The DNA sequence, annotation and analysis of human chromosome 3. / Muzny, D.M.; Bolund, Lars; As part of the Chinese Human Genome Sequencing Consortium, E.T.A.L. et al.
In: Nature, Vol. 440, 2006, p. 1194-1198.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
TreeFam: a curated database of phylogenetic trees of animal gene families. / Li, Heng; Coghlan, Avril; Ruan, Jue et al.
In: Nucleic Acids Research, Vol. 34, No. Database issue, 2006, p. D572-80.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
TreeFam: a curated database of phylogenetic trees of animal gene families. / Li, H.; Coghlan, A.; Ruan, J. et al.
In: Nucleic Acids Research, Vol. 34, 2006, p. D572-D580.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
WEGO: a web tool for plotting GO annotations. / Ye, Jia; Fang, Lin; Zheng, Hongkun et al.
In: Nucleic Acids Research, Vol. 34, No. Web Server issue, 2006, p. W293-7.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Efficient in vitro production of porcine blastocysts by handmade cloning with a combined electrical and chemical activation. / Kragh, Peter Michael; Du, Yutao; Corydon, Thomas Juhl et al.
In: Theriogenology, Vol. 64, No. 7, 15.08.2005, p. 1536-1545.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Erratum : Site-specific strand bias in gene correction using single-stranded oligonucleotides (Journal of Molecular Medicine (2005) 83 (39-49) DOI: 10.1007/s00109-004-0592-6). / Sørensen, Charlotte B.; Krogsdam, Anne Margrethe; Andersen, Marie S. et al.
In: Journal of Molecular Medicine, Vol. 83, No. 6, 01.06.2005, p. 495-496.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Comment/debate/letter to the editor › Research › peer-review
A microarray analysis of the rice transcriptome and its comparison to Arabidopsis. / Ma, Ligeng; Chen, Chen; Liu, Xigang et al.
In: Genome Research, Vol. 15, No. 9, 2005, p. 1274-83.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Beijing Region (3pter-D3S3397) of the Human Genome: Complete sequence and analysis. / Bao, J.; Bao, Q.; Bao, W. et al.
In: Science in China Ser. C Life Sciences, Vol. 48, No. 4, 2005, p. 311-329 (English version).Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Beijing Region (3pter-D3S3397) of the human genome: Complete sequence and analysis. / Bao, J.; Bao, Q.; Bao, W. et al.
In: Science in China Ser. C Life Sciences, Vol. 35, No. 4, 2005, p. 286-303 (Chinese version).Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Cell Nuclear Transfer. / Du, Yutao (Inventor); Vajta, G. (Inventor); Kragh, Peter Michael (Inventor) et al.
Patent No.: PA 2005 01256.Research output: Patent
Combined electrical and chemical activation of zona-free porcine oocytes. / Kragh, Peter; Mtango, Namdori R; Corydon, T J et al.
In: Reproduction, Fertility and Development, Vol. 17, No. 1 & 2, 2005, p. 284-285.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Expression of three different mutations in the arginine vasopressin gene suggests genotype-phenotype correlation in familial neurohypophyseal diabetes insipidus kindreds. / Siggaard, Charlotte; Christensen, Jane Hvarregaard; Corydon, Thomas Juhl et al.
In: Clinical Endocrinology, Vol. 63, No. 2, 2005, p. 207-216.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
High overall in vitro efficiency of porcine handmade cloning (HMC) combining partial zona digestion and oocyte trisection with sequential culture. / Du, Y; Kragh, P M; Zhang, X et al.
In: Cellular Reprogramming, Vol. 7, No. 3, 2005, p. 199-205.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization. / Zhang, X.; Snijders, A.; Zhang, X. et al.
In: Am. J. Hum. Genet., Vol. 76, 2005, p. 312-326.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2. / Buckley, Patrick G; Mantripragada, Kiran K; Díaz de Ståhl, Teresita et al.
