H Eiberg

Summary

Affiliation: University of Copenhagen
Country: Denmark

Publications

  1. doi request reprint Hereditary phenotypes in nocturnal enuresis
    Henriette L Schaumburg
    Clinical Institute, Department of Paediatrics, Aarhus University Hospital, Skejby, Denmark
    BJU Int 102:816-21. 2008
  2. 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
  3. pmc Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene
    H Eiberg
    Department of Medical Biochemistry and Genetics, Panum Institute, University of Copenhagen, DK 2200 Copenhagen N, Denmark
    J Med Genet 43:435-40. 2006
  4. ncbi request reprint Cholestasis Familiaris Groenlandica/Byler-like disease in Greenland--a population study
    H Eiberg
    Institute of Medical Biochemistry and Genetics, Panum Inst, University of Copenhagen, Denmark
    Int J Circumpolar Health 63:189-91. 2004
  5. 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
  6. ncbi request reprint Hepatocyte nuclear factor-6: associations between genetic variability and type II diabetes and between genetic variability and estimates of insulin secretion
    A M Møller
    Steno Diabetes Center, Gentofte, Copenhagen, Denmark
    Diabetologia 42:1011-6. 1999
  7. pmc Autosomal dominant pure spastic paraplegia: a clinical, paraclinical, and genetic study
    J E Nielsen
    Institute of Medical Biochemistry and Genetics, Laboratory of Medical Genetics, University of Copenhagen, Denmark
    J Neurol Neurosurg Psychiatry 64:61-6. 1998
  8. 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
  9. ncbi request reprint Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis
    H Eiberg
    University Institute of Medical Biochemistry and Genetics, Department of Medical Genetics B24 4, Copenhagen, Denmark
    Hum Mol Genet 3:977-80. 1994
  10. ncbi request reprint NeuroD/BETA2 gene variability and diabetes: no associations to late-onset type 2 diabetes but an A45 allele may represent a susceptibility marker for type 1 diabetes among Danes. Danish Study Group of Diabetes in Childhood, and the Danish IDDM Epidemiolog
    L Hansen
    Steno Diabetes Center, Panum Institute, University of Copenhagen, Denmark
    Diabetes 49:876-8. 2000

Detail Information

Publications73

  1. doi request reprint Hereditary phenotypes in nocturnal enuresis
    Henriette L Schaumburg
    Clinical Institute, Department of Paediatrics, Aarhus University Hospital, Skejby, Denmark
    BJU Int 102:816-21. 2008
    ..To identify phenotypic characteristics in three large families with autosomal dominant nocturnal enuresis (NE), and to elucidate whether such characteristics persist after cessation of symptoms...
  2. 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...
  3. pmc Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene
    H Eiberg
    Department of Medical Biochemistry and Genetics, Panum Institute, University of Copenhagen, DK 2200 Copenhagen N, Denmark
    J Med Genet 43:435-40. 2006
    ..This is the first example of autosomal dominant optic atrophy and hearing loss associated with a WFS1 mutation, supporting the notion that mutations in WFS1 as well as in OPA1 may lead to ADOA combined with impaired hearing...
  4. ncbi request reprint Cholestasis Familiaris Groenlandica/Byler-like disease in Greenland--a population study
    H Eiberg
    Institute of Medical Biochemistry and Genetics, Panum Inst, University of Copenhagen, Denmark
    Int J Circumpolar Health 63:189-91. 2004
    ..A missense mutation, 1660G>A (asp554asn) in the gene ATP8B1 causes the disease (Klomp et al. 2000)...
  5. 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...
  6. ncbi request reprint Hepatocyte nuclear factor-6: associations between genetic variability and type II diabetes and between genetic variability and estimates of insulin secretion
    A M Møller
    Steno Diabetes Center, Gentofte, Copenhagen, Denmark
    Diabetologia 42:1011-6. 1999
    ..We therefore tested the hypothesis that variability in the HNF-6 gene is associated with subsets of Type II (non-insulin-dependent) diabetes mellitus and estimates of insulin secretion in glucose tolerant subjects...
