Hans Rudolf Lytchoff Eiberg

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

Serotonin 4 Receptor Brain Binding in Major Depressive Disorder and Association With Memory Dysfunction

Koehler-Forsberg, K., Dam, Vibeke Høyrup, Ozenne, Brice Maxime Hugues, Sankar, A., Beliveau, V., Landman, E. B., Larsen, S. V., Poulsen, A. S., Ip, C., Jørgensen, Anders, Meyer, M., Stenbæk, Dea Siggaard, Eiberg, Hans Rudolf Lytchoff, Madsen, J., Svarer, C., Jørgensen, Martin Balslev, Frøkjær, Vibe Gedsø & Knudsen, Gitte Moos, 2023, In: JAMA Psychiatry. 80, 4, p. 296-304 9 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Human leukocyte antigen association with familial steroid-sensitive nephrotic syndrome

Korsgaard, T., Joshi, S., Andersen, R. F., Moeller, K., Seeman, T., Podracká, L., Eiberg, Hans Rudolf Lytchoff & Rittig, S., 2020, In: European Journal of Pediatrics. 179, 9, p. 1481-1486 6 p.

Research output: Contribution to journal › Journal article › Research › peer-review

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. 2343-2347

Research output: Contribution to journal › Journal article › Research › peer-review

RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis

Farooq, M., Lindbæk, L., Krogh, N., Doganli, C., Keller, C., Mönnich, M., Gonçalves, A. B., Sakthivel, S., Mang, Y., Fatima, A., Andersen, V. S., Hussain, M. S., Eiberg, H., Hansen, L., Kjaer, K. W., Gopalakrishnan, J., Pedersen, L. B., Møllgård, K., Nielsen, H., Baig, S. M. & 3 others, Tommerup, Niels, Christensen, Søren Tvorup & Larsen, Lars Allan, 2020, In: Nature Communications. 11, 16 p., 5816.

Research output: Contribution to journal › Journal article › Research › peer-review

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

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, 4

Research output: Contribution to journal › Journal article › Research › peer-review

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

Benchmarking the HLA typing performance of Polysolver and Optitype in 50 Danish parental trios

Matey-Hernandez, M. L., Danish Pan Genome Consortium, D. P. G. C., Brunak, Søren, Izarzugaza, J. M. G., Sørensen, L. M., Petersen, Bent, Sibbesen, Jonas Andreas, Liu, S., Belling, K. G., Have, C. T., Bork-Jensen, J., Sun, J., Hansen, Torben, Krogh, Anders, Sørensen, Thorkild I.A., Pedersen, Oluf Borbye, Wang, J., Eiberg, Hans Rudolf Lytchoff & Kristiansen, Karsten, 2018, In: BMC Bioinformatics. 19, p. 1-12 239.

Research output: Contribution to journal › Journal article › Research › peer-review

Genetic Variations, Exposure to Persistent Organic Pollutants and Breast Cancer Risk: A Greenlandic Case–Control Study

Wielsøe, M., Eiberg, Hans Rudolf Lytchoff, Ghisari, M., Kern, P., Lind, O. & Bonefeld-Jørgensen, E. C., 2018, In: Basic & Clinical Pharmacology & Toxicology. 123, 3, p. 335-346 12 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Genetic insights into fetal growth and measures of glycaemic regulation and adiposity in adulthood: a family-based study

Hollensted, M., Ekstrøm, Claus Thorn, Pedersen, Oluf Borbye, Eiberg, Hans Rudolf Lytchoff, Hansen, Torben & Gjesing, A. P., 2018, In: BMC Medical Genetics. 19, p. 1-9 9 p., 207.