In: Human Mutation, Vol. 26, No. 6, 2005, p. 540-9.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Pigs in Sequence Space: A 0.66X Coverage Pig Genome Survey based on Shotgun Sequencing. / Wernersson, R; Schierup, Mikkel Heide; Jørgensen, Frank Grønlund et al.
In: B M C Genomics, Vol. 6, No. 70, 2005.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Protein Misfolding, Aggregation, and Degradation in Disease. / Gregersen, Niels; Bolund, Lars; Bross, Peter.
In: Molecular Biotechnology, Vol. 31, No. 2, 2005, p. 141-50.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
SNP genotyping using microsphere-linked PNA and flow cytometric detection. / Rockenbauer, E.; Petersen, K.; Vogel, U. et al.
In: Cytometry. Part A, Vol. 64A, No. 2, 2005, p. 80-86.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Site-specific strand bias in gene correction using single-stranded oligonucleotides. / Sørensen, Charlotte B; Krogsdam, Anne-Margrethe; Andersen, Marie S et al.
In: Journal of Molecular Medicine, Vol. 83, No. 1, 2005, p. 39-49.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Erratum : Functional testing of keratin 14 mutant proteins associated with the three major types of epidermolysis bullosa simplex (Experimental Dermatology (2003) vol. 12 (472-479)). / Sorensen, C. B.; Andresen, B. S.; Jensen, U. B. et al.
In: Experimental Dermatology, Vol. 13, No. 7, 01.07.2004.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Comment/debate/letter to the editor › Research › peer-review
Side population cells in human and mouse epidermis lack stem cell characteristics. / Triel, Charlotte; Vestergaard, Malene Eun; Bolund, Lars et al.
In: Experimental Cell Research, Vol. 295, No. 1, 15.04.2004, p. 79-90.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Differential cellular handling of defective arginine vasopressin (AVP) prohormones in cells expressing mutations of the AVP gene associated with autosomal dominant and recessive familial neurohypophyseal diabetes insipidus. / Christensen, Jane Hvarregaard; Siggaaard, Charlotte; Corydon, Thomas Juhl et al.
In: Journal of Clinical Endocrinology and Metabolism, Vol. 89, No. 9, 2004, p. 4521-4531.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Finishing the euchromatic sequence of the human genome. / Bolund, Lars; As part of the International Human Genome Sequencing Consortium, E.T.A.L.
In: Nature, Vol. 431, 2004, p. 931-945.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Impaired trafficking of mutated AVP prohormone in cells expressing rare disease genes causing autosomal dominant familial neurohypophyseal diabetes insipidus. / Christensen, Jane Hvarregaard; Siggaard, Charlotte; Corydon, Thomas Juhl et al.
In: Clinical Endocrinology, Vol. 60, No. 1, 2004, p. 125-136.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Production of transgenic porcine blastocysts by hand-made cloning. / Kragh, P.M.; Vajta, G.; Corydon, T.J. et al.
In: Reprod Fertil Dev, Vol. 16, No. 3, 2004, p. 315-318.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Short PNA molecular beacons for real-time PCR allelic discrimination of single nucleotide polymorphisms. / Petersen, K.; Vogel, U.; Rockenbauer, E. et al.
In: Molecular and Cellular Probes, Vol. 18, No. 2, 2004, p. 117-122.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research
Expression and localization of peroxisome proliferator-activated receptors and nuclear factor kappaB in normal and lesional psoriatic skin. / Westergaard, Majken; Henningsen, Jeanette; Johansen, Claus et al.
In: Journal of Investigative Dermatology, Vol. 121, No. 5, 01.11.2003, p. 1104-17.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Functional testing of keratin 14 mutant proteins associated with the three major subtypes of epidermolysis bullosa simplex. / Sørensen, Charlotte B; Andresen, Brage S; Jensen, Uffe B et al.
In: Experimental Dermatology Online, Vol. 12, No. 4, 08.2003, p. 472-9.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Integrating proteomic and functional genomic technologies in discovery-driven translational breast cancer research. / Celis, Julio E; Gromov, Pavel; Gromova, Irina et al.
