Hans Rudolf Lytchoff Eiberg
Associate Professor
Medical Genetics Program
Blegdamsvej 3, 2200 København N.
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Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%
Almind, G. J., Ek, J., Rosenberg, T., Eiberg, Hans Rudolf Lytchoff, Larsen, M., Lucamp, L., Brøndum-Nielsen, K. & Grønskov, K., Aug 2012, In: BMC Medical Genetics. 13, p. 65Research output: Contribution to journal › Journal article › Research › peer-review
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A silent A to G mutation in exon 11 of the medium-chain acyl-CoA dehydrogenase (MCAD) gene
Andresen, B. S., Kølvraa, S., Bross, P., Bolund, L., Curtis, D., Eiberg, Hans Rudolf Lytchoff, Zhang, Z., Kelly, D. P., Strauss, A. W. & Gregersen, N., 1993, In: Human Molecular Genetics. 2, p. 4Research output: Contribution to journal › Journal article › Research › peer-review
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A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family
Anjum, I., Eiberg, Hans Rudolf Lytchoff, Baig, S. M., Tommerup, Niels & Hansen, Lars, Mar 2010, In: Molecular Vision. 16, p. 549-55 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Blood-based biomarkers of age-associated epigenetic changes in human islets associate with insulin secretion and diabetes
Bacos, K., Gillberg, L., Volkov, P., Olsson, A. H., Hansen, Torben, Pedersen, Oluf Borbye, Gjesing, A. M. P., Eiberg, Hans Rudolf Lytchoff, Tuomi, T., Almgren, P., Groop, L., Eliasson, L., Vaag, Allan, Dayeh, T. & Ling, C., 2016, In: Nature Communications. 7, 13 p., 11089.Research output: Contribution to journal › Journal article › Research › peer-review
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Mutation analysis of the Sonic hedgehog promoter and putative enhancer elements in Parkinson's disease patients
Bak, M., Hansen, C., Henriksen, K. F., Hansen, L., Pakkenberg, H., Eiberg, Hans Rudolf Lytchoff & Tommerup, Niels, 2004, In: Brain Research. Vol. 126, p. 207-211Research output: Contribution to journal › Journal article › Research › peer-review
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Paroxysmal Cranial Dyskinesia and Nail-Patella Syndrome Caused by a Novel Variant in the LMX1B Gene
Bech, S., Løkkegaard, Annemette, Nielsen, T. T., Nørremølle, Anne, Grønborg, S., Hasholt, Lis Frydenreich, Steffensen, G. K., Graehn, G., Olesen, J. H., Tommerup, Niels, Mang, Y., Bak, M., Nielsen, Jørgen Erik, Eiberg, Hans Rudolf Lytchoff & Hjermind, L. E., 2020, In: Movement Disorders. 35, 12, p. 2343-2347Research output: Contribution to journal › Journal article › Research › peer-review
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Huntington's disease-like and ataxia syndromes: identification of a family with a de novo SCA17/TBP mutation
Bech, S., Petersen, T., Nørremølle, Anne, Gjedde, Albert, Ehlers, L., Eiberg, Hans Rudolf Lytchoff, Hjermind, L. E., Hasholt, Lis Frydenreich, Lundorf, E. & Nielsen, Jørgen Erik, 2010, In: Parkinsonism & Related Disorders. 16, 1, p. 12-5 3 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Assignment of GUCY1B2, the Gene Coding for the ¿2 Subunit of Human Guanylyl Cyclase to Chromosomal Band 13q14.3 between Markers D13S168 and D13S155
Behrends, S., Kazmierczak, B., Steenpass, A., Knauf, B., Bullerdiek, J., Scholz, H. & Eiberg, Hans Rudolf Lytchoff, 1999, In: Genomics. 55, p. 126-127Research output: Contribution to journal › Journal article › Research › peer-review
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Cloning of a Human UDP-N-Acetyl-a-d-Galactosamine: Polypeptide N-Acetylgalactosaminyltransf. That Complements Other GalNAc-Transf. in Complete O-Glycosylation of the MUC1 Tandem Repeat
