Lars Hansen

Publikation

Publikationer pr. år 2005 2005 2006 2008 2011 2012 2013 2014 2016 2018 2019 2019

• 38 Tidsskriftartikel
• 2 Bidrag til bog/antologi
• 2 Kommentar/debat
• 2 Konferenceabstrakt i tidsskrift
• 1 Mere
  • 1 Letter

Publikationer pr. år

Publikationer pr. år

Søgeresultater

• 2019

  An Atlas of Human Glycosylation Pathways Enables Display of the Human Glycome by Gene Engineered Cells

  Narimatsu, Y., Joshi, H. J., Nason, R., Van Coillie, J., Karlsson, R., Sun, L., Ye, Z., Chen, Y-H., Schjoldager, K. T., Steentoft, C., Furukawa, S., Bensing, B. A., Sullam, P. M., Thompson, A. J., Paulson, J. C., Büll, C., Adema, G. J., Mandel, U., Hansen, L., Bennett, E. P., & 4 flereVarki, A., Vakhrushev, S. Y., Yang, Z. & Clausen, H., 25 jul. 2019, I: Molecular Cell. 75, 2, s. 394-407, e1-e5

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  • Atlases 100%
  • Glycosylation 95%
  • Polysaccharides 87%
  • Genes 37%
  • Glycosyltransferases 12%
  50 Citationer (Scopus)

• A splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family

  Eiberg, H., Mikkelsen, A. F., Bak, M., Tommerup, N., Lund, A. M., Wenzel, A., Sabarinathan, R., Gorodkin, J., Bang-Berthelsen, C. H. & Hansen, L., 2019, I: Molecular Vision. 25, s. 1-11 11 s.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  • Long Noncoding RNA 100%
  • Cataract 86%
  • Mutation 44%
  • Genes 37%
  • Polymerase Chain Reaction 23%
  2 Downloads (Pure)

• A validated collection of mouse monoclonal antibodies to human glycosyltransferases functioning in mucin-type O-glycosylation.

  Steentoft, C., Yang, Z., Wang, S., Ju, T., Vester-Christensen, M. B. & Hansen, L., 1 sep. 2019, I: Glycobiology. 29, s. 645–656 11 s.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  3 Citationer (Scopus)

• Erratum: Site-specific O-glycosylation of members of the low-density lipoprotein receptor superfamily enhances ligand interactions (Journal of Biological Chemistry (2018) 293 (7408-7422) DOI: 10.1074/jbc.M117.817981)

  Wang, S., Mao, Y., Narimatsu, Y., Ye, Z., Tian, W., Goth, C. K., Lira-Navarrete, E., Pedersen, N. B., Benito-Vicente, A., Martin, C., Uribe, K. B., Hurtado-Guerrero, R., Christoffersen, C., Seidah, N. G., Nielsen, R., Christensen, E. I., Hansen, L., Bennett, E. P., Vakhrushev, S. Y., Schjoldager, K. T., & 1 flereClausen, H., 24 maj 2019, I: Journal of Biological Chemistry. 294, 21, 1 s.

  Publikation: Bidrag til tidsskrift › Kommentar/debat › Forskning › peer review

  • Low-Density Lipoprotein 100%
  • LDL Receptors 99%
  • Glycosylation 88%
  • oxidized low density lipoprotein 86%
  • Ligands 60%
  2 Citationer (Scopus)

• The glycosylation design space for recombinant lysosomal replacement enzymes produced in CHO cells

  Tian, W., Ye, Z., Wang, S., Schulz, M. A., Van Coillie, J., Sun, L., Chen, Y-H., Narimatsu, Y., Hansen, L., Kristensen, C., Mandel, U., Bennett, E. P., Jabbarzadeh-Tabrizi, S., Schiffmann, R., Shen, J-S., Vakhrushev, S. Y., Clausen, H. & Yang, Z., 1 dec. 2019, I: Nature Communications. 10, 13 s., 1785.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  • CHO Cells 100%
  • enzymes 88%
  • Glycosylation 85%
  • Polysaccharides 65%
  • Enzymes 45%
  21 Citationer (Scopus)

  10 Downloads (Pure)
• 2018

  A validated gRNA library for CRISPR/Cas9 targeting of the human glycosyltransferase genome

  Narimatsu, Y., Joshi, H. J., Zhang, Y., Gomes, C., Chen, Y-H., Lorenzetti, F., Furukawa, S., Schjoldager, K., Hansen, L., Clausen, H., Bennett, E. P. & Wandall, H. H., 1 maj 2018, I: Glycobiology. 28, 5, s. 295–305