In: Molecular and Cellular Proteomics, Vol. 2, No. 6, 06.2003, p. 369-77.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Platelet derived growth factor (PDGF) responsive epidermis formed from human keratinocytes transduced with the PDGF beta receptor gene. / Rollman, Ola; Jensen, Uffe Birk; Ostman, Arne et al.
In: Journal of Investigative Dermatology, Vol. 120, No. 5, 01.05.2003, p. 742-9.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Erratum : Genomic structure of the human mitochondrial chaperonin genes: HSP60 and HSP10 are localised head to head on chromosome 2 separated by a bidirectional promoter (Human Genetics (2003) 112 (71-77)). / Hansen, Jens J.; Bross, Peter; Westergaard, Majken et al.
In: Human Genetics, Vol. 112, No. 4, 01.04.2003.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Comment/debate/letter to the editor › Research › peer-review
Epidermolysis bullosa simplex keratinocytes with extended lifespan established by ectopic expression of telomerase. / Jensen, Thomas G; Sørensen, Charlotte B; Jensen, Uffe B et al.
In: Experimental Dermatology Online, Vol. 12, No. 1, 02.2003, p. 71-7.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Production of retroviral vectors in primary human keratinocytes after DNA-mediated gene transfer leads to prolonged gene expression. / Jensen, Thomas G; Jensen, Uffe Birk; Bolund, Lars.
In: Acta Dermato Venereologica, Vol. 83, No. 2, 01.01.2003, p. 83-7.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
A population threshold for functional polymorphisms. / Wong, G.K.-S.; Yang, Z.; Passey, D.A. et al.
In: Genome Research, No. 13, 2003, p. 1873-1879.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research
Expression of short-chain acyl-CoA dehydrogenase (SCAD) proteins in the liver of SCAD deficient mice after hydrodynamic gene transfer. / Holm, D.A.; Dagnaes-Hansen, F.; Simonsen, H. et al.
In: Mol. Genet. Metab., No. 78, 2003, p. 250-258.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research
Expression of short-chain acyl-CoA dehydrogenase (SCAD) proteins in the liver of SCAD deficient mice after hydrodynamic gene transfer. / Peters, David Alberg; Dagnaes-Hansen, Frederik; Simonsen, Henrik et al.
In: Molecular Genetics and Metabolism, Vol. 78, No. 4, 2003, p. 250-8.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Genomic structure of the human mitochondrial chaperonin genes: Hsp60 and Hsp10 are localised head to head on chromosome 2 separated by a bidirectional promoter. / Hansen, J.J.; Bross, P.; Westergaard, M. et al.
In: Human Genet, No. 112, 2003, p. 71-77.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Konformationssygdomme. / Gregersen, N.; Bolund, L.
In: Ugeskrift for Laeger, No. 165, 2003, p. 801-805.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research
Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency. / Pedersen, Christina Bak; Bross, P.; Winter, V.S. et al.
In: Journal of Biological Chemistry, Vol. 278, No. 48, 2003, p. 47449-47458.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research
Potent influence of bovine serum proteins in experimental dendritic cell-based vaccination protocols. / Toldbod, Helle; Agger, R; Bolund, L et al.
In: Scandinavian Journal of Immunology, Vol. 58, No. 1, 2003, p. 43-50.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Protein misfolding, aggregation, and degradation in disease. / Gregersen, N.; Bolund, L.; Bross, P. et al.
Methods in molecular biology: Protein misfolding and disease. Principles and protocols. Totowa, New Jersey : Humana Press, 2003. p. 3-16.Research output: Contribution to book/anthology/report/proceeding › Book chapter › Research
Twelve single nucleotide polymorphisms on chromosome 19q13.2-3 : Linkage disequilibria and associations with basal cell carcinoma in Danish psoriatic patients. / Yin, J.; Vogel, U.; Gerdes, Ulrik et al.
In: Biochemical Genetics, Vol. 1-2, No. 41, 2003, p. 27-37.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research
Rapid genotyping of human ERCC1 exon 4 polymorphism with fluorescence analysis using fluorophore-labeled hybridization probes and a Lightcycler. / Yin, Jiaoyang; Hedayati, Mohammad A.; Grossman, Lawrence et al.