  7. pmc Autosomal dominant pure spastic paraplegia: a clinical, paraclinical, and genetic study
    J E Nielsen
    Institute of Medical Biochemistry and Genetics, Laboratory of Medical Genetics, University of Copenhagen, Denmark
    J Neurol Neurosurg Psychiatry 64:61-6. 1998
    ..In this study the clinical, genetic, neurophysiological, and MRI characteristics of ADPSP were investigated...
  8. 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...
  9. ncbi request reprint Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis
    H Eiberg
    University Institute of Medical Biochemistry and Genetics, Department of Medical Genetics B24 4, Copenhagen, Denmark
    Hum Mol Genet 3:977-80. 1994
    ..34 at theta M = F = 0.075). Using two additional chromosome 3 markers we were able to map the OPA1 gene in the region between D3S1314 and D3S1265 (3q28-qter)...
  10. ncbi request reprint NeuroD/BETA2 gene variability and diabetes: no associations to late-onset type 2 diabetes but an A45 allele may represent a susceptibility marker for type 1 diabetes among Danes. Danish Study Group of Diabetes in Childhood, and the Danish IDDM Epidemiolog
    L Hansen
    Steno Diabetes Center, Panum Institute, University of Copenhagen, Denmark
    Diabetes 49:876-8. 2000
    ..However, in the type 1 diabetic Danish population, the Ala45Thr variant of NeuroD/BETA2 may represent a susceptibility marker independent of IDDM7 on chromosome 2q32...
  11. ncbi request reprint Assignment of dominant inherited nocturnal enuresis (ENUR1) to chromosome 13q
    H Eiberg
    University Institute of Medical Biochemistry and Genetics, Department of Medical Genetics, Danish Centre for Genome Research, Copenhagen, Denmark
    Nat Genet 10:354-6. 1995
    ..55; theta M = F = 0.07) and D13S263 (Z = 2.67; theta M = F = 0.08). Multipoint analysis indicates that these markers flank the disease locus at chromosome 13q13-q14.3...
  12. 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...
  13. doi request reprint Fasting and oral glucose-stimulated levels of glucose-dependent insulinotropic polypeptide (GIP) and glucagon-like peptide-1 (GLP-1) are highly familial traits
    A P Gjesing
    Novo Nordisk Foundation Center for Basic Metabolic Research, Section of Metabolic Genetics, University of Copenhagen, Universitetsparken 1, DK 2100 Copenhagen, Denmark
    Diabetologia 55:1338-45. 2012
    ....
  14. pmc A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2
    K W Kjaer
    Wilhelm Johannsen Centre for Functional Genome Research, Department of Medical Biochemistry and Genetics, University of Copenhagen, Denmark
    J Med Genet 43:225-31. 2006
    ..BDA2 was first described by Mohr and Wriedt in a large Danish/Norwegian kindred and mutations in BMPR1B were recently demonstrated in two affected families...
  15. ncbi request reprint Refinement of the dominant optic atrophy locus (OPA1) to a 1.4-cM interval on chromosome 3q28-3q29, within a 3-Mb YAC contig
    A Jonasdottir
    University Institute of Medical Biochemistry and Genetics, Department of Medical Genetics, Copenhagen, Denmark
    Hum Genet 99:115-20. 1997
    ..4-cM interval on chromosome 3q28-3q29, between markers D3S3669 and D3S3562. This localizes the gene on a 3-Mb YAC contig covering the disease locus. We have also located a possible candidate gene HRY to this contig...