Research output: Contribution to journal › Journal article › Research › peer-review

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

Assembly and analysis of 100 full MHC haplotypes from the Danish population

Jensen, J. M., Villesen, P., Friborg, R. M., Mailund, T., Besenbacher, S., Sørensen, L. M., Petersen, B., Sibbesen, J. A., Liu, S., Skov, L., Belling, K. G., Have, C. T., Izarzugaza, J. M. G., Grosjean, M., Bork-Jensen, J., Grove, J., Als, T. D., Huang, S., Chang, Y., Xu, R. & 39 others, Ye, W., Rao, J., Guo, X., Sun, J., Cao, H., Ye, C., Beusekom, J. V., Espeseth, T., Flindt, E., Halager, A. E., Hellard, S. L., Hultman, C. M., Lescai, F., Li, S., Lund, O., Løngren, P., Matey-Hernandez, M. L., Mors, O., Pedersen, C. N. S., Sicheritz-Pontén, T., Sullivan, P., Syed, A., Westergaard, D., Yadav, R., Li, N., Xu, X., Hansen, Torben, Bolund, L., Krogh, Anders, Sørensen, Thorkild I.A., Pedersen, Oluf Borbye, Gupta, R., Rasmussen, Simon, Børglum, A. D., Wang, J., Eiberg, Hans Rudolf Lytchoff, Kristiansen, Karsten, Brunak, Søren & Schierup, M. H., Sep 2017, In: Genome Research. 27, 9, p. 1597-1607 11 p.

Research output: Contribution to journal › Journal article › Research › peer-review

A Genome-Wide Association Study of IVGTT-Based Measures of First Phase Insulin Secretion Refines the Underlying Physiology of Type 2 Diabetes Variants

Wood, A. R., Jonsson, A., Jackson, A. U., Wang, T-N., van Leewen, N., Palmer, N. D., Kobes, S., Deelen, J., Boquete-Vilarino, L., Paananen, J., Stančáková, A., Boomsma, D. I., de Geus, E. J., Eekhoff, E. M., Fritsche, A., Kramer, M., Nijpels, G., Simonis-Bik, A. M. C., van Haeften, T. W., Mahajan, A. & 31 others, Boehnke, M., Bergman, R. N., Tuomilehto, J., Collins, F. S., Mohlke, K. L., Banasik, Karina, Groves, C. J., McCarthy, M. I., Pearson, E. R., Natali, A., Mari, A., Buchanan, T. A., Taylor, K. D., Xiang, A. H., Gjesing, A. P., Grarup, Niels, Eiberg, Hans Rudolf Lytchoff, Pedersen, Oluf Borbye, Chen, Y., Laakso, M., Norris, J. M., Smith, U., Wagenknecht, L. E., Baier, L., Bowden, D. W., Hansen, Torben, Walker, M., Watanabe, R. M., 't Hart, L. M., Hanson, R. L. & Frayling, T. M., 2017, In: Diabetes. 66, 8, p. 2296-2309

Research output: Contribution to journal › Journal article › Research › peer-review

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

Heredity of supraglottic exercise-induced laryngeal obstruction

Walsted, E. S., Hvedstrup, J., Eiberg, Hans Rudolf Lytchoff & Backer, Vibeke, 2017, In: European Respiratory Journal. 50, 2, 3 p., 1700423.

Research output: Contribution to journal › Comment/debate › Research › peer-review

Heterogeneity in glucose response curves during an oral glucose tolerance test and associated cardiometabolic risk

Hulman, A., Simmons, R. K., Vistisen, D., Tabák, A. G., Dekker, J. M., Alssema, M., Rutters, F., Koopman, A. D. M., Solomon, T. P. J., Kirwan, J. P., Hansen, Torben, Jonsson, Anna Elisabet, Gjesing, A. M. P., Eiberg, Hans Rudolf Lytchoff, Astrup, A., Pedersen, Oluf Borbye, Sørensen, Thorkild I.A., Witte, D. & Færch, K., 2017, In: Endocrine. 55, 2, p. 427-434 8 p.