Bennett, Eric Paul, Hassan, H. S., Mandel, U., Mirgorodskaya, E., Roepstorff, P., Burchell, J., Taylor-Papadimitriou, J., Hollingsworth, M. A., Merkx, G., Kessel, A. G. V., Eiberg, Hans Rudolf Lytchoff, Steffensen, R. & Clausen, Henrik, 1998, In: Journal of Biological Chemistry. Vol. 273, No. 46, p. 30472-30481Research output: Contribution to journal › Journal article › Research › peer-review
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Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios
Besenbacher, S., Liu, S., Gonzalez-Izarzugaza, J. M., Grove, J., Belling, K. G., Bork-Jensen, J., Huang, S., Als, T. D., Li, S., Yadav, R., Rubio García, A., Lescai, F., Demontis, D., Rao, J., Ye, W., Mailund, T., Møllegaard Friborg, R., Pedersen, C. N. S., Xu, R., Sun, J. & 27 others, , 2015, In: Nature Communications. 6, 9 p., 5969.Research output: Contribution to journal › Journal article › Research › peer-review
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Præklinisk og prænatal diagnostik af familiær adenomatøs polypose
Bisgaard, M. L., Bülow, S., Winther, K., Eiberg, Hans Rudolf Lytchoff, Niebuhr, E. & Mohr, J., 1992, In: Ugeskrift for læger. 154, p. 921-924Research output: Contribution to journal › Journal article › Research › peer-review
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Screening for Y microdeletions in men with testicular cancer and undescended testis
Bor, P., Hindkjaer, J., Kølvraa, S., Rossen, P., von der Maase, H., Jørgensen, T. M., Sørensen, V. T., Eiberg, Hans Rudolf Lytchoff & Ingerslev, H. J., 2006, In: Journal of Assisted Reproduction and Genetics. 23, 1, p. 41-45 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperone system and their disease-causing potential
Bross, P., Li, Z., Hansen, J., Hansen, J. J., Nielsen, M. N., Corydon, T. J., Georgopoulos, C., Ang, D., Lundemose, J. B., Niezen-Koning, K., Eiberg, Hans Rudolf Lytchoff, Yang, H., Kølvraa, S., Bolund, L. & Gregersen, N., 2007, In: Journal of Human Genetics. 52, 1, p. 56-65 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract
Bu, L., Jin, Y., Shi, Y., Chu, R., Ban, A., Eiberg, Hans Rudolf Lytchoff, Andres, L., Jiang, H., Zheng, G., Qian, M., Cui, B., Xia, Y., Liu, J., Hu, L., Zhao, G., Hayden, M. R. & Kong, X., 2002, In: Nature Genetics. vol. 31, p. 276-278Research output: Contribution to journal › Journal article › Research › peer-review
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Heterogeneity of FeNO response to inhaled steroid in asthmatic children
Buchvald, F., Eiberg, Hans Rudolf Lytchoff & Bisgaard, H., 2003, In: Clin. Exp. Allergy. Vol. 33, p. 1735-1740Research output: Contribution to journal › Journal article › Research › peer-review
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Arvelige faktores betydning for gastroschise
Bugge, Merete, Nielsen, I. & Eiberg, Hans Rudolf Lytchoff, 7 Sep 2013.Research output: Contribution to conference › Conference abstract for conference › Communication
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Gastroschise og Omphalocele i Grønland 1989-2015
Bugge, Merete, Drachmann, G., Kern, P., Budtz-Joergensen, Esben, Eiberg, Hans Rudolf Lytchoff, Olsen, B., Tommerup, Niels & Nielsen, I., Jan 2018, In: Nakorsanut. 43, 1, p. 20-22 3 p.Research output: Contribution to journal › Journal article › Research
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Abdominal Wall Defects in Greenland 1989–2015
Bugge, Merete, Drachmann, G., Kern, P., Budtz-Joergensen, Esben, Eiberg, Hans Rudolf Lytchoff, Olsen, B., Tommerup, Niels & Nielsen, I. M., 2017, In: Birth Defects Research. Part A: Clinical and Molecular Teratology. 109, 11, p. 836-842 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Non-disjunction of chromosome