  16. ncbi request reprint Assignment of genes coding for brown eye colour (BEY2) and brown hair colour (HCL3) on chromosome 15q
    H Eiberg
    University Institute of Medical Biochemistry and Genetics, Department of Medical Genetics, Danish Centre for Genome Research, Copenhagen, Denmark
    Eur J Hum Genet 4:237-41. 1996
    ..93; theta M = F = 0.10). The gene (DN10 or P) homologous to the pink-eye-dilution gene (p) in mice could be a candidate gene for BEY2 or for HCL3...
  17. doi request reprint RUNX2 analysis of Danish cleidocranial dysplasia families
    L Hansen
    Department of Cellular and Molecular Medicine, Panum Institute, University of Copenhagen, Blegdamsvej 3, Copenhagen, Denmark
    Clin Genet 79:254-63. 2011
    ..Identification of large chromosome aberrations in or near the RUNX2 locus in 3 of the 19 cases suggests copy number analyses to be included in future RUNX2 mutation analyses...
  18. ncbi request reprint Cloning of a human UDP-N-acetyl-alpha-D-Galactosamine:polypeptide N-acetylgalactosaminyltransferase that complements other GalNAc-transferases in complete O-glycosylation of the MUC1 tandem repeat
    E P Bennett
    Faculty of Health Sciences, School of Dentistry, Copenhagen, Denmark
    J Biol Chem 273:30472-81. 1998
    ....
  19. ncbi request reprint Total genome scan analysis in a single extended family for primary nocturnal enuresis: evidence for a new locus (ENUR3) for primary nocturnal enuresis on chromosome 22q11
    H Eiberg
    University Institute of Medical Biochemistry and Genetics, Copenhagen, Denmark
    Eur Urol 33:34-6. 1998
    ..In this study we focussed on a single large family to maximize the possibility of recognizing a single locus. This family alone could raise a lod score above 3, i.e. sufficient by tradition for assignment of a locus...
  20. pmc Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome)
    K W Kjaer
    Wilhelm Johannsen Centre for Functional Genome Research, Institute of Medical Biochemistry and Genetics, University of Copenhagen, Copenhagen, Denmark
    J Med Genet 42:292-8. 2005
    ..EEM syndrome is the rare association of ectodermal dysplasia, ectrodactyly, and macular dystrophy...
  21. ncbi request reprint Dyslexia and chromosome 15 heteromorphism: negative lod score in a Danish material
    M L Bisgaard
    University Institute of Medical Genetics, Copenhagen, Denmark
    Clin Genet 32:118-9. 1987
    ..10 a negative score of -3.42; i.e., in our material we did not find any confirmation of the indication of linkage between dyslexia and a chromosome 15 polymorphism found in part of their material by Smith et al. (1983, 1986)...
  22. 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...
  23. 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
    ....
  24. ncbi request reprint Linkage between serum cholinesterase 2 (CHE2) and gamma-crystallin gene cluster (CRYG): assignment to chromosome 2
    H Eiberg
    University Institute of Medical Genetics, Copenhagen, Denmark
    Clin Genet 35:313-21. 1989
    ..21 at theta = 0.00 in females). The scores were from a single family with 15 children. CHE2 may, accordingly, be assigned to the location of CRYG: chromosome 2, bands q33-q35...
  25. ncbi request reprint Major locus for red hair color linked to MNS blood groups on chromosome 4
    H Eiberg
    University Institute of Medical Genetics, Copenhagen, Denmark
    Clin Genet 32:125-8. 1987
    ..50 at theta = 0.05 in males and theta = 0.24 in females for the MNS blood group system; this assigns a major locus for red hair to chromosome 4...
  26. ncbi request reprint Linkage of Cholestasis Familiaris Groenlandica/Byler-like disease to chromosome 18
    H Eiberg
    University Institute of Medical Biochemistry and Genetics, Copenhagen, Denmark
    Int J Circumpolar Health 59:57-62. 2000
    ..25 in the area of the DNA markers D18S851 and D18S858. Different haplotypes follow the disease gene among Inuits in West Greenland and a possibility of locus heterogeneity of CFG between East and West Greenland exist...