Research output: Contribution to journal › Journal article › Research › peer-review

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

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

Sequencing and de novo assembly of 150 genomes from Denmark as a population reference

Sørensen, L. M., Jensen, J. M., Petersen, B., Sibbesen, J. A., Liu, S., Villesen, P., Skov, L., Belling, K. G., Have, C. T., Izarzugaza, J. M. G., Grosjean, M., Bork-Jensen, J., Grove, J., Als, T. D., Huang, S., Chang, Y., Xu, R., Ye, W., Rao, J., Guo, X. & 39 others, Sun, J., Cao, H., Ye, C., van Beusekom, J., Espeseth, T., Flindt, E., Friborg, R. M., Halager, A. E., Le Hellard, S., Hultman, C. M., Lescai, F., Li, S., Lund, O., Løngren, P., Mailund, T., Matey-Hernandez, M. L., Mors, O., Pedersen, C. N. S., Sicheritz-Pontén, T., Sullivan, P., Syed, A., Westergaard, David, Yadav, R., Li, N., Xu, X., Hansen, Torben, Krogh, Anders, Bolund, L., Sørensen, Thorkild I.A., Pedersen, Oluf Borbye, Gupta, R., Rasmussen, Simon, Besenbacher, S., Børglum, A. D., Wang, J., Eiberg, Hans Rudolf Lytchoff, Kristiansen, Karsten, Brunak, Søren & Schierup, M. H., 2017, In: Nature. 548, 7665, p. 87-91 5 p.

Research output: Contribution to journal › Letter › Research › peer-review

Genetic Correlation between Body Fat Percentage and Cardiorespiratory Fitness Suggests Common Genetic Etiology

Schnurr, T. M., Gjesing, A. M. P., Sandholt, C. H., Jonsson, Anna Elisabet, Mahendran, Y., Have, C. T., Ekstrøm, Claus Thorn, Bjerregaard, A., Brage, S., Witte, D., Jørgensen, M. E., Aadahl, Mette, Thuesen, B. H., Linneberg, Allan René, Eiberg, Hans Rudolf Lytchoff, Pedersen, Oluf Borbye, Grarup, Niels, Kilpeläinen, Tuomas O. & Hansen, Torben, 15 Nov 2016, In: P L o S One. 11, 11, 14 p., e0166738.

Research output: Contribution to journal › Journal article › Research › peer-review

Familial Steroid Sensitive Nephrotic Syndrome: Linkage data to Chromosome 15 and 6

Joshi, S., Andersen, R. F., Moeller, K., Seeman, T., Podracka, L., Eiberg, Hans Rudolf Lytchoff & Rittig, S., Oct 2016, In: Pediatric Nephrology. 31, 10, p. 1835-1835

Research output: Contribution to journal › Conference abstract in journal › Research › peer-review

PKD or Not PKD: That Is the Question Reply

Gardella, E., Beniczky, S., Moller, R. S., Becker, F., Lemke, J. R., Syrbe, S., Eiberg, Hans Rudolf Lytchoff, Bast, T., Steinhoff, B., Nuernberg, P., Gellert, P., Dahl, H. A., Weckhuysen, S., Heron, S. E., Dibbens, L. M., Hjalgrim, H., Lerche, H. & Weber, Y. G., Jul 2016, In: Annals of Neurology. 80, 1, p. 168-169

Research output: Contribution to journal › Comment/debate › Research › peer-review

Benign Infantile Seizures and Paroxysmal Dyskinesia Caused by an SCN8A Mutation

Gardella, E., Becker, F., Moller, R. S., Schubert, J., Lemke, J. R., Larsen, L. H. G., Eiberg, H., Nothnagel, M., Thiele, H., Altmueller, J., Syrbe, S., Merkenschlager, A., Bast, T., Steinhoff, B., Nuernberg, P., Mang, Y., Moller, L. B., Gellert, P., Heron, S. E., Dibbens, L. M. & 8 others, Weckhuysen, S., Dahl, H. A., Biskup, S., Tommerup, Niels, Hjalgrim, H., Lerche, H., Beniczky, S. & Weber, Y. G., Mar 2016, In: Annals of Neurology. 79, 3, p. 428-436

Research output: Contribution to journal › Journal article › Research › peer-review

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

The analysis of a large Danish family supports the presence of a susceptibility locus for adenoma and colorectal cancer on chromosome 11q24

Rudkjøbing, L. A., Eiberg, Hans Rudolf Lytchoff, Mikkelsen, H. B., Binderup, M. L. M. & Bisgaard, S. M. L., Sep 2015, In: Familial Cancer. 14, 3, p. 393-400 8 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Associations of the Inflammatory Marker YKL-40 with Measures of Obesity and Dyslipidaemia in Individuals at High Risk of Type 2 Diabetes

Thomsen, S. B., Gjesing, A. M. P., Rathcke, C. N., Ekstrøm, Claus Thorn, Eiberg, Hans Rudolf Lytchoff, Hansen, T., Pedersen, Oluf Borbye & drb459, drb459, 21 Jul 2015, In: PLOS ONE. 10, 7, p. 1-10 10 p., e0133672.