Bugge, Merete, Collins, A., Hertz, J. M., Eiberg, Hans Rudolf Lytchoff, Lundsteen, C., Brandt, C. A., Hansen, C., deLozier, C. D., Lespinasse, J., Tranebjærg, Lisbeth, Hahnemann, J. M. D., Rasmussen, K., Bruun-Petersen, G., Duprez, L., Tommerup, Niels & Petersen, M. B., 2007, In: Human Molecular Genetics. 16, 16, p. 2004-2010 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Structural organization of the human short-chain acyl-CoA dehydrogenase gene
Corydon, M. J., Andresen, B. S., Bross, P., Kjeldsen, M., Andreasen, P. H., Eiberg, Hans Rudolf Lytchoff, Kølvraa, S. & Gregersen, N., 1997, In: Mammalian Genome. 8, p. 922-926Research output: Contribution to journal › Journal article › Research › peer-review
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Identification of novel locus at chromosome 3p12.3-q13.31 for autosomal recessive intellectual disability in a consanguineous family
Dad, S., Østergaard, Elsebet, Wadt, K., Lunding, J., Eiberg, Hans Rudolf Lytchoff & Møller, L., Apr 2014, In: Clinical Genetics. 85, 4, p. 390-392 3 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Intermediate Expansions of a GAA Repeat in the Frataxin Gene are not associated with Type 2 Diabetes or Altered Glucose-Induced ¿-cell function in Danish Caucasians
Dalgaard, L. T., Hansen, T., Urhammer, S. A., Clausen, J. O., Eiberg, Hans Rudolf Lytchoff & Pedersen, Oluf Borbye, 1999, In: Diabetes. 48, p. 914-917Research output: Contribution to journal › Journal article › Research › peer-review
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High brain serotonin levels in migraine between attacks: A 5-HT4 receptor binding PET study
Deen, M., Hansen, H. D., Hougaard, A., Nørgaard, M., Eiberg, Hans Rudolf Lytchoff, Lehel, S., dlt446, dlt446 & Knudsen, Gitte Moos, 2018, In: NeuroImage: Clinical. 18, p. 97-102 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
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High brain serotonin levels in migraine between attacks: A 5-HT4-receptor binding PET study
Deen, M., Hansen, H. D., Hougaard, A., Eiberg, Hans Rudolf Lytchoff, Lehel, S., dlt446, dlt446 & Knudsen, Gitte Moos, 2017, In: Cephalalgia. 37, 1_suppl, p. 66-66 PO-01-023.Research output: Contribution to journal › Conference abstract in journal › Research › peer-review
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Migraine is associated with high brain 5-HT levels as indexed by 5-HT4 receptor binding
Deen, M., Hougaard, Anders, Hansen, H. D., Svarer, C., Eiberg, Hans Rudolf Lytchoff, Lehel, S., Knudsen, Gitte Moos & dlt446, dlt446, 2019, In: Cephalalgia. 39, 4Research output: Contribution to journal › Journal article › Research › peer-review
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The CHEK2 1100delC variant in Swedish colorectal cancer.
Djureinovic, T., Lindblom, A., Dalén, J., Dedorson, S., Edler, D., Hjern, F., Holm, J., Lenander, C., Lindforss, U., Lundqvist, N., Olivecrona, H., Olsson, L., Påhlman, L., Rutegård, J., Smedh, K., Törnqvist, A., Eiberg, Hans Rudolf Lytchoff & Bisgaard, M. L., 2007, In: Anticancer Research. 26, 6C, p. 4885-8 3 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9)
Eiberg, Hans Rudolf Lytchoff, Hansen, Lars, Korbo, L., Nielsen, I., Svenstrup, K., Bech, S., Pinborg, L., Friberg, L., Hjermind, L., Olsen, O. & Nielsen, Jørgen Erik, Nov 2012, In: Clinical Genetics. 82, 3, p. 256-63 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
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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.
