analysis of three sequence variations in HERC2 and one sequence variation in OCA2 showed the best discrimination between light and dark eye colours with a likelihood ratio of 29.3...
  8. doi request reprint GJB2 (Connexin-26) mutations are not frequent among hearing impaired patients in east Greenland
    Preben Homøe
    Department of Otolaryngology, Head and Neck Surgery, Rigshospitalet, Copenhagen, Denmark
    Int J Audiol 51:433-6. 2012
    ..Investigate genetic causes of HI among the Inuit populations in the Arctic with a high prevalence of hearing impairment (HI)...
  9. 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...
  10. doi request reprint Variation in the gene encoding Krüppel-like factor 7 influences body fat: studies of 14 818 Danes
    Dorit P Zobel
    Steno Diabetes Center, Niels Steensens Vej 2, DK 2820 Gentofte, Copenhagen, Denmark
    Eur J Endocrinol 160:603-9. 2009
    ....
  11. 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)...
  12. 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...
  13. doi request reprint A high frequent BRCA1 founder mutation identified in the Greenlandic population
    Theresa Larriba Harboe
    Department of Cellular and Molecular Medicine, Faculty of Health Sciences, University of Copenhagen, Blegdamsvej 3, 2200 Copenhagen N, Denmark
    Fam Cancer 8:413-9. 2009
    ....
  14. doi request reprint Determination of cis/trans phase of variations in the MC1R gene with allele-specific PCR and single base extension
    Jonas Mengel-From
    Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health Sciences, University of Copenhagen, Copenhagen, Denmark
    Electrophoresis 29:4780-7. 2008
    ..In all 62 individuals, the MC1R variants were situated in trans position. Another 18 individuals with red hair colour were either genotyped R/- or R/r, suggesting that other genes influence hair colour...
  15. 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...
  16. ncbi request reprint Mapping of hereditary trichilemmal cyst (TRICY1) to chromosome 3p24-p21.2 and exclusion of beta-CATENIN and MLH1
    Hans Eiberg
    Department of Medical Biochemistry and Genetics, University of Copenhagen, Copenhagen, Denmark
    Am J Med Genet A 133:44-7. 2005
    ..69; theta(M = F) = 0.08) spanning 10.3 Mb on chromosome 3p24-p21.2. We sequenced two candidate genes previously reported in inherited hair defects, CTNNB1 and MLH1 but failed to detect mutations in exons and intron-exon bounders...
  17. ncbi request reprint A novel nonsense mutation in PAX9 is associated with marked variability in number of missing teeth
    Lars Hansen
    Department of Cellular and Molecular Medicine and The Wilhelm Johannsen Center for Functional Genome Research, The Panum Insitute, University of Copenhagen, Blegdamsvej 3b, DK 2200 Copenhagen N, Denmark
    Eur J Oral Sci 115:330-3. 2007
    ..The family showed a marked phenotypic variability in the number of missing teeth, ranging from 2 to 15 missing teeth. The highest frequency of missing teeth was found for second molars followed by second premolars...
  18. ncbi request reprint Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses
    Kirsten Marie Sanggaard
    Wilhelm Johannsen Centre for Functional Genome Research, Section of Genetics, Institute of Cellular and Molecular Medicine, The Panum Institute, University of Copenhagen, Copenhagen, Denmark
    Eur J Hum Genet 15:1121-31. 2007
    ..Unidentified mutations impairing mRNA expression or further genetic heterogeneity may explain the lack of mutation finding in one family despite LOD score indications of EYA1 involvement...
  19. 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...
  20. 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...
  21. doi request reprint Huntington's disease-like and ataxia syndromes: identification of a family with a de novo SCA17/TBP mutation
    Sara Bech
    Department of Cellular and Molecular Medicine, Section of Neurogenetics, The Panum Institute, University of Copenhagen, Denmark
    Parkinsonism Relat Disord 16:12-5. 2010
    ..We conclude that, however rare, SCA17 must be considered as a cause of Huntington's disease-like phenotypes and ataxia syndromes, also in isolated cases...
  22. doi request reprint Genetic and phenotypic correlations between surrogate measures of insulin release obtained from OGTT data
    Anette P Gjesing
    The Novo Nordisk Foundation Center for Basic Metabolic Research, Section of Metabolic Genetics, Faculty of Health and Medical Sciences, University of Copenhagen, Universitetsparken 1 3, DK 2100, Copenhagen, Denmark
    Diabetologia 58:1006-12. 2015
    ..We examined the extent to which surrogate measures of insulin release have shared genetic causes...
  23. pmc Associations of the Inflammatory Marker YKL-40 with Measures of Obesity and Dyslipidaemia in Individuals at High Risk of Type 2 Diabetes
    Stine B Thomsen
    Section of Metabolic Genetics, The Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
    PLoS ONE 10:e0133672. 2015
    ..Circulating levels of the inflammatory marker YKL-40 are elevated in cardiovascular disease and obesity-related type 2 diabetes (T2D), and serum YKL-40 levels are related to elements of dyslipidaemia...
  24. 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...
  25. 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...