Research output: Contribution to journal › Journal article › Research › peer-review

Genetic and phenotypic correlations between surrogate measures of insulin release obtained from OGTT data

Gjesing, A. M. P., Ribel-Madsen, R., Harder, M. N., Eiberg, Hans Rudolf Lytchoff, Grarup, Niels, Jørgensen, T., Ekstrøm, Claus Thorn, Pedersen, Oluf Borbye & Hansen, Torben, May 2015, In: Diabetologia. 58, 5, p. 1006-1012 7 p.

Research output: Contribution to journal › Journal article › Research › peer-review

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, Liu, H., Wang, O., Cheng, X., Flores, D., Rydza, E. K., Rapacki, K., Sørensen, J. D., Chmura, P. J., Westergaard, David, Dworzynski, P., Sørensen, Thorkild I.A., Lund, O., Hansen, Torben, Xu, X., Li, N., Bolund, L., Pedersen, Oluf Borbye, Eiberg, Hans Rudolf Lytchoff, Krogh, Anders, Børglum, A. D., Brunak, Søren, Kristiansen, Karsten, Schierup, M. H., Wang, J., Gupta, R., Villesen, P. & Rasmussen, Simon, 2015, In: Nature Communications. 6, 9 p., 5969.

Research output: Contribution to journal › Journal article › Research › peer-review

Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia

Minocherhomji, S., Hansen, C., Kim, H., Mang, Y., Bak, M., Guldberg, P., Papadopoulos, N., Eiberg, Hans Rudolf Lytchoff, Doh, G. D., Møllgård, Kjeld, Hertz, J. M., Nielsen, Jørgen Erik, Ropers, H., Tümer, Asuman Zeynep, Tommerup, Niels, Kalscheuer, V. M. & Silahtaroglu, Asli, 1 Dec 2014, In: Human Molecular Genetics. 23, 23, p. 6163-6176 14 p.

Research output: Contribution to journal › Journal article › Research › peer-review

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

Hansen, Lars, Comyn, S., Mang, Y., Lind-Thomsen, A., Myhre, L., Jean, F., Eiberg, Hans Rudolf Lytchoff, Tommerup, Niels, Rosenberg, T. & Pilgrim, D., Nov 2014, In: European Journal of Human Genetics. 22, 11, p. 1290-1297 8 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Risk of cancer in relatives of patients with myotonic dystrophy: a population-based cohort study

Lund, M., Diaz, L. J., Gørtz, S., Feenstra, B., Duno, M., Juncker, I., Eiberg, Hans Rudolf Lytchoff, Vissing, John, Wohlfahrt, J. & Melbye, M., Sep 2014, In: European journal of neurology : the official journal of the European Federation of Neurological Societies. 21, 9, p. 1192-1197 6 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Cardiac involvement in myotonic dystrophy: a nationwide cohort study

Lund, M., Diaz, L. J., Ranthe, M. F., Petri, H., Duno, M., Juncker, I., Eiberg, Hans Rudolf Lytchoff, Vissing, John, Bundgaard, H., Wohlfahrt, J. & Melbye, M., 21 Aug 2014, In: European Heart Journal. 35, 32, p. 2158-2164 7 p.

Research output: Contribution to journal › Journal article › Research › peer-review

High heritability and genetic correlation of intravenous glucose- and tolbutamide-induced insulin secretion among non-diabetic family members of type 2 diabetic patients

Gjesing, A. M. P., Hornbak, M., Allin, K. H., Ekstrøm, Claus Thorn, Urhammer, Søren Asger, Eiberg, Hans Rudolf Lytchoff, Pedersen, Oluf Borbye & Hansen, Torben, Jun 2014, In: Diabetologia. 57, 6, p. 1173-1181 9 p.