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  • Guide RNA 100%
  • Glycosyltransferases 96%
  • Clustered Regularly Interspaced Short Palindromic Repeats 82%
  • Human Genome 75%
  • Polysaccharides 67%
  29 Citationer (Scopus)

• De novo expression of human polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) in colon adenocarcinoma inhibits the differentiation of colonic epithelium

  Lavrsen, K., Dabelsteen, S., Vakhrushev, S. Y., Levann, A. M. R., Haue, A. D., Dylander, A., Mandel, U., Hansen, L., Frödin, M., Bennett, E. P. & Wandall, H. H., 26 jan. 2018, I: The Journal of Biological Chemistry. 293, s. 1298-1314

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  • UDP-N-acetylgalactosamine polypeptide N-acetylgalactosaminyltransferase 6 100%
  • polypeptide N-acetylgalactosaminyltransferase 76%
  • Oncogenic Transformation 42%
  • Polypeptide 37%
  • Colon 36%
  32 Citationer (Scopus)

• Glycosyltransferase genes that cause monogenic congenital disorders of glycosylation are distinct from glycosyltransferase genes associated with complex diseases

  Joshi, H. J., Hansen, L., Narimatsu, Y., Freeze, H. H., Henrissat, B., Bennett, E., Wandall, H. H., Clausen, H. & Schjoldager, K. T., 1 maj 2018, I: Glycobiology. 28, 5, s. 284-294

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  • Congenital Disorders of Glycosylation 100%
  • Glycosyltransferases 86%
  • Genome-Wide Association Study 67%
  • Glycosylation 63%
  • Disorder 55%
  20 Citationer (Scopus)

• Site-specific O-glycosylation of members of the low-density lipoprotein receptor superfamily enhances ligand interactions

  Wang, S., Mao, Y., Narimatsu, Y., Ye, Z., Tian, W., Goth, C. K., Lira-Navarrete, E., Pedersen, N. B., Benito-Vicente, A., Martin, C., Uribe, K. B., Hurtado-Guerrero, R., Christoffersen, C., Seidah, N. G., Nielsen, R., Christensen, E. I., Hansen, L., Bennett, E. P., Vakhrushev, S. Y., Schjoldager, K. T., & 1 flereClausen, H., 11 maj 2018, I: The Journal of Biological Chemistry. 293, 19, s. 7408 –7422

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  • Low-Density Lipoprotein 100%
  • LDL Receptors 99%
  • Glycosylation 88%
  • Ligands 60%
  • LDL-Receptor Related Proteins 48%
  30 Citationer (Scopus)
• 2017

  Isoform-specific mucin type O-glycosylation maintain epithelial homeostasis

  I., B., E.M.H., P., K., L., S.Y., V., L., H., H.J., J., E.P., B., S., D. & H.H., W., 2017, I: Glycoconjugate Journal. 34, Suppl. 1, s. S42 1 s., Abstract 78.

  Publikation: Bidrag til tidsskrift › Konferenceabstrakt i tidsskrift › Forskning › peer review

  • UDP-N-acetylgalactosamine polypeptide N-acetylgalactosaminyltransferase 6 100%
  • Mucins 73%
  • Glycosylation 70%
  • O-Glycan 66%
  • polypeptide N-acetylgalactosaminyltransferase 57%

• Precise integration of inducible transcriptional elements (PrIITE) enables absolute control of gene expression

  Pinto, R., Hansen, L., Hintze, J. B. H., Almeida, R., Larsen, S., Coskun, M., Davidsen, J., Mitchelmore, C., David, L., Troelsen, J. T. & Bennett, E. P., 1 jul. 2017, I: Nucleic Acids Research. 45, 13, 15 s., e123.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  • Tetracycline 100%
  • Gene Expression 85%
  • CDX2 Transcription Factor 82%
  • Gene Editing 58%
  • Essential Genes 53%
  12 Citationer (Scopus)

  99 Downloads (Pure)
• 2016

  A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family

  Farooq, M., Fatima, A., Mang, Y., Hansen, L., Kjaer, K. W., Baig, S. M., Larsen, L. A. & Tommerup, N., 1 mar. 2016, I: Journal of Human Genetics. 61, 3, s. 271-273 3 s.