  27. 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...
  28. 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...
  29. 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...
  30. ncbi request reprint Assignment of human plasma methylumbelliferyl-tetra-N-acetylchitotetraoside hydrolase or chitinase to chromosome 1q by a linkage study
    H Eiberg
    Panum Institute, Center for Human Genetics, Copenhagen, Denmark
    Hum Genet 101:205-7. 1997
    ..We have mapped this locus by linkage analysis to the marker D1S306 (z = 4.00 at theta M = F = 0.0) on chromosome 1q between the flanking markers D1S191 and D1S245 in the area of 1q31-1qter...
  31. ncbi request reprint Linkage studies of cholestasis familiaris groenlandica/Byler-like disease with polymorphic protein and blood group markers
    H Eiberg
    University Institute of Medical Genetics, University Hospital, Copenhagen, Denmark
    Hum Hered 43:250-6. 1993
    ..The following markers were nonpolymorphic in this material: ADA, AK1, ALAD, APOA4, APOH, BF, C3, BCHE, CHE2, CO, ESD, FUCA2, F13A1, F13B, KEL, LE, FUT1, LU, PEPD, PGD, PGP, PLG, FUT2, SOD1 and TF...
  32. doi request reprint Polymorphic drug metabolizing CYP-enzymes--a pathogenic factor in oral lichen planus?
    C Kragelund
    Section of Oral Medicine, Clinical Oral Physiology, Oral Pathology and Anatomy, Department of Odontology, Faculty of Health Sciences, University of Copenhagen, Copenhagen, Denmark
    J Oral Pathol Med 38:63-71. 2009
    ..Oral lichen planus (OLP) is a chronic mucosal disease with a characteristic clinical phenotype. Environmental exposures, e.g. drugs have been associated with the pathogenesis...
  33. 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...
  34. 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...
  35. ncbi request reprint [From research to prevention in Greenland. Greenland Medical Society]
    Inge Merete Nielsen
    IMBG 24, 4, Panum Instituttet, DK 2200 København N
    Ugeskr Laeger 169:1105. 2007
  36. 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
    ....
  37. 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...
  38. 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)...
  39. 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...
  40. 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...
  41. 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...
  42. ncbi request reprint Mutational analysis of the human FATE gene in 144 infertile men
    Christian Olesen
    Laboratory of Reproductive Biology, Rigshospitalet, DK 2100, Copenhagen, Denmark
    Hum Genet 113:195-201. 2003
    ..Hence, FATE may not play an important role in the disease-state of infertile men attending fertility clinics. However, FATE mutations cannot be excluded as being a contributing factor in some cases of male infertility...
  43. 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)...
  44. ncbi request reprint Dombrock blood group (DO): assignment to chromosome 12p
    H Eiberg
    Institute of Medical Biochemistry and Genetics, Department of Genetics, Copenhagen N, Denmark
    Hum Genet 98:518-21. 1996
    ..66; at theta M = 0.001, theta F = 0.031) and D12S364 (z = 8.53; at theta M = 0.068, theta F = 0.031). DO is assigned to the region 12p13.2-12p12.1 by physically localised markers...
  45. ncbi request reprint Novel MODY3 mutations in the hepatocyte nuclear factor-1alpha gene: evidence for a hyperexcitability of pancreatic beta-cells to intravenous secretagogues in a glucose-tolerant carrier of a P447L mutation
    T Hansen
    Steno Diabetes Center and Hagendorn Research Institute, Copenhagen, Denmark
    Diabetes 46:726-30. 1997
    ....
  46. ncbi request reprint Linkage study of a large Danish 4-generation family with urge incontinence and nocturnal enuresis
    H Eiberg
    Institute of Medical Biochemistry and Genetics, University of Copenhagen, Copenhagen, Denmark
    J Urol 166:2401-3. 2001
    ..However, involvement of chromosome 12q24.3 cannot be excluded for linkage. The dopamine receptors DRD5 and D1B are mapped to chromosome 4p16. These genes are candidate genes for nocturnal enuresis and urge incontinence...