Research output: Contribution to journal › Journal article › Research › peer-review

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

Polymorphisms in phase I and phase II genes and breast cancer risk and relations to persistent organic pollutant exposure: a case-control study in Inuit women

Ghisari, M., Eiberg, Hans Rudolf Lytchoff, Long, M. & Bonefeld-Jørgensen, E. C., 16 Mar 2014, In: Environmental Health. 13, 1, p. 1-14 14 p., 19.

Research output: Contribution to journal › Journal article › Research › peer-review

Genetic heterogeneity in Pakistani microcephaly families

Sajid Hussain, M., Bakhtiar, S. M., Farooq, M., Anjum, I., Janzen, E., Reza Toliat, M., Eiberg, Hans Rudolf Lytchoff, Kjaer, K. W., Tommerup, Niels, Noegel, A. A., Nürnberg, P., Baig, S. M. & Hansen, Lars, May 2013, In: Clinical Genetics. 83, 5, p. 446-51 6 p.

Research output: Contribution to journal › Journal article › Research › peer-review

High heritability and genetic correlation of intravenous glucose- and tolbutamide-induced insulin secretion

Jonsson, Anna Elisabet, Hornbak, M., Gjesing, A. P., Allin, K. H., Ekstrøm, Claus Thorn, Eiberg, Hans Rudolf Lytchoff, Pedersen, O. & Hansen, T., 2013, In: Diabetologia. 56, 1, Supplement, p. S154-S154

Research output: Contribution to journal › Conference abstract in journal › Research › peer-review

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

ATXN2 with intermediate-length CAG/CAA repeats does not seem to be a risk factor in hereditary spastic paraplegia

Nielsen, T. T., Svenstrup, K., Budtz-Joergensen, Esben, Eiberg, Hans Rudolf Lytchoff, Hasholt, Lis Frydenreich & Nielsen, Jørgen Erik, Oct 2012, In: Journal of the Neurological Sciences. 321, 1-2, p. 100-2 3 p.

Research output: Contribution to journal › Journal article › Research › peer-review

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. 65

Research output: Contribution to journal › Journal article › Research › peer-review

Genetic studies in congenital anterior midline cervical cleft

Jakobsen, Linda Plovmand, Pfeiffer, P., Andersen, M., Eiberg, Hans Rudolf Lytchoff, Hansen, Lars, Mang, Y., Bak, M., Møller, R. S., Klitten, L. L. & Tommerup, Niels, Aug 2012, In: American Journal of Medical Genetics. Part A. 158A, 8, p. 2021-6 6 p.

Research output: Contribution to journal › Journal article › Research › peer-review

GJB2 (Connexin-26) mutations are not frequent among hearing impaired patients in east Greenland

Homøe, Preben, Koch, A., Rendtorff, N. D., Lodahl, M., Andersen, T., Andersen, S., Eiberg, Hans Rudolf Lytchoff, Nielsen, I. & Tranebjærg, Lisbeth, Jun 2012, In: International Journal of Audiology. 51, 6, p. 433-6 4 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Fasting and oral glucose-stimulated levels of glucose-dependent insulinotropic polypeptide (GIP) and glucagon-like peptide-1 (GLP-1) are highly familial traits

Gjesing, A. M. P., Ekstrøm, Claus Thorn, Eiberg, Hans Rudolf Lytchoff, Urhammer, S. A., Holst, Jens Juul, Pedersen, Oluf Borbye & Hansen, Teis Schjals, 2012, In: Diabetologia. 55, 5, p. 1338-1345 8 p.

Research output: Contribution to journal › Journal article › Research › peer-review

The influence of parental history of diabetes and offspring birthweight on offspring glucose metabolism in adulthood

Lauenborg, J., Jørgensen, M. K., Damm, Peter, Major-Pedersen, A., Eiberg, Hans Rudolf Lytchoff, Urhammer, S., Pedersen, Oluf Borbye & Hansen, Torben, Dec 2011, In: Acta Obstetricia et Gynecologica Scandinavica. 90, 12, p. 1357-1363 7 p.