  Publikation: Bidrag til tidsskrift › Kommentar/debat › Forskning › peer review

  9 Citationer (Scopus)

• Loss of Function of GALNT2 Lowers High-Density Lipoproteins in Humans, Nonhuman Primates, and Rodents

  Khetarpal, S. A., Schjoldager, K. T., Christoffersen, C., Raghavan, A., Edmondson, A. C., Reutter, H. M., Ahmed, B., Ouazzani, R., Peloso, G. M., Vitali, C., Zhao, W., Somasundara, A. V. H., Millar, J. S., Park, Y., Fernando, G., Livanov, V., Choi, S., Noé, E., Patel, P., Ho, S. P., & 12 flereKirchgessner, T. G., Wandall, H. H., Hansen, L., Bennett, E. P., Vakhrushev, S. Y., Saleheen, D., Kathiresan, S., Brown, C. D., Abou Jamra, R., LeGuern, E., Clausen, H. & Rader, D. J., 9 aug. 2016, I: Cell Metabolism. 24, 2, s. 234-245 12 s.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  • HDL Lipoproteins 100%
  • Primates 88%
  • HDL Cholesterol 84%
  • Rodentia 78%
  • polypeptide N-acetylgalactosaminyltransferase 63%
  66 Citationer (Scopus)

• Regulation of protein O-glycosylation in epithelial cells - the polypeptide GalNAc-transferases direct cellular differentiation and maintenance of tissue homeostasis

  Pallesen, E. M., Bagdonaite, I., Vakhrushev, S. Y., Hansen, L., Joshi, H. J., Dabelsteen, S. & Wandall, H. H., dec. 2016, I: Glycobiology. 26, 12, s. 1391-1391

  Publikation: Bidrag til tidsskrift › Konferenceabstrakt i tidsskrift › Forskning › peer review
• 2015

  A glycogene mutation map for discovery of diseases of glycosylation

  Hansen, L., Lind-Thomsen, A., Joshi, H. J., Pedersen, N. B., Have, C. T., Kong, Y., Wang, S., Sparso, T., Grarup, N., Vester-Christensen, M. B., Schjoldager, K., Freeze, H. H., Hansen, T., Pedersen, O., Henrissat, B., Mandel, U., Clausen, H., Wandall, H. H. & Bennett, E. P., 1 feb. 2015, I: Glycobiology. 25, 2, s. 211-224 14 s.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  • Congenital Disorders of Glycosylation 100%
  • Glycosylation 88%
  • Glycosyltransferases 86%
  • Isoenzymes 85%
  • Mutation 72%
  31 Citationer (Scopus)

• Fast and sensitive detection of indels induced by precise gene targeting

  Yang, Z., Steentoft, C., Hauge, C., Hansen, L., Thomsen, A. L., Niola, F., Vester-Christensen, M. B., Frödin, M., Clausen, H., Wandall, H. H. & Bennett, E. P., 19 maj 2015, I: Nucleic Acids Research. 43, 9, s. 1-8 8 s., e59.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  • Gene Targeting 100%
  • Gene Editing 78%
  • Capillary Electrophoresis 27%
  • Double-Stranded DNA Breaks 24%
  • DNA 23%
  83 Citationer (Scopus)
• 2014

  Immature truncated O-glycophenotype of cancer directly induces oncogenic features

  Radhakrishnan, P., Dabelsteen, S., Madsen, F. B., Francavilla, C., Kopp, K. L., Steentoft, C., Vakhrushev, S. Y., Olsen, J. V., Hansen, L., Bennett, E. P., Woetmann, A., Yin, G., Chen, L., Song, H., Bak, M., Hlady, R. A., Peters, S. L., Opavsky, R., Thode, C., Qvortrup, K., & 4 flereSchjoldager, K. T-B. G., Clausen, H., Hollingsworth, M. A. & Wandall, H. H., 30 sep. 2014, I: Proceedings of the National Academy of Sciences of the United States of America. 111, 39, s. e4066-e4077 10 s.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  • Polysaccharides 100%
  • Glycosyltransferases 42%
  • Neoplasms 34%
  • Glycosylation 21%
  • Molecular Chaperones 13%
  156 Citationer (Scopus)

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

  Hansen, L., Comyn, S., Mang, Y., Lind-Thomsen, A., Myhre, L., Jean, F., Eiberg, H., Tommerup, N., Rosenberg, T. & Pilgrim, D., 19 feb. 2014, I: European Journal of Human Genetics. 22, 11, s. 1290-1297 8 s.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  • Autosomal Dominant Cataract 100%
  • Myosins 62%
  • Lenses 54%
  • Embryonic Structures 47%
  • human UNC45B protein 37%
  15 Citationer (Scopus)

• UDP-gal: BetaGal beta 1,3-galactosyltransferase polypeptide 6 (B3GALT6)

  Vester-Christensen, M. B., Hansen, L. & Clausen, H., 1 jan. 2014, Handbook of Glycosyltransferases and Related Genes, Second Edition. Springer Japan, Bind 1. s. 101-108 8 s.

