Hans Eiberg
Hans Eiberg
Verificeret mail på sund.ku.dk
Citeret af
Citeret af
Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker
LC Tsui, M Buchwald, D Barker, JC Braman, R Knowlton, JW Schumm, ...
Science 230 (4729), 1054-1057, 1985
Localization of cystic fibrosis locus to human chromosome 7cen–q22
BJ Wainwright, PJ Scambler, J Schmidtke, EA Watson, HY Law, M Farrall, ...
Nature 318 (6044), 384-385, 1985
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
Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract
L Bu, Y Jin, Y Shi, R Chu, A Ban, H Eiberg, L Andres, H Jiang, G Zheng, ...
Nature genetics 31 (3), 276-278, 2002
The genetics of enuresis: a review
A von GONTARD, H Schaumburg, E Hollmann, H Eiberg, S RITTIG
The Journal of urology 166 (6), 2438-2443, 2001
A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis
H Witt, M Sahin-Tóth, O Landt, JM Chen, T Kähne, JPH Drenth, Z Kukor, ...
Nature genetics 38 (6), 668-673, 2006
Assignment of dominant inherited nocturnal enuresis (ENUR1) to chromosome 13q
H Eiberg, I Berendt, J Mohr
Nature genetics 10 (3), 354-356, 1995
Cloning of a human UDP-N-acetyl-α-D-galactosamine: polypeptideN-acetylgalactosaminyltransferase that complements other GalNAc-transferases in complete O-glycosylation of the …
EP Bennett, H Hassan, U Mandel, E Mirgorodskaya, P Roepstorff, ...
Journal of Biological Chemistry 273 (46), 30472-30481, 1998
Blood-based biomarkers of age-associated epigenetic changes in human islets associate with insulin secretion and diabetes
K Bacos, L Gillberg, P Volkov, AH Olsson, T Hansen, O Pedersen, ...
Nature communications 7 (1), 11089, 2016
Genomic structure of the human mitochondrial chaperonin genes: HSP60 and HSP10 are localised head to head on chromosome 2 separated by a bidirectional …
JJ Hansen, P Bross, M Westergaard, M Nielsen, H Eiberg, AD Børglum, ...
Human genetics 112, 71-77, 2003
Dominant optic atrophy mapped to chromosome 3q region: II. Clinical and epidemiological aspects
B Kjer, H Eiberg, P Kjer, T Rosenberg
Acta Ophthalmologica Scandinavica 74 (1), 3-7, 1996
Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis
H Eiberg, B Kjer, P Kjer, T Rosenberg
Human molecular genetics 3 (6), 977-980, 1994
Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios
S Besenbacher, S Liu, JMG Izarzugaza, J Grove, K Belling, J Bork-Jensen, ...
Nature communications 6 (1), 5969, 2015
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation
E Gardella, F Becker, RS Møller, J Schubert, JR Lemke, LHG Larsen, ...
Annals of neurology 79 (3), 428-436, 2016
Loss of the retinoblastoma protein-related p130 protein in small cell lung carcinoma
K Helin, K Holm, A Niebuhr, H Eiberg, N Tommerup, S Hougaard, ...
Proceedings of the National Academy of Sciences 94 (13), 6933-6938, 1997
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
Linkage relationships of paraoxonase (PON) with other markers: indication of PON‐cystic fibrosis synteny
H Eiberg, J Mohr, K Schmiegelow, LS Nielsen, R Williamson
Clinical genetics 28 (4), 265-271, 1985
Sequencing and de novo assembly of 150 genomes from Denmark as a population reference
L Maretty, JM Jensen, B Petersen, JA Sibbesen, S Liu, P Villesen, L Skov, ...
Nature 548 (7665), 87-91, 2017
Novel MODY3 mutations in the hepatocyte nuclear factor-1α gene: evidence for a hyperexcitability of pancreatic β-cells to intravenous secretagogues in a glucose-tolerant …
T Hansen, H Eiberg, M Rouard, M Vaxillaire, AM Møller, SK Rasmussen, ...
Diabetes 46 (4), 726-730, 1997
Genetic evidence that HNF-1α–dependent transcriptional control of HNF-4α is essential for human pancreatic β cell function
SK Hansen, M Párrizas, ML Jensen, S Pruhova, J Ek, SF Boj, A Johansen, ...
The Journal of clinical investigation 110 (6), 827-833, 2002
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