Hans Eiberg

Hans Eiberg

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Hans Eiberg

Publications by authors named "Hans Eiberg"

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A splice-site variant in the lncRNA gene cosegregates in the large Volkmann cataract family.

Mol Vis 2019 20;25:1-11. Epub 2019 Jan 20.

Copenhagen Center for Glycomics, Department of Cellular and Molecular Medicine, Panum Institute, University of Copenhagen, Copenhagen N, Denmark.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377377PMC
June 2019

Migraine is associated with high brain 5-HT levels as indexed by 5-HT receptor binding.

Cephalalgia 2019 Apr 8;39(4):526-532. Epub 2018 Aug 8.

1 Danish Headache Center and Department of Neurology, Rigshospitalet Glostrup, Glostrup, Denmark.

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http://dx.doi.org/10.1177/0333102418793642DOI Listing
April 2019

High brain serotonin levels in migraine between attacks: A 5-HT receptor binding PET study.

Neuroimage Clin 2018 28;18:97-102. Epub 2018 Jan 28.

Neurobiology Research Unit and NeuroPharm, Department of Neurology, Rigshospitalet, DK-2100 Copenhagen, Denmark.

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https://linkinghub.elsevier.com/retrieve/pii/S22131582183001
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http://dx.doi.org/10.1016/j.nicl.2018.01.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5790018PMC
January 2019

Genetic insights into fetal growth and measures of glycaemic regulation and adiposity in adulthood: a family-based study.

BMC Med Genet 2018 12 4;19(1):207. Epub 2018 Dec 4.

Section of Metabolic Genetics, The Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Blegdamsvej 3B, DK-2200, Copenhagen, Denmark.

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http://dx.doi.org/10.1186/s12881-018-0718-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6278142PMC
December 2018

Genetic Variations, Exposure to Persistent Organic Pollutants and Breast Cancer Risk - A Greenlandic Case-Control Study.

Basic Clin Pharmacol Toxicol 2018 Sep 23;123(3):335-346. Epub 2018 Apr 23.

Centre for Arctic Health & Molecular Epidemiology, Aarhus University, Aarhus C, Denmark.

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http://dx.doi.org/10.1111/bcpt.13002DOI Listing
September 2018

Heredity of supraglottic exercise-induced laryngeal obstruction.

Eur Respir J 2017 08 17;50(2). Epub 2017 Aug 17.

Respiratory Research Unit, Dept of Respiratory Medicine, Bispebjerg University Hospital, Copenhagen, Denmark.

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http://dx.doi.org/10.1183/13993003.00423-2017DOI Listing
August 2017

Abdominal Wall Defects in Greenland 1989-2015.

Birth Defects Res 2017 Jul 2;109(11):836-842. Epub 2017 May 2.

Department of Cellular and Molecular Medicine, Panum Institute, University of Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.1002/bdr2.1025DOI Listing
July 2017

Reply.

Ann Neurol 2016 07 10;80(1):168-9. Epub 2016 May 10.

Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1002/ana.24669DOI Listing
July 2016

Associations of the Inflammatory Marker YKL-40 with Measures of Obesity and Dyslipidaemia in Individuals at High Risk of Type 2 Diabetes.

PLoS One 2015 21;10(7):e0133672. Epub 2015 Jul 21.

Section of Metabolic Genetics, The Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0133672PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4510434PMC
May 2016

Blood-based biomarkers of age-associated epigenetic changes in human islets associate with insulin secretion and diabetes.

Nat Commun 2016 Mar 31;7:11089. Epub 2016 Mar 31.

Epigenetics and Diabetes Unit, Department of Clinical Sciences, Lund University Diabetes Centre, CRC 91:12, Jan Waldenströms gata 35, 20502 Malmö, Sweden.

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http://dx.doi.org/10.1038/ncomms11089DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821875PMC
March 2016

The analysis of a large Danish family supports the presence of a susceptibility locus for adenoma and colorectal cancer on chromosome 11q24.

Fam Cancer 2015 Sep;14(3):393-400

Department of Cellular and Molecular Medicine, Faculty of Health, Panum Institute 24.4, University of Copenhagen, Blegdamsvej 3B, 2200, Copenhagen N, Denmark.

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http://dx.doi.org/10.1007/s10689-015-9791-2DOI Listing
September 2015

Genetic and phenotypic correlations between surrogate measures of insulin release obtained from OGTT data.

Diabetologia 2015 May 9;58(5):1006-12. Epub 2015 Feb 9.

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,

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http://dx.doi.org/10.1007/s00125-015-3516-9DOI Listing
May 2015

Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia.