  Publikation: Bidrag til bog/antologi/rapport › Bidrag til bog/antologi › Forskning › peer review

  • Galactosyltransferases 100%
  • Uridine Diphosphate 88%
  • Proteoglycans 74%
  • Glycoproteins 58%
  • Peptides 43%

• UDP-gal: BetaGlcNAc Beta 1,3-galactosyltransferase, polypeptide 1,2 (B3GALT1,2)

  Vester-Christensen, M. B., Hansen, L. & Clausen, H., 1 jan. 2014, Handbook of Glycosyltransferases and Related Genes, Second Edition. Springer Japan, Bind 1. s. 73-80 8 s.

  Publikation: Bidrag til bog/antologi/rapport › Bidrag til bog/antologi › Forskning › peer review

  • Galactosyltransferases 100%
  • Uridine Diphosphate 88%
  • Peptides 43%
  • Glycolipids 40%
  • Glycoproteins 29%
• 2013

  Genetic heterogeneity in Pakistani microcephaly families

  Sajid Hussain, M., Bakhtiar, S. M., Farooq, M., Anjum, I., Janzen, E., Reza Toliat, M., Eiberg, H., Kjaer, K. W., Tommerup, N., Noegel, A. A., Nürnberg, P., Baig, S. M. & Hansen, L., maj 2013, I: Clinical Genetics. 83, 5, s. 446-51 6 s.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  • Microcephaly 100%
  • Genetic Heterogeneity 96%
  • Mutation 45%
  • Autosomal Recessive Primary Microcephaly 12%
  • Pakistan 7%
  34 Citationer (Scopus)

• Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability

  Hansen, L., Tawamie, H., Murakami, Y., Mang, Y., ur Rehman, S., Buchert, R., Schaffer, S., Muhammad, S., Bak, M., Nöthen, M. M., Bennett, E. P., Maeda, Y., Aigner, M., Reis, A., Kinoshita, T., Tommerup, N., Baig, S. M. & Abou Jamra, R., 4 apr. 2013, I: American Journal of Human Genetics. 92, 4, s. 575-83 9 s.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  • Glycosylphosphatidylinositols 100%
  • Intellectual Disability 72%
  • Mutation 43%
  • Glycosylphosphatidylinositol deficiency 42%
  • Proteins 28%
  73 Citationer (Scopus)

• Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism

  Grønskov, K., Dooley, C. M., Østergaard, E., Kelsh, R. N., Hansen, L., Levesque, M. P., Vilhelmsen, K., Møllgård, K., Stemple, D. L. & Rosenberg, T., 7 mar. 2013, I: American Journal of Human Genetics. 92, 3, s. 415-21 7 s.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  • Albinism 100%
  • Melanocytes 74%
  • Mutation 36%
  • Nonsense Codon 29%
  • Denmark 27%
  64 Citationer (Scopus)
• 2012

  Author response: Nonspecific PCR amplification of CRYBB2-pseudogene leads to misconception of natural variation as mutation

  Hansen, L. & Rosenberg, T., 1 sep. 2012, I: Investigative Ophthalmology and Visual Science. 53, 10, 1 s.

  Publikation: Bidrag til tidsskrift › Letter › peer review

  2 Citationer (Scopus)

• Genetic studies in congenital anterior midline cervical cleft

  Jakobsen, L. P., Pfeiffer, P., Andersen, M., Eiberg, H., Hansen, L., Mang, Y., Bak, M., Møller, R. S., Klitten, L. L. & Tommerup, N., aug. 2012, I: American Journal of Medical Genetics. Part A. 158A, 8, s. 2021-6 6 s.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  • Comparative Genomic Hybridization 100%
  • Genetic Databases 54%
  • Multifactorial Inheritance 51%
  • Exome 50%
  • Whole Exome Sequencing 49%
  8 Citationer (Scopus)

• Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9)

  Eiberg, H., Hansen, L., Korbo, L., Nielsen, I-M., Svenstrup, K., Bech, S., Pinborg, L., Friberg, L., Hjermind, LE., Olsen, O. & Nielsen, J. E., sep. 2012, I: Clinical Genetics. 82, 3, s. 256-63 8 s.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  • Kufor-Rakeb syndrome 100%
  • Mutation 32%
  • Atrophy 20%
  • Inuits 17%
  • Dopamine Plasma Membrane Transport Proteins 14%
  38 Citationer (Scopus)
• 2011