Eiberg, Hans Rudolf Lytchoff, Troelsen, J., Boyd, M., Mikkelsen, Annemette Friis, Mengel-From, J., Kjaer, K. W. & Hansen, Lars, 2008, In: Human Genetics. 123, 2, p. 177-87 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Mapping of Hereditary Trichilemmal Cyst (TRICY1) to Chromosome 3p24-p21.2 and Exclusion of β-CATENIN and MLH1
Eiberg, Hans Rudolf Lytchoff, Hansen, Lars, Hansen, C., Mohr, J., Teglbjærg, P. S. & Kjaer, K. W., 15 Feb 2005, In: American Journal of Medical Genetics. 133 A, 1, p. 44-47 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
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A splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family
Eiberg, Hans Rudolf Lytchoff, Mikkelsen, Annemette Friis, Bak, M., Tommerup, Niels, Lund, A. M., Wenzel, Anne, Sabarinathan, R., Gorodkin, Jan, Bang-Berthelsen, C. H. & Hansen, Lars, 2019, In: Molecular Vision. 25, p. 1-11 11 p.Research output: Contribution to journal › Journal article › Research › peer-review
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A family with ulcerative colitis maps to 7p21.1 and comprises a region with regulatory activity for the aryl hydrocarbon receptor gene
Eiberg, Hans Rudolf Lytchoff, Olsson, J. B., Bak, M., Bang-Berthelsen, C. H., Troelsen, J. T. & Hansen, Lars, 2023, In: European Journal of Human Genetics. 31, p. 1440-1446 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Linkage study of complement C6 (C6) on chromosome 5
Eiberg, Hans Rudolf Lytchoff, Mohr, J., Bisgaard, M. L. & Shen, L., 1991, In: Cytogenetic and Genome Research. 58, p. 1895Research output: Contribution to journal › Journal article › Research › peer-review
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Dombrock blood group (DO): assignment to chromosome 12p
Eiberg, Hans Rudolf Lytchoff & Mohr, J., 1996, In: Human Genetics. 98, p. 518-521Research output: Contribution to journal › Journal article › Research › peer-review
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Exclusion mapping of inter-alpha-trypsin inhibitor (ITI)
Eiberg, Hans Rudolf Lytchoff & Mohr, J., 1991, In: Cytogenetic and Genome Research. 58, p. 2099Research output: Contribution to journal › Journal article › Research › peer-review
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Cholestasis Familiaris Groenlandica / Byler-like disease in Greenland - A population study
Eiberg, Hans Rudolf Lytchoff, Nørgaard-Pedersen, B. & Nielsen, I., 2004, In: International Journal of Circumpolar Health. Vol. 63, suppl. 2, p. 189-191Research output: Contribution to journal › Journal article › Research › peer-review
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RFLP typing of a family Marners cataract.
Eiberg, Hans Rudolf Lytchoff, Marner, E., Rosenberg, R. & Mohr, J., 1991, In: Clinical Genetics. 40, p. 102Research output: Contribution to journal › Journal article › Research › peer-review
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Mere om Genetik og høsommerfugle. Ikke Mendelsk arvegang af farven hos orange høsommerfugl Colias croceus Geoffr.