In: Biochemical Genetics, Vol. 40, No. 3-4, 01.01.2002, p. 143-148.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Association of chromosome 19q13.2-3 haplotypes with basal cell carcinoma: Tentative delineation of an involved region using data for single nucleotide polymorphisms in two cohorts. / Rockenbauer, E.; Bendixen, M.H.; Bukowy, Z. et al.
In: Carcinogenesis, Vol. 23, 2002, p. 1149-1153.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research
Genomic organization, transcript variants and comparative analysis of the human nucleoporin 155 (NUP155) gene. / Zhang, X.; Yang, J.; Yu, J. et al.
In: Gene, Vol. 288, 2002, p. 9-18.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research
Genomic structure of the human mitochondrial chaperonin genes: HSP60 and HSP10 are localised head to head on chromosome 2 separated by a bidirectional promoter. / Hansen, Jens J; Bross, Peter; Westergaard, Majken et al.
In: Human Genetics, Vol. 112, No. 1, 2002, p. 71-7.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Grisetid. Grisens arvemasse er nu ved at blive kortlagt i et stort dansk-kinesisk samarbejde. / Bolund, L.
In: Ugeskrift for Laeger, Vol. 164, 2002, p. 6050-6051.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research
Keratoacanthomas frequently show chromosomal aberrations as assessed by comparative genomic hybridization (CGH). / Clausen, O.P.F.; Beigi, M.; Bolund, L. et al.
In: J Investigative Dermatology, Vol. 119, 2002, p. 1367-1372.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research
Mechanisms underlying targeted gene correction using chimeric RNA/DNA and single-stranded DNA oligonucleotides. / Andersen, Marie S; Sørensen, Charlotte B; Bolund, Lars et al.
In: Journal of Molecular Medicine, Vol. 80, No. 12, 2002, p. 770-781.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Multiple single nucleotide polymorphisms on human chromosome 19q13.2-3 associate with risk of basal cell carcinoma. / Yin, Y.; Rockenbauer, E.; Hedayati, M.A. et al.
In: Cancer Epidemiology, Biomarkers, and Prevention, Vol. 11, 2002, p. 1449-1453.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research
Rapid genotying of human ERCC1 exon 4 polymorphism with fluorescence analysis using fluorophore-labelled hybridization probes and a lightCyclerTM. / Yin, J.; Hedayati, M.; Grossman, L. et al.
In: Biochem Genet, Vol. 40, 2002, p. 143-148.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research
LDL receptor-GFP fusion proteins : new tools for the characterisation of disease-causing mutations in the LDL receptor gene. / Holst, H U; Dagnaes-Hansen, F; Corydon, T J et al.
In: European Journal of Human Genetics, Vol. 9, No. 11, 11.2001, p. 815-22.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Modulation of keratinocyte gene expression and differentiation by PPAR-selective ligands and tetradecylthioacetic acid. / Westergaard, M; Henningsen, J; Svendsen, M L et al.
In: Journal of Investigative Dermatology, Vol. 116, No. 5, 01.05.2001, p. 702-12.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
A strategy combining flow sorting and comparative genomic hybridization for studying genetic aberrations at different stages of colorectal tumorigenesis in ulcerative colitis. / Clausen, O. P.F.; Andersen, S. N.; Strømkjær, H. et al.
In: Cytometry, Vol. 43, No. 1, 01.01.2001, p. 46-54.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
A strategy combining flow sorting and comparative genome hybridisation for studying genetic aberrations at different stages of colorectal tumorigenesis in ulcerative colitis. / Clausen, O.P.; Andersen, S.N.; Strømkjær, H. et al.
In: Cytometry. Part B: Clinical Cytometry, Vol. 43, No. 1, 2001, p. 46-54.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research
Det humane genomprojekt - status og perspektiver. / Børglum, A.D.; Bolund, L.