  47. ncbi request reprint A novel mutation in the epsilon-sarcoglycan gene causing myoclonus-dystonia syndrome
    L E Hjermind
    Department of Medical Genetics, Panum Institute, University of Copenhagen, Denmark
    Neurology 60:1536-9. 2003
    ..Sequence analyses revealed a previously unreported deletion (974delC or R325X) in exon 7 in the epsilon-sarcoglycan gene in members of both families. The two families were found to be related...
  48. 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...
  49. doi request reprint Genetic studies in congenital anterior midline cervical cleft
    L P Jakobsen
    Department of Plastic and Reconstructive Surgery and Burns Unit, University Hospital of Copenhagen, Rigshospitalet, and Department of Cellular and Molecular Medicine, Panum Institute, University of Copenhagen, Copenhagen, Denmark
    Am J Med Genet A 158:2021-6. 2012
    ..Both aberrations were inherited from unaffected parents. These results most likely imply that the identified mutations are not disease-causing, although they may be contributing factors if CAMCC has a polygenic inheritance...
  50. ncbi request reprint Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation
    J E Nielsen
    Department of Medical Genetics, Institute of Medical Biochemistry and Genetics, University of Copenhagen, Copenhagen, Denmark
    Eur J Neurol 11:817-24. 2004
    ..We conclude that this kindred demonstrates a considerable overlap between cerebellar ataxia and spastic paraplegia, emphasizing the marked clinical heterogeneity of HSP associated with spastin mutations...
  51. 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...
  52. 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
    ....
  53. 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...
  54. ncbi request reprint Linkage between alpha 1B-glycoprotein (A1BG) and Lutheran (LU) red blood group system: assignment to chromosome 19: new genetic variants of A1BG
    H Eiberg
    University Institute of Medical Genetics, Copenhagen, Denmark
    Clin Genet 36:415-8. 1989
    ..06 at theta = 0.05 in males, and z = 1.42 at theta = 0.10 in females, which assigns A1BG to chromosome 19. Close linkage to C3, SE, PEPD, APOC2, D19S7, D19S8 and D19S9 was excluded. The most likely order would appear to be C3-SE-LU-A1BG...
  55. ncbi request reprint Genomic organization and chromosomal localization of three members of the UDP-N-acetylgalactosamine: polypeptide N-acetylgalactosaminyltransferase family
    E P Bennett
    Faculty of Health Sciences, School of Dentistry, University of Copenhagen, Copenhagen, Denmark
    Glycobiology 8:547-55. 1998
    ..These results suggest that the members of the polypeptide GalNAc-transferase family diverged early in evolution from a common ancestral gene through gene duplication...
  56. 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...
  57. 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
    ....
  58. ncbi request reprint Heterogeneity of FeNO response to inhaled steroid in asthmatic children
    F Buchvald
    Department of Paediatrics, Rigshospitalet, National University Hospital, Copenhagen, Denmark
    Clin Exp Allergy 33:1735-40. 2003
    ..Nitric oxide in exhaled air is regarded as an inflammation marker, and may be used to monitor the anti-inflammatory control from inhaled corticosteroids (ICSs). However, this response to ICSs exhibits a heterogeneous pattern...
  59. 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
    ....
  60. 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...
  61. 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...
  62. ncbi request reprint Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract
    Lei Bu
    Shanghai Research Center of Biotechnology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai 200233, People s Republic of China
    Nat Genet 31:276-8. 2002
    ..We also discovered an association between a missense mutation and Marner cataract in an extensive Danish family. We suggest that HSF4 is critical to lens development...
