Lars Hansen
Lars Hansen
Bekræftet mail på sund.ku.dk
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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
H Eiberg, J Troelsen, M Nielsen, A Mikkelsen, J Mengel-From, KW Kjaer, ...
Human genetics 123 (2), 177-187, 2008
3562008
Immature truncated O-glycophenotype of cancer directly induces oncogenic features
P Radhakrishnan, S Dabelsteen, FB Madsen, C Francavilla, KL Kopp, ...
Proceedings of the National Academy of Sciences 111 (39), E4066-E4075, 2014
1872014
Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8
L Hansen, W Yao, H Eiberg, KW Kjaer, K Baggesen, JF Hejtmancik, ...
Investigative ophthalmology & visual science 48 (9), 3937-3944, 2007
1392007
Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome)
KW Kjaer, L Hansen, GC Schwabe, AP Marques-de-Faria, H Eiberg, ...
Journal of medical genetics 42 (4), 292-298, 2005
1162005
Novel Connexin 43 (GJA1) mutation causes oculo–dento–digital dysplasia with curly hair
KW Kjaer, L Hansen, H Eiberg, P Leicht, JM Opitz, N Tommerup
American Journal of Medical Genetics Part A 127 (2), 152-157, 2004
1052004
Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene
H Eiberg, L Hansen, B Kjer, T Hansen, O Pedersen, M Bille, T Rosenberg, ...
Journal of medical genetics 43 (5), 435-440, 2006
972006
Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism
K Grønskov, CM Dooley, E Østergaard, RN Kelsh, L Hansen, ...
The American Journal of Human Genetics 92 (3), 415-421, 2013
962013
Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability
L Hansen, H Tawamie, Y Murakami, Y Mang, S ur Rehman, R Buchert, ...
The American Journal of Human Genetics 92 (4), 575-583, 2013
902013
Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract
L Hansen, A Mikkelsen, P Nürnberg, G Nürnberg, I Anjum, H Eiberg, ...
Investigative ophthalmology & visual science 50 (7), 3291-3303, 2009
832009
Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2
B Wissinger, S Dangel, H Jägle, L Hansen, B Baumann, G Rudolph, ...
Investigative ophthalmology & visual science 49 (2), 751-757, 2008
722008
Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified
L Hansen, H Eiberg, T Barrett, T Bek, P Kjærsgaard, L Tranebjærg, ...
European journal of human genetics 13 (12), 1275-1284, 2005
722005
Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment
ND Rendtorff, M Lodahl, H Boulahbel, IR Johansen, A Pandya, KO Welch, ...
American journal of medical genetics Part A 155 (6), 1298-1313, 2011
702011
Loss of function of GALNT2 lowers high-density lipoproteins in humans, nonhuman primates, and rodents
SA Khetarpal, KT Schjoldager, C Christoffersen, A Raghavan, ...
Cell metabolism 24 (2), 234-245, 2016
672016
Three cDNA clones for barley leaf acyl carrier proteins I and III
L Hansen
Carlsberg Research Communications 52 (6), 381-392, 1987
521987
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 …
M Farooq, JT Troelsen, M Boyd, H Eiberg, L Hansen, MS Hussain, ...
European Journal of Human Genetics 18 (6), 733-736, 2010
512010
A novel nonsense mutation in PAX9 is associated with marked variability in number of missing teeth
L Hansen, S Kreiborg, H Jarlov, E Niebuhr, H Eiberg
European Journal of Oral Sciences 115 (4), 330-333, 2007
492007
An Atlas of Human Glycosylation Pathways Enables Display of the Human Glycome by Gene Engineered Cells
CH 3. Narimatsu Y, Joshi H, Nason R, Van Coillie J, Karlsson R, Sun L, Ye Z ...
Mol Cell 75, 1-14, 2019
46*2019
The barley genes Acl1 and Acl3 encoding acyl carrier proteins I and III are located on different chromosomes
L Hansen, P von Wettstein-Knowles
Molecular and General Genetics MGG 229 (3), 467-478, 1991
461991
The congenital “ant-egg” cataract phenotype is caused by a missense mutation in connexin46
L Hansen, W Yao, H Eiberg, M Funding, R Riise, KW Kjaer, JF Hejtmancik, ...
Mol Vis 12 (12), 1033-1039, 2006
442006
A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2
KW Kjaer, H Eiberg, L Hansen, CB van der Hagen, K Rosendahl, ...
Journal of medical genetics 43 (3), 225-231, 2006
442006
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Artikler 1–20