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

  Jakobsen, L. P., Bugge, M., Ullmann, R., Schjerling, C. K., Borup, R., Hansen, L., Eiberg, H. & Tommerup, N., 1 mar. 2011, I: American Journal of Medical Genetics. Part A. 155, 3, s. 652-5 4 s.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  6 Citationer (Scopus)

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

  Rehman, S. U., Baig, S. M., Eiberg, H., Rehman, S. U., Ahmad, I., Malik, N. A., Tommerup, N. & Hansen, L., aug. 2011, I: Neurogenetics. 12, 3, s. 247-51 5 s.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  • Intellectual Disability 100%
  • Single Nucleotide Polymorphism 35%
  • Genetic Loci 25%
  • Cognitive Dysfunction 17%
  • Genes 8%
  2 Citationer (Scopus)

• Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment

  Rendtorff, N. D., Lodahl, M., Boulahbel, H., Johansen, I. R., Pandya, A., Welch, K. O., Norris, V. W., Arnos, K. S., Bitner-Glindzicz, M., Emery, S. B., Mets, M. B., Fagerheim, T., Eriksson, K., Hansen, L., Bruhn, H., Möller, C., Lindholm, S., Ensgaard, S., Lesperance, M. M. & Tranebjaerg, L., jun. 2011, I: American Journal of Medical Genetics. Part A. 155, 6, s. 1298-313 16 s.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  • Autosomal Dominant Optic Atrophy 100%
  • Missense Mutation 64%
  • Hearing Loss 59%
  • Sensorineural Hearing Loss 42%
  • Optic Atrophy 41%
  59 Citationer (Scopus)

• RUNX2 analysis of Danish cleidocranial dysplasia families

  Hansen, L., Riis, A. K., Silahtaroglu, A., Hove, H., Lauridsen, E., Eiberg, H. & Kreiborg, S., mar. 2011, I: Clinical Genetics. 79, 3, s. 254-63 10 s.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  • Cleidocranial Dysplasia 100%
  • Mutation 34%
  • polyalanine 25%
  • polyglutamine 20%
  • Population Biological Variation 18%
  16 Citationer (Scopus)
• 2010

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

  Anjum, I., Eiberg, H., Baig, S. M., Tommerup, N. & Hansen, L., mar. 2010, I: Molecular Vision. 16, s. 549-55 6 s.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  • Congenital primary aphakia 100%
  • Aphakia 55%
  • Mutation 24%
  • Genes 17%
  • Lenses 11%
  19 Citationer (Scopus)

• Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS

  Farooq, M., Troelsen, J. T., Boyd, M., Eiberg, H., Hansen, L., Hussain, M. S., Rehman, S. U., Azhar, A., Ali, A., Bakhtiar, S. M., Tommerup, N., Baig, S. M. & Kjaer, K. W., jun. 2010, I: European Journal of Human Genetics. 18, 6, s. 733-6 3 s.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  • Patterson Stevenson syndrome 100%
  • Point Mutation 49%
  • Hedgehog Proteins 42%
  • Transcription Factors 37%
  • Limb Buds 22%
  39 Citationer (Scopus)
• 2009

  Compound heterozygous ASPM mutations in Pakistani MCPH families

  Muhammad, F., Mahmood Baig, S., Hansen, L., Sajid Hussain, M., Anjum Inayat, I., Aslam, M., Anver Qureshi, J., Toilat, M., Kirst, E., Wajid, M., Nürnberg, P., Eiberg, H., Tommerup, N. & Kjaer, K. W., 2009, I: American Journal of Medical Genetics. Part A. 149A, 5, s. 926-30 4 s.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  • Microcephaly 100%
  • Mutation 45%
  • Autosomal Recessive Primary Microcephaly 18%
  • Ships 13%
  • Frameshift Mutation 12%
  23 Citationer (Scopus)

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

  Hansen, L., Mikkelsen, A., Nürnberg, P., Nürnberg, G., Anjum, I., Eiberg, H. & Rosenberg, T., 2009, I: Investigative Ophthalmology & Visual Science. 50, 7, s. 3291-303 12 s.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  • Cataract 100%
  • Mutation 59%
  • Hereditary Eye Diseases 33%
  • connexin 36 30%
  • Genes 28%
  73 Citationer (Scopus)
• 2008

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

  Medeiros, F. D., Hansen, L., Mawlad, E., Eiberg, H., Asklund, C., Tommerup, N. & Jakobsen, L. P., 2008, I: American Journal of Medical Genetics. Part A. 146A, 12, s. 1605-1608 3 s.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  10 Citationer (Scopus)

• 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.