  63. ncbi request reprint The ADULT-EEC spectrum: an R280C mutation with a borderline phenotype
    Elisa Kier-Swiatecka
    Department of Oral and Maxillo Facial Surgery, Odense University Hospital, Odense, Denmark
    Am J Med Genet A 143:891-4. 2007
  64. ncbi request reprint The functional Pro129Thr variant of the FAAH gene is not associated with various fat accumulation phenotypes in a population-based cohort of 5,801 whites
    Dorit P Jensen
    Steno Diabetes Center, Niels Steensens Vej 2, 2820, Gentofte, Denmark
    J Mol Med (Berl) 85:445-9. 2007
    ..In conclusion, in a large study sample, we were unable to find robust evidence of an association of the Pro129Thr FAAH variant with overweight, obesity, and any related quantitative traits among the examined whites...
  65. ncbi request reprint Heat-shock protein 70 genes and human longevity: a view from Denmark
    Ripudaman Singh
    Department of Human Genetics, Bartholin Building, University of Aarhus, Denmark
    Ann N Y Acad Sci 1067:301-8. 2006
    ..We also found an age-dependant decline in the ability of peripheral blood mononuclear cells to respond to heat stress in terms of Hsp70 induction...
  66. 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
    ....
  67. pmc Screening for Y microdeletions in men with testicular cancer and undescended testis
    Pinar Bor
    Fertility Clinic, Aarhus, Denmark
    J Assist Reprod Genet 23:41-5. 2006
    ..To investigate a possible association between testicular cancer or undescended testis and Y microdeletions...
  68. pmc Genetic evidence that HNF-1alpha-dependent transcriptional control of HNF-4alpha is essential for human pancreatic beta cell function
    Sara K Hansen
    Steno Diabetes Center and Hagedorn Research Institute, Gentofte, Denmark
    J Clin Invest 110:827-33. 2002
    ..Furthermore, they indicate that this regulation is essential to maintain normal pancreatic function...
  69. ncbi request reprint Genomic structure of the human mitochondrial chaperonin genes: HSP60 and HSP10 are localised head to head on chromosome 2 separated by a bidirectional promoter
    Jens J Hansen
    Research Unit for Molecular Medicine, Faculty of Health Sciences and Arhus University Hospital, Arhus, Denmark
    Hum Genet 112:71-7. 2003
    ....
  70. doi request reprint A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia
    Filipe de Medeiros
    Department of Plastic and Reconstructive Surgery and Burns Unit, University Hospital of Copenhagen, Rigshospitalet, Denmark
    Am J Med Genet A 146:1605-8. 2008
    ..The patient and his brother were both conceived by in vitro fertilization (IVF). It is discussed whether the renal malformation in the patient is related to the IVF procedure or to the IRF6 mutation...
  71. ncbi request reprint Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperone system and their disease-causing potential
    Peter Bross
    Research Unit for Molecular Medicine, Skejby Sygehus, Aarhus University Hospital and Faculty of Health Sciences, Brendstrupgaardsvej 100, 8200, Arhus N, Denmark
    J Hum Genet 52:56-65. 2007
    ..Taken together, our data argue against the notion that the chaperonin genes play a major role in the investigated diseases. However, the described variations may represent genetic modifiers with subtle effects...
  72. ncbi request reprint LOH at chromosome 9q34.3 and the Notch1 gene methylation are less involved in oral squamous cell carcinomas
    Shan Gao
    Department of Molecular Biology, University of Aarhus, Aarhus C, Denmark
    J Oral Pathol Med 36:173-6. 2007
    ..2 are frequent. The present study investigates the frequency of Notch1 gene methylation and LOH at 9q34.3 region...
  73. pmc A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis
    Heiko Witt
    Department of Hepatology and Gastroenterology, Charite University Hospital, Augustenburger Platz 1, 13353 Berlin, Germany
    Nat Genet 38:668-73. 2006
    ..In conclusion, the G191R variant of PRSS2 mitigates intrapancreatic trypsin activity and thereby protects against chronic pancreatitis...