Hum Mol Genet 2014 Dec 1;23(23):6163-76. Epub 2014 Jul 1.

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,

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http://dx.doi.org/10.1093/hmg/ddu337DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4222360PMC
December 2014

The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract.

Eur J Hum Genet 2014 Nov 19;22(11):1290-7. Epub 2014 Feb 19.

Department of Biological Sciences, CW-405 Biological Sciences Building, University of Alberta, Edmonton, Alberta, Canada.

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http://dx.doi.org/10.1038/ejhg.2014.21DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4200433PMC
November 2014

Cardiac involvement in myotonic dystrophy: a nationwide cohort study.

Eur Heart J 2014 Aug 16;35(32):2158-64. Epub 2014 Apr 16.

Department of Epidemiology Research, Statens Serum Institut, Artillerivej 5, Copenhagen S, Denmark Department of Medicine, Stanford School of Medicine, Stanford, CA, USA.

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https://eurheartj.oxfordjournals.org/content/ehj/35/32/2158.
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http://eurheartj.oxfordjournals.org/cgi/doi/10.1093/eurheart
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http://dx.doi.org/10.1093/eurheartj/ehu157DOI Listing
August 2014

High heritability and genetic correlation of intravenous glucose- and tolbutamide-induced insulin secretion among non-diabetic family members of type 2 diabetic patients.

Diabetologia 2014 Jun 7;57(6):1173-81. Epub 2014 Mar 7.

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,

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http://dx.doi.org/10.1007/s00125-014-3207-yDOI Listing
June 2014

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.

Environ Health 2014 Mar 16;13(1):19. Epub 2014 Mar 16.

Centre for Arctic Health & Unit of Cellular and Molecular Toxicology, Department of Public Health, Aarhus University, Bartholins Álle 2, Build 1260, 8000 Aarhus C, Denmark.

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http://dx.doi.org/10.1186/1476-069X-13-19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4234380PMC
March 2014

ATXN2 with intermediate-length CAG/CAA repeats does not seem to be a risk factor in hereditary spastic paraplegia.

J Neurol Sci 2012 Oct 3;321(1-2):100-2. Epub 2012 Aug 3.

Danish Dementia Research Centre, Neurogenetics Clinic, Department of Neurology, Rigshospitalet, Copenhagen University Hospital, Denmark.

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http://dx.doi.org/10.1016/j.jns.2012.07.036DOI Listing
October 2012

GJB2 (Connexin-26) mutations are not frequent among hearing impaired patients in east Greenland.

Int J Audiol 2012 Jun 27;51(6):433-6. Epub 2012 Feb 27.

Department of Otolaryngology, Head & Neck Surgery, Rigshospitalet, Copenhagen, Denmark.

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http://dx.doi.org/10.3109/14992027.2012.660575DOI Listing
June 2012

The influence of parental history of diabetes and offspring birthweight on offspring glucose metabolism in adulthood.

Acta Obstet Gynecol Scand 2011 Dec 18;90(12):1357-63. Epub 2011 Oct 18.

Department of Gynecology and Obstetrics, Hvidovre Hospital, Hvidovre, Denmark.

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http://dx.doi.org/10.1111/j.1600-0412.2011.01276.xDOI Listing
December 2011

Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel.

Neurogenetics 2011 Aug 4;12(3):247-51. Epub 2011 Jun 4.

Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology & Genetic Engineering, Faisalabad, Pakistan.

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http://dx.doi.org/10.1007/s10048-011-0286-5DOI Listing
August 2011

500K SNP array analyses in blood and saliva showed no differences in a pair of monozygotic twins discordant for cleft lip.

Am J Med Genet A 2011 Mar 22;155A(3):652-5. Epub 2011 Feb 22.

Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, Panum Institute, Copenhagen, Denmark.

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http://doi.wiley.com/10.1002/ajmg.a.33855
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http://dx.doi.org/10.1002/ajmg.a.33855DOI Listing
March 2011

Human eye colour and HERC2, OCA2 and MATP.

Forensic Sci Int Genet 2010 Oct 12;4(5):323-8. Epub 2010 Jan 12.

Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health Sciences, University of Copenhagen, 11 Frederik V's Vej, DK-2100 Copenhagen, Denmark.

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http://dx.doi.org/10.1016/j.fsigen.2009.12.004DOI Listing
October 2010

A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family.

Mol Vis 2010 Mar 30;16:549-55. Epub 2010 Mar 30.

Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology & Genetic Engineering (NIBGE), Faisalabad, Pakistan.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2846847PMC
March 2010

A high frequent BRCA1 founder mutation identified in the Greenlandic population.

Fam Cancer 2009 7;8(4):413-9. Epub 2009 Jun 7.

Department of Cellular and Molecular Medicine, Faculty of Health Sciences, University of Copenhagen, Blegdamsvej 3, 2200 Copenhagen N, Denmark.

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http://dx.doi.org/10.1007/s10689-009-9257-5DOI Listing
January 2010

Huntington's disease-like and ataxia syndromes: identification of a family with a de novo SCA17/TBP mutation.

Parkinsonism Relat Disord 2010 Jan;16(1):12-5

Department of Cellular and Molecular Medicine, Section of Neurogenetics, The Panum Institute, University of Copenhagen, Denmark.

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http://dx.doi.org/10.1016/j.parkreldis.2009.06.006DOI Listing
January 2010

Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia.

J Neurol Sci 2009 Sep 6;284(1-2):90-5. Epub 2009 May 6.

Section of Neurogenetics, Department of Cellular and Molecular Medicine, University of Copenhagen, Denmark.

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http://dx.doi.org/10.1016/j.jns.2009.04.024DOI Listing
September 2009

Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract.

Invest Ophthalmol Vis Sci 2009 Jul 31;50(7):3291-303. Epub 2009 Jan 31.

Wilhelm Johannsen Centre for Functional Genome Research, Institute of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.1167/iovs.08-3149DOI Listing
July 2009

Compound heterozygous ASPM mutations in Pakistani MCPH families.

Am J Med Genet A 2009 May;149A(5):926-30

Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology & Genetic Engineering, Faisalabad, Pakistan.

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http://dx.doi.org/10.1002/ajmg.a.32749DOI Listing
May 2009

Determination of cis/trans phase of variations in the MC1R gene with allele-specific PCR and single base extension.

Electrophoresis 2008 Dec;29(23):4780-7

Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health Sciences, University of Copenhagen, Copenhagen, Denmark.

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http://doi.wiley.com/10.1002/elps.200800107
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http://dx.doi.org/10.1002/elps.200800107DOI Listing
December 2008

Hereditary phenotypes in nocturnal enuresis.

BJU Int 2008 Sep 28;102(7):816-21. Epub 2008 Jun 28.

Clinical Institute, Department of Paediatrics, Aarhus University Hospital, Skejby, Denmark.

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http://dx.doi.org/10.1111/j.1464-410X.2008.07781.xDOI Listing
September 2008

Autosomal inheritance of diabetes in two families characterized by obesity and a novel H241Q mutation in NEUROD1.

Pediatr Diabetes 2008 Aug 5;9(4 Pt 2):367-72. Epub 2008 Mar 5.

Department of Paediatrics, Second Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.

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http://dx.doi.org/10.1111/j.1399-5448.2008.00379.xDOI Listing
August 2008

A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia.

Am J Med Genet A 2008 Jun;146A(12):1605-8

Department of Plastic and Reconstructive Surgery and Burns Unit, University Hospital of Copenhagen, Rigshospitalet, Denmark.

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http://dx.doi.org/10.1002/ajmg.a.32257DOI Listing
June 2008

A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family.

Am J Med Genet A 2008 Apr;146A(8):1017-25

Wilhelm Johannsen Centre for Functional Genome Research, Institute of Cellular and Molecular Medicine, The Panum Institute, University of Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.1002/ajmg.a.32174DOI Listing
April 2008

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.

Hum Genet 2008 Mar 3;123(2):177-87. Epub 2008 Jan 3.

Department of Cellular and Molecular Medicine, Section IV Build. 24.4, Panum Institute, University of Copenhagen, Blegdamsvej 3b, 2200, Copenhagen, Denmark.

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http://dx.doi.org/10.1007/s00439-007-0460-xDOI Listing
March 2008

A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.

Eur J Hum Genet 2008 Mar 9;16(3):312-9. Epub 2008 Jan 9.

Department of Medical Genetics, Wilhelm Johannsen Centre for Functional Genome Research, Institute of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen N, Denmark.

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http://dx.doi.org/10.1038/sj.ejhg.5201985DOI Listing
March 2008

Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses.

Eur J Hum Genet 2007 Nov 18;15(11):1121-31. Epub 2007 Jul 18.

Wilhelm Johannsen Centre for Functional Genome Research, Section of Genetics, Institute of Cellular and Molecular Medicine, The Panum Institute, University of Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.1038/sj.ejhg.5201900DOI Listing
November 2007

Suggestive linkage to a neighboring region of IRF6 in a cleft lip and palate multiplex family.