In: Ugeskrift for Laeger, Vol. 163, No. 36, 2001, p. 4853-4856.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Kortlægning af det humane genom - biomedicinske anvendelser og perspektiver. / Børglum, A.D.; Bolund, L.
In: Medicus, Vol. 3, 2001, p. 11-14.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Communication
LDL receptor-GFP fusion proteins: new tools for the characterisation of disease-causing mutations in the LDL receptor gene. / Holst, H.U.; Dagnaes-Hansen, F.; Corydon, T.J. et al.
In: Eur J Hum Genet, Vol. 9, No. 11, 2001, p. 815-822.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research
Modulation of keratinocyte gene expression and differentiation and PPAR-selective ligands and tetradecylthioacetic acid. / Westergaard, M.; Henningsen, J.; Svendsen, M.L. et al.
In: J. Invest. Dermatol., Vol. 116, 2001, p. 702-712.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research
Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship. / Gregersen, N; Andresen, B S; Corydon, M J et al.
In: Human Mutation, Vol. 18, No. 3, 2001, p. 169-89.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Primed in situ labelling. / Hindkjær, J.; Bolund, L.; Kølvraa, S.
In: Methods Cell Biol, Vol. 64, 2001, p. 55-68.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Review › Research
The role of chaperone-assisted folding and quality control in inborn errors of metabolism: protein folding disorders. / Gregersen, Niels; Bross, Peter Gerd; Andresen, Brage Storstein et al.
In: Journal of Inherited Metabolic Disease, Vol. 24, No. 2, 2001, p. 189.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Transgene expression in human epidermal keratinocytes: cell cycle arrest of productively transfected cells. / Jensen, Uffe Birk; Petersen, M S; Lund, T B et al.
In: Experimental Dermatology, Vol. 9, No. 4, 01.08.2000, p. 298-310.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Characterization of mouse Clpp protease cDNA, gene, and protein. / Andresen, B S; Corydon, T J; Wilsbech, M et al.
In: Mammalian Genome, Vol. 11, No. 4, 2000, p. 275-80.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Characterization of murine dendritic cells derived from adherent blood mononuclear cells in vitro. / Agger, R; Petersen, M S; Toldbod, Helle et al.
In: Scandinavian Journal of Immunology, Vol. 52, No. 2, 2000, p. 138-47.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Complete loss of wild type TP53 in a non-transformed human breast epithelial cell line is preceded by a phase during which a heterozygous TP53 mutant effectively outgrows the homozygous wild type cells. / Villadsen, R.; Nielsen, Kirsten Vang; Bolund, L. et al.
In: Cancer Genetics and Cytogenetics, Vol. 116, No. 1, 2000, p. 28-34.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research
Epidermolysis bullosa simplex: Korrelation mellem genotype og fænotype hos danske patienter. / Sørensen, C.B.; Ladekjær-Mikkelsen, A.-S.; Andresen, B.S. et al.
In: Ugeskrift for Laeger, Vol. 162, 2000, p. 1873-1876.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Fugu rubripes DNA sequence from cosmid 78K09 containing NUP153. / Zhang, X.; Chen, C.; Bao, J. et al.
In: GenBank Submission, 2000, p. 355033-355033.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Gener og sygdom. / Hertz, J.M.; Jensen, P.K.A.; Bolund, L.
Odontologisk årbog. København : Handelshøjskolens Forlag, 2000. p. 69-84.Research output: Contribution to book/anthology/report/proceeding › Book chapter › Research
Grp78 is involved in retention of mutant low density lipoprotein receptor protein in the endoplasmic reticulum. / Jørgensen, M M; Jensen, O N; Holst, H U et al.
In: Journal of Biological Chemistry, Vol. 275, No. 43, 2000, p. 33861-8.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Homo sapiens mRNA for ClpX-like protein. / Corydon, T.J.; Wilsbech, M.; Jespersgaard, C. et al.
In: GenBank/EMBL, 2000, p. 6267-6267.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research
Homo sapiens partial CLPX gene, exon 1 and joined cds (exons 1-14). / Corydon, T.J.; Wilsbech, M.; Jespersgaard, C. et al.