Eiberg, Hans Rudolf Lytchoff, 2017, In: Lepidoptera. 11, 4, p. 124-130 7 p.Research output: Contribution to journal › Journal article › Communication
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Linkage of cholestasis familiaris Groenlandica/Byler-like disease to chromosome 18
Eiberg, Hans Rudolf Lytchoff & Nielsen, I., 2000, In: International Journal of Circumpolar Health. 59, p. 57-62Research output: Contribution to journal › Journal article › Research › peer-review
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Assignment of dominant inherited nocturnal enuresis (ENUR1) to chromosome 13q
Eiberg, Hans Rudolf Lytchoff, Berendt, I. & Mohr, J., 1995, In: Nature Genetics. 10, p. 354-356Research output: Contribution to journal › Journal article › Research › peer-review
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Linkage studies on cholestasis familiaris Groenlandica (CFG) with polymorphic protein and blood group markers
Eiberg, Hans Rudolf Lytchoff & Nielsen, I., 1990, In: Clinical Genetics. 40, p. 103Research output: Contribution to journal › Journal article › Research › peer-review
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Assignment of Genes Coding for Brown Eye Colour (BEY2) and Brown Hair colour (HCL3) on Chromosome 15q
Eiberg, Hans Rudolf Lytchoff & Mohr, J., 1996, In: European Journal of Human Genetics. 4, p. 237-241Research output: Contribution to journal › Journal article › Research › peer-review
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Assignment of Granular Corneal Dystrophy Groenouw Type 1 (CDGG1) to Chromosome 5q
Eiberg, Hans Rudolf Lytchoff, Møller, H. U., Brendt, I. & Mohr, J., 1994, In: European Journal of Human Genetics. 2, p. 132-138Research output: Contribution to journal › Journal article › Research › peer-review
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Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene
Eiberg, Hans Rudolf Lytchoff, Hansen, Lars, Kjer, B., Hansen, T., Pedersen, O., Bille, M., Rosenberg, T. & Tranebjaerg, L., 2006, In: Journal of Medical Genetics. 43, 5, p. 435-440 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Linkage Studies of Cholestasis Familiaris Groenlandica/Byler-like Disease with Polymorphic Protein and Blood Markers
Eiberg, Hans Rudolf Lytchoff & Nielsen, I., 1993, In: Human Heredity. 43, p. 250-256Research output: Contribution to journal › Journal article › Research › peer-review
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Assignment of human plasma methylumbelliferyl-tetra-N-acetylchitotetraoside hydrolase or chitinase to chromosome 1 q by a linkage study
Eiberg, Hans Rudolf Lytchoff & Tandt, W. R. D., 1997, In: Human Genetics. 101, p. 205-207Research output: Contribution to journal › Journal article › Research › peer-review
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Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis
Eiberg, Hans Rudolf Lytchoff, Kjer, B., Kjer, P. & Rosenberg, T., 1994, In: Human Molecular Genetics. Vol 3, No 6, p. 977-980Research output: Contribution to journal › Journal article › Research › peer-review
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Location of Secretor (SE) and Lutheran (LU) on the Long arm of chromosome 19
Eiberg, Hans Rudolf Lytchoff & Mohr, J., 1991, In: Cytogenetic and Genome Research. 58, p. 2019Research output: Contribution to journal › Journal article › Research › peer-review
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Linkage study of a large Danish 4-generation family with urge incontinence and nocturnal enuresis
Eiberg, Hans Rudolf Lytchoff, Shaumburg, H., von Gontard, A. & Rittig, S., 2001, In: J. Urol.. vol. 166, p. 2401-2403Research output: Contribution to journal › Journal article › Research › peer-review
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Suggestion of linkage between manic-depressive illness and the enzyme phosphoglycolate phosphatase (PGP) on chromosome 16p
Eiberg, Hans Rudolf Lytchoff, Ewald, H. & Mors, O., 1993, In: Clinical Genetics. 44, p. 254-257Research output: Contribution to journal › Journal article › Research › peer-review
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Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36
Eiberg, Hans Rudolf Lytchoff, Lund, A. M., Warburg, M. & Rosenberg, T., 1995, In: Human Genetics. 96, p. 33-38Research output: Contribution to journal › Journal article › Research › peer-review
ID: 5291
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Family and population-based studies of variation within the ghrelin receptor locus in relation to measures of obesity
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A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.
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Sequencing and de novo assembly of 150 genomes from Denmark as a population reference
Research output: Contribution to journal › Letter › Research › peer-review
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