Am J Med Genet A 2007 Nov;143A(22):2716-21

Department of Cellular and Molecular Medicine, Panum Institute, Wilhelm Johannsen Centre for Functional Genome Research, Copenhagen, Denmark.

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http://dx.doi.org/10.1002/ajmg.a.32011DOI Listing
November 2007

Novel MAF mutation in a family with congenital cataract-microcornea syndrome.

Mol Vis 2007 Oct 18;13:2019-22. Epub 2007 Oct 18.

The Wilhelm Johannsen Center for Functional Genome Research, University of Copenhagen, Copenhagen N, Denmark.

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October 2007

Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.

Invest Ophthalmol Vis Sci 2007 Sep;48(9):3937-44

Wilhelm Johannsen Centre for Functional Genome Research, Department G, Institute of Medical Biochemistry and Genetics, Panum Institute, University of Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.1167/iovs.07-0013DOI Listing
September 2007

Non-disjunction of chromosome 13.

Hum Mol Genet 2007 Aug 21;16(16):2004-10. Epub 2007 Jun 21.

Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Denmark.

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http://dx.doi.org/10.1093/hmg/ddm148DOI Listing
August 2007

A novel nonsense mutation in PAX9 is associated with marked variability in number of missing teeth.

Eur J Oral Sci 2007 Aug;115(4):330-3

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.

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http://ss.bjmu.edu.cn/departments/tsg/gound/ytsg/article/sci
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http://doi.wiley.com/10.1111/j.1600-0722.2007.00457.x
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http://dx.doi.org/10.1111/j.1600-0722.2007.00457.xDOI Listing
August 2007

CHEK2 1100delC is prevalent in Swedish early onset familial breast cancer.

BMC Cancer 2007 Aug 17;7:163. Epub 2007 Aug 17.

Department of Oncology, Karolinska University Hospital at Södersjukhuset, Stockholm, Sweden.

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http://bmccancer.biomedcentral.com/articles/10.1186/1471-240
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http://dx.doi.org/10.1186/1471-2407-7-163DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1994956PMC
August 2007

The ADULT-EEC spectrum: an R280C mutation with a borderline phenotype.

Am J Med Genet A 2007 Apr;143A(8):891-4

Department of Oral and Maxillo-facial Surgery, Odense University Hospital, Odense, Denmark.

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http://dx.doi.org/10.1002/ajmg.a.31654DOI Listing
April 2007

Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperone system and their disease-causing potential.

J Hum Genet 2007 27;52(1):56-65. Epub 2006 Oct 27.

Research Unit for Molecular Medicine, Skejby Sygehus, Aarhus University Hospital and Faculty of Health Sciences, Brendstrupgaardsvej 100, 8200, Arhus N, Denmark.

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http://dx.doi.org/10.1007/s10038-006-0080-7DOI Listing
March 2007

LOH at chromosome 9q34.3 and the Notch1 gene methylation are less involved in oral squamous cell carcinomas.

J Oral Pathol Med 2007 Mar;36(3):173-6

Department of Molecular Biology, University of Aarhus, Aarhus C, Denmark.

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http://doi.wiley.com/10.1111/j.1600-0714.2007.00520.x
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http://dx.doi.org/10.1111/j.1600-0714.2007.00520.xDOI Listing
March 2007

[From research to prevention in Greenland. Greenland Medical Society].

Ugeskr Laeger 2007 Mar;169(12):1105

IMBG 24,4, Panum Instituttet, DK-2200 København N.

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March 2007

Variation in CAPN10 in relation to type 2 diabetes, obesity and quantitative metabolic traits: studies in 6018 whites.

Mol Genet Metab 2006 Dec 20;89(4):360-7. Epub 2006 Jul 20.

Steno Diabetes Center, Niels Steensens Vej 2, DK-2820 Gentofte, Copenhagen, Denmark.

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http://linkinghub.elsevier.com/retrieve/pii/S109671920600215
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http://dx.doi.org/10.1016/j.ymgme.2006.06.003DOI Listing
December 2006

The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46.

Mol Vis 2006 Sep 1;12:1033-9. Epub 2006 Sep 1.

The Wilhelm Johannsen Centre for Functional Genome Research, Institute of Medical Biochemistry and Genetics, University of Copenhagen, Copenhagen, Denmark.

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September 2006

Heat-shock protein 70 genes and human longevity: a view from Denmark.

Ann N Y Acad Sci 2006 May;1067:301-8

Department of Human Genetics, Bartholin Building, University of Aarhus, Denmark.