In: GenBank/EMBL, 2000, p. 276980-276980.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research
Human and mouse mitochondrial orthologs of bacterial ClpX. / Corydon, T J; Wilsbech, M; Jespersgaard, C et al.
In: Mammalian Genome, Vol. 11, No. 10, 2000, p. 899-905.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Keratinsygdomme : Oversigtsartikel. / Jensen, P.K.A.; Sørensen, C.B.; Andresen, B.S. et al.
In: Ugeskrift for Laeger, Vol. 162, 2000, p. 1867-1872.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Review › Research
Mus musculus partial mRNA for CLPX. / Corydon, T.J.; Wilsbech, M.; Jespersgaard, C. et al.
In: GenBank/EMBL, 2000, p. 276991-276991.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research
Strain-specific variations in the development of dendritic cells in murine bone-marrow cultures. / Petersen, M S; Toldbod, Helle; Holtz, S et al.
In: Scandinavian Journal of Immunology, Vol. 51, No. 6, 2000, p. 586-94.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Clinical and molecular evidence of abnormal processing and trafficking of the vasopressin preprohormone in a large kindred with familial neurohypophyseal diabetes insipidus due to a signal peptide mutation. / Siggaard, C; Rittig, S; Corydon, T J et al.
In: Endocrinology, Vol. 84, No. 8, 08.1999, p. 2933-41.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Normolipidemia and hypercholesterolemia in persons heterozygous for the same 1592+5G→A splice site mutation in the low-density lipoprotein receptor gene. / Jensen, Henrik Kjaeruf; Jensen, L. G.; Holst, H. U. et al.
In: Clinical Genetics, Vol. 56, No. 5, 01.01.1999, p. 379-389.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
163797 bp human genomic DNA sequence: Human BAC clone djn 085006 containing the NUP155 gene from chromosome 5p13. / Zhang, X.; Yu, J.; Hu, S. et al.
In: GenBank Submission bankit279995 1 of 1, 1999, p. 1-91.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. / Andresen, B S; Olpin, S; Poorthuis, B J et al.
In: American Journal of Human Genetics, Vol. 64, No. 2, 1999, p. 479-94.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Clinical and molecular evidence of abnormal processing and trafficking of the vasopressin preprohormone in a large kindred with familial neurohypophyseal diabetes insipidus due to a signal peptide mutation. / Siggaard, C.; Rittig, S.; Corydon, T.J. et al.
In: Journal of Clinical Endocrinology and Metabolism, Vol. 84, 1999, p. 2933-2941.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research
Comparison of three methods of microsatellite detection. / Christensen, Mariann; Sunde, Lone; Bolund, L et al.
In: Scandinavian Journal of Clinical & Laboratory Investigation, Vol. 59, No. 3, 1999, p. 167-77.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
DNA-based prenatal diagnosis for very-long-chain acyl-CoA dehydrogenase deficiency. / Andresen, B.S.; Olpin, S.; Kvittingen, E.A. et al.
In: J. Inher. Metab. Dis, Vol. 22, 1999, p. 281-285.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research
De genteknologiske valg. / Bolund, L.; Christiansen, G.; Dahl, H. et al.
ISBN 87-601-7129-4 ed. Erhvervsministeriet, 1999. 149 p.Research output: Book/anthology/dissertation/report › Book › Research
Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: Correlation between genotype and phenotype. / Sørensen, C.B.; Ladekjær-Mikkelsen, A.-S.; Andresen, B.S. et al.
In: J. Invest. Dermatol., Vol. 112, 1999, p. 184-190.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Klinisk genetik : Et nyt tværgående grundspeciale. / Lundsteen, C.; Bolund, L.; Gerdes, A.-M. et al.
In: Ugeskrift for Laeger, No. Klaringsrapport nr. 5, 1999, p. 1-9.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research
Kortlægningen af menneskets arvemasse med håb om sygdomsforebyggelse og behandling - eller forestillinger om det genetisk designede menneske. / Bolund, L.; nullEtiskeRåd, Det (Editor).