  Eiberg, H., Troelsen, J., Boyd, M., Mikkelsen, A. F., Mengel-From, J., Kjaer, K. W. & Hansen, L., 2008, I: Human Genetics. 123, 2, s. 177-87 10 s.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  • Oculocutaneous albinism type 2 100%
  • Eye Color 89%
  • Mutation 32%
  • Hair Color 29%
  • Genes 23%
  217 Citationer (Scopus)

• Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2

  Wissinger, B., Dangel, S., Jagle, H., Hansen, L., Baumann, B., Rudolph, G., Wolf, C., Bonin, M., Koeppen, K., Ladewig, T., Kohl, S., Zrenner, E. & Rosenberg, T., 2008, I: Investigative Ophthalmology & Visual Science. 49, 2, s. 751-757 6 s.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  62 Citationer (Scopus)
• 2007

  Genetic heterogeneity in microcornea-cataract: Five novel mutations in CRYAA, CRYGD, and GJA

  Hansen, L., Yao, W. L., Eiberg, H. R. L., Kjær, K. W., Baggesen, K., Hejtmancik, J. F. & Rosenberg, T., 2007, I: Investigative Ophthalmology & Visual Science. 48, 9, s. 3937-3944 7 s.

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  114 Citationer (Scopus)
• 2006

  A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2

  Kjær, K. W., Eiberg, H. R. L., Hansen, L., Hagen, C. B. V. D., Rosendahl, K., Tommerup, N. & Mundlos, S., 2006, I: Journal of Medical Genetics. 43, 3, s. 225-231 6 s.

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  23 Citationer (Scopus)

• Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene

  Eiberg, H. R. L., Hansen, L., Kjer, B., Hansen, T., Pedersen, O., Bille, M., Rosenberg, T. & Tranebjaerg, L., 2006, I: Journal of Medical Genetics. 43, 5, s. 435-440 5 s.

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  79 Citationer (Scopus)

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

  Hansen, L., Yao, W., Eiberg, H., Funding, M., Riise, R., Kjær, K. W., Hejtmancik, J. F. & Rosenberg, T., 2006, I: Molecular Vision. 12, 116, s. 1033-1039 7 s.

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  • Ants 100%
  • Missense Mutation 74%
  • Ovum 74%
  • Cataract 67%
  • Phenotype 43%
  36 Citationer (Scopus)
• 2005

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

  Kjær, K. W., Hansen, L., Eiberg, H., Utkus, A., Skovgaard, L. T., Leicht, P., Opitz, J. M. & Tommerup, N., 2005, I: American Journal of Medical Genetics. Part A. 138, 4, s. 328-39 12 s.

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  • polyalanine 100%
  • Finger Phalanges 61%
  • Metacarpal Bones 49%
  • Genetic Association Studies 42%
  • Alanine 41%
  16 Citationer (Scopus)

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

  Kjaer, K. W., Hansen, L., Eiberg, H., Christensen, K. S., Opitz, J. M. & Tommerup, N., 2005, I: American Journal of Medical Genetics. Part A. 137, 2, s. 148-52 4 s.

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  • Laurin-Sandrow syndrome 100%
  • Retinoic Acid Receptors 61%
  • Exons 39%
  • Introns 30%
  • Nose 25%
  6 Citationer (Scopus)

• Mapping of hereditary trichilemmal cyst (TRICY1) to chromosome 3p24-p21.2 and exclusion of β-Catenin and MLH1

  Eiberg, H., Hansen, L., Hansen, C., Mohr, J., Teglbjærg, P. S. & Kjaer, K. W., 15 feb. 2005, I: American Journal of Medical Genetics. 133 A, 1, s. 44-47 4 s.

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  • Trichilemmal Cyst 1 100%
  • Catenins 59%
  • Cysts 40%
  • Chromosomes 37%
  • Exons 19%
  17 Citationer (Scopus)

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

  Hansen, L., Eiberg, H. R. L., Barrett, T., Bek, T., Kjærsgaard, P., Tranebjærg, L. & Rosenberg, T., 2005, I: European Journal of Human Genetics. 13, 12, s. 1275-1284

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  60 Citationer (Scopus)