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http://dx.doi.org/10.1196/annals.1354.040DOI Listing
May 2006

Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified.

Eur J Hum Genet 2005 Dec;13(12):1275-84

The Wilhelm Johannsen Centre for Functional Genome Research, Institute of Medical Biochemistry and Genetics, Panum Institute, University of Copenhagen, Copenhagen N, Denmark.

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http://www.nature.com/articles/5201491
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http://dx.doi.org/10.1038/sj.ejhg.5201491DOI Listing
December 2005

A 72-year-old Danish puzzle resolved--comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions.

Am J Med Genet A 2005 Nov;138(4):328-39

Department of Medical Biochemistry and Genetics, Wilhelm Johannsen Centre for Functional Genome Research, University of Copenhagen, Denmark.

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http://doi.wiley.com/10.1002/ajmg.a.30971
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http://dx.doi.org/10.1002/ajmg.a.30971DOI Listing
November 2005

Male-to-male transmission in Laurin-Sandrow syndrome and exclusion of RARB and RARG.

Am J Med Genet A 2005 Aug;137(2):148-52

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.

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http://dx.doi.org/10.1002/ajmg.a.30820DOI Listing
August 2005

Mapping of hereditary trichilemmal cyst (TRICY1) to chromosome 3p24-p21.2 and exclusion of beta-CATENIN and MLH1.

Am J Med Genet A 2005 Feb;133A(1):44-7

Department of Medical Biochemistry and Genetics, University of Copenhagen, Copenhagen, Denmark.

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http://doi.wiley.com/10.1002/ajmg.a.30568
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http://dx.doi.org/10.1002/ajmg.a.30568DOI Listing
February 2005

Mosaicism of the CAG repeat sequence in the Huntington disease gene in a pair of monozygotic twins.

Am J Med Genet A 2004 Oct;130A(2):154-9

Institute of Medical Biochemistry and Genetics, Section of Neurogenetics, University of Copenhagen, DK-2200 Copenhagen, Denmark.

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http://dx.doi.org/10.1002/ajmg.a.30128DOI Listing
October 2004

Mutation analysis of the Sonic hedgehog promoter and putative enhancer elements in Parkinson's disease patients.

Brain Res Mol Brain Res 2004 Jul;126(2):207-11

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.

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http://dx.doi.org/10.1016/j.molbrainres.2004.04.005DOI Listing
July 2004

Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair.

Am J Med Genet A 2004 Jun;127A(2):152-7

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.

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http://doi.wiley.com/10.1002/ajmg.a.20614
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http://dx.doi.org/10.1002/ajmg.a.20614DOI Listing
June 2004

Genetic and epigenetic alterations of the blood group ABO gene in oral squamous cell carcinoma.

Int J Cancer 2004 Mar;109(2):230-7

School of Dentistry, University of Copenhagen, Denmark.

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http://dx.doi.org/10.1002/ijc.11592DOI Listing
March 2004

Frequency of the HFE C282Y and H63D mutations in Danish patients with clinical haemochromatosis initially diagnosed by phenotypic methods.

Eur J Haematol 2003 Dec;71(6):403-7

Department of Medicine B, Rigshospitalet, University of Copenhagen, Denmark.

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http://dx.doi.org/10.1046/j.0902-4441.2003.00156.xDOI Listing
December 2003

Mutational analysis of the human FATE gene in 144 infertile men.

Hum Genet 2003 Aug 14;113(3):195-201. Epub 2003 Jun 14.

Laboratory of Reproductive Biology, Rigshospitalet, DK-2100, Copenhagen, Denmark.

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http://dx.doi.org/10.1007/s00439-003-0974-9DOI Listing
August 2003

Genomic structure of the human mitochondrial chaperonin genes: HSP60 and HSP10 are localised head to head on chromosome 2 separated by a bidirectional promoter.

Hum Genet 2003 Apr;112(4):436

Research Unit for Molecular Medicine, Faculty of Health Sciences and Århus University Hospital, Brendstrupgaardsvej, 8200 Århus N, Denmark, , , , .

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http://dx.doi.org/10.1007/s00439-003-0927-3DOI Listing
April 2003

Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract.

Nat Genet 2002 Jul 24;31(3):276-8. Epub 2002 Jun 24.

Shanghai Research Center of Biotechnology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai 200233, People's Republic of China.

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http://www.nature.com/doifinder/10.1038/ng921
Publisher Site
http://dx.doi.org/10.1038/ng921DOI Listing
July 2002