Det menneskeskabte Menneske. 1999. p. 21-28.Research output: Contribution to book/anthology/report/proceeding › Book chapter › Research
Localization of a human nucleoporin 155 gene (Nup155) to the 5p13 region and cloning of its cDNA. / Zhang, X.; Yang, H.; Corydon, M.J. et al.
In: Genomics, Vol. 57, 1999, p. 144-151.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research
Medicinsk genetik. / Bolund, L.; nullNordiskForlagArnoldBusckA/S, Nyt (Editor).
Medicinsk Kompendium: 15th edition, Chapter 14. København, 1999.Research output: Contribution to book/anthology/report/proceeding › Book chapter › Research
Normolipidemia and familial hypercholesterolemia in persons heterozygous for the same splice mutation (1592+5G→A) in the LDL receptor gene. / Jensen, Henrik Kjærulf; Jensen, L.G.; Holst, H.U. et al.
In: Clin Genetics, No. 56, 1999, p. 378-388.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research
Protein misfolding and degradation in genetic diseases. / Bross, P; Corydon, T J; Andresen, B S et al.
In: Human Mutation, Vol. 14, No. 3, 1999, p. 186-98.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Somatisk genterapi. / Jensen, Thomas G.; Bolund, L.; Munksgaard (Editor).
Medicinsk årbog 1999. København, 1999. p. 145-151.Research output: Contribution to book/anthology/report/proceeding › Book chapter › Research
Rapid degradation of short-chain acyl-CoA dehydrogenase variants with temperature-sensitive folding defects occurs after import into mitochondria. / Corydon, T J; Bross, P; Jensen, T G et al.
In: Journal of Biological Chemistry, Vol. 273, No. 21, 22.05.1998, p. 13065-71.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
A human homologue of Escherichia coli CIpP caseinolytic protease : Recombinant expression, intracellular processing and subcellular localization. / Corydon, Thomas J.; Bross, Peter; Holst, Henrik U. et al.
In: Biochemical Journal, Vol. 331, No. 1, 01.04.1998, p. 309-316.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients : One of the variant alleles, 511C→T, is present at an unexpectedly high frequency in the general population, as was the case for 625G→A, together conferring susceptibility to ethylmalonic aciduria. / Gregersen, Niels; Winter, Vibeke S.; Corydon, Morten J. et al.
In: Human Molecular Genetics, Vol. 7, No. 4, 01.04.1998, p. 619-627.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Molecular cytogenetic analysis of a nontumorigenic human breast epithelial cell line that eventually turns tumorigenic : Validation of an analytical approach combining karyotyping, comparative genomic hybridization, chromosome painting, and single-locus fluorescence in situ hybridization. / Nielsen, Kirsten Vang; Niebuhr, Erik; Ejlertsen, Bent et al.
In: Genes Chromosomes and Cancer, Vol. 20, No. 1, 01.09.1997, p. 30-37.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
A common W556S mutation in the LDL receptor gene of Danish patients with familial hypercholesterolemia encodes a transport-defective protein. / Jensen, H K; Holst, H; Jensen, L G et al.
In: Atherosclerosis, Vol. 131, No. 1, 05.1997, p. 67-72.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients : Is there correlation between genotype and phenotype? / Andresen, Brage Storstein; Bross, Peter; Udvari, Szabolcs et al.
In: Human Molecular Genetics, Vol. 6, No. 5, 05.1997, p. 695-707.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
A de novo complex t(7;13;8) translocation with a deletion in the TRPS gene region. / Brandt, Carsten A.; Lüdecke, Hermann Josef; Hindkjær, Johnny et al.
In: Human Genetics, Vol. 100, No. 3-4, 01.01.1997, p. 334-338.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Two mutations in the same low-density lipoprotein receptor allele act in synergy to reduce receptor function in heterozygous familial hypercholesterolemia. / Jensen, H K; Jensen, T G; Faergeman, O et al.
In: Human Mutation, Vol. 9, No. 5, 1997, p. 437-44.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review