  26. ncbi request reprint Non-disjunction of chromosome 13
    Merete Bugge
    Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Denmark
    Hum Mol Genet 16:2004-10. 2007
    ..This study supports the evidence for subtle chromosome-specific influences on the mechanisms that determine non-disjunction of human chromosomes, consistent with the diversity of findings for other trisomies...
  27. pmc The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract
    Lars Hansen
    1 Wilhelm Johannsen Centre for Functional Genome Research, Panum Institute, University of Copenhagen, Copenhagen, Denmark 2 Institute of Cellular and Molecular Medicine, Panum Institute, University of Copenhagen, Copenhagen, Denmark
    Eur J Hum Genet 22:1290-7. 2014
    ..The p.Arg805Trp alteration in the mammalian UNC45B gene suggests that developmental cataract may be caused by a defect in non-muscle myosin assembly during maturation of the lens fiber cells. ..
  28. pmc Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia
    Sheroy Minocherhomji
    Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, Faculty of Health Sciences, University of Copenhagen, Copenhagen N DK 2200, Denmark
    Hum Mol Genet 23:6163-76. 2014
    ....
  29. doi request reprint High heritability and genetic correlation of intravenous glucose- and tolbutamide-induced insulin secretion among non-diabetic family members of type 2 diabetic patients
    Anette P Gjesing
    The Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Universitetsparken 1 3, 2100, Copenhagen Ø, Denmark
    Diabetologia 57:1173-81. 2014
    ..In addition, single nucleotide polymorphisms (SNPs) having an exclusive effect on either glucose- or tolbutamide-stimulated insulin release were identified...
  30. pmc Novel de novo BRCA2 mutation in a patient with a family history of breast cancer
    Thomas V O Hansen
    Department of Clinical Biochemistry, Rigshospitalet, Copenhagen, Denmark
    BMC Med Genet 9:58. 2008
    ..We describe the parental origin and functional characterization of a novel de novo BRCA2 splice site mutation found in a patient exhibiting a ductal carcinoma at the age of 40...
  31. ncbi request reprint Cytoplasmic expression of E-cadherin and beta-Catenin correlated with LOH and hypermethylation of the APC gene in oral squamous cell carcinomas
    Shan Gao
    School of Dentistry, University of Copenhagen, Copenhagen, Denmark
    J Oral Pathol Med 34:116-9. 2005
    ..The aim of the present study is to investigate the possible role of APC/beta-Catenin pathway in oral squamous cell carcinomas...
  32. 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...
  33. ncbi request reprint Mutation analysis of the Sonic hedgehog promoter and putative enhancer elements in Parkinson's disease patients
    Mads Bak
    Wilhelm Johannsen Centre for Functional Genome Research, Department of Medical Genetics G, Institute of Medical Biochemistry and Genetics, Panum Institute, University of Copenhagen, Blegdamsvej 3, Bldg 24 4, DK 2200N Copenhagen, Denmark
    Brain Res Mol Brain Res 126:207-11. 2004
    ..None of the identified sequence variations were present at a significantly different frequency in PD patients compared to healthy individuals, suggesting that they are not involved in the pathogenesis of PD...
  34. doi request reprint The analysis of a large Danish family supports the presence of a susceptibility locus for adenoma and colorectal cancer on chromosome 11q24
    Laura Aviaja Rudkjøbing
    Department of Cellular and Molecular Medicine, Faculty of Health, Panum Institute 24 4, University of Copenhagen, Blegdamsvej 3b, 2200, Copenhagen N, Denmark
    Fam Cancer 14:393-400. 2015
    ..6. Two other studies have identified 11q24 as a candidate area for colorectal cancer susceptibility and this area is supported by our results...
  35. ncbi request reprint Mosaicism of the CAG repeat sequence in the Huntington disease gene in a pair of monozygotic twins
    Anne Nørremølle
    Institute of Medical Biochemistry and Genetics, Section of Neurogenetics, University of Copenhagen, DK 2200 Copenhagen, Denmark
    Am J Med Genet A 130:154-9. 2004
    ....
  36. ncbi request reprint Variation in CAPN10 in relation to type 2 diabetes, obesity and quantitative metabolic traits: studies in 6018 whites
    Dorit P Jensen
    Steno Diabetes Center, Niels Steensens Vej 2, DK 2820 Gentofte, Copenhagen, Denmark
    Mol Genet Metab 89:360-7. 2006
    ....
  37. doi request reprint A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia
    Mette Gilling
    Department of Medical Genetics, Wilhelm Johannsen Centre for Functional Genome Research, Institute of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen N, Denmark
    Eur J Hum Genet 16:312-9. 2008
    ..Identification of multiple genetic changes in this patient with childhood autism agrees with the most frequently suggested genetic model of ASDs as complex, polygenic disorders...
  38. ncbi request reprint Frequency of the HFE C282Y and H63D mutations in Danish patients with clinical haemochromatosis initially diagnosed by phenotypic methods
    Nils Milman
    Department of Medicine B, Rigshospitalet, University of Copenhagen, Denmark
    Eur J Haematol 71:403-7. 2003
    ..To assess the frequency of the C282Y and H63D mutations on the HFE gene in Danish patients with clinical hereditary haemochromatosis initially diagnosed by phenotypic methods...