Research output: Contribution to journal › Journal article › Research › peer-review

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

Jakobsen, Linda Plovmand, Bugge, Merete, Ullmann, R., Schjerling, C. K., Borup, R., Hansen, Lars, Eiberg, Hans Rudolf Lytchoff & Tommerup, Niels, 1 Mar 2011, In: American Journal of Medical Genetics. Part A. 155, 3, p. 652-5 4 p.

Research output: Contribution to journal › Journal article › Research › peer-review

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, Hans Rudolf Lytchoff, Rehman, S. U., Ahmad, I., Malik, N. A., Tommerup, Niels & Hansen, Lars, 2011, In: Neurogenetics. 12, 3, p. 247-51 5 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Differential nongenetic impact of birth weight versus third-trimester growth velocity on glucose metabolism and magnetic resonance imaging abdominal obesity in young healthy twins

Pilgaard, K., Hammershaimb Mosbech, T., Grunnet, Louise Groth, Eiberg, Hans Rudolf Lytchoff, van Hall, Gerrit, Fallentin, E., Larsen, T. K., Larsen, R., Poulsen, P. & Vaag, A., 2011, In: Journal of Clinical Endocrinology and Metabolism. 96, 9, p. 2835-43 9 p.

Research output: Contribution to journal › Journal article › Research › peer-review

RUNX2 analysis of Danish cleidocranial dysplasia families

Hansen, Lars, Riis, A. K., Silahtaroglu, Asli, Hove, H., Lauridsen, E., Eiberg, Hans Rudolf Lytchoff & Kreiborg, Sven, 2011, In: Clinical Genetics. 79, 3, p. 254-63 10 p.

Research output: Contribution to journal › Journal article › Research › peer-review

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, Hans Rudolf Lytchoff, Hansen, Lars, Hussain, M. S., Rehman, S. U., Azhar, A., Ali, A., Bakhtiar, S. M., Tommerup, Niels, Baig, S. M. & Kjaer, K. W., Jun 2010, In: European Journal of Human Genetics. 18, 6, p. 733-6 3 p.

Research output: Contribution to journal › Journal article › Research › peer-review

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

Human eye colour and HERC2, OCA2 and MATP

Mengel-From, J., Børsting, Claus, Sanchez, J. J., Eiberg, Hans Rudolf Lytchoff & Morling, Niels, 12 Jan 2010, In: Forensic Science International: Genetics. 4, 5, p. 323 - 328 6 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Family and population-based studies of variation within the ghrelin receptor locus in relation to measures of obesity

Gjesing, A. P., Larsen, L. H., Torekov, S. S., Hainerová, I. A., Kapur, R., Johansen, A., Albrechtsen, A., Boj, S., Holst, B., Harper, A., Urhammer, S. A., Borch-Johnsen, K., Pisinger, C. H., Echwald, S. M., Eiberg, H. R. L., Astrup, A., Lebl, J., Ferrer, J., Schwartz, T. W., Hansen, T. & 1 others, Pedersen, Oluf Borbye, 2010, In: P L o S One. 5, 4, 8 p.

Research output: Contribution to journal › Journal article › Research › peer-review

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

Prænatal screening for leversygdommen (CFG) og stofskiftesygdommen (PCCB)

Nielsen, I., Bisgaard, S. M. L. & Eiberg, Hans Rudolf Lytchoff, 2010, In: Nakorsanut. 1, p. 12-17 6 p.

Research output: Contribution to journal › Journal article › Research

A high frequent BRCA1 founder mutation identified in the Greenlandic population

Harboe, T. L., Eiberg, Hans Rudolf Lytchoff, Kern, P., Ejlertsen, Bent Laursen, Nedergaard, L., Timmermans-Wielenga, V., Nielsen, I. & Bisgaard, M. L., 2009, In: Familial Cancer. 8, 4, p. 413-9 6 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Compound heterozygous ASPM mutations in Pakistani MCPH families

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

Research output: Contribution to journal › Journal article › Research › peer-review

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

Hansen, Lars, Mikkelsen, Annemette Friis, Nürnberg, P., Nürnberg, G., Anjum, I., Eiberg, Hans Rudolf Lytchoff & Rosenberg, T., 2009, In: Investigative Ophthalmology & Visual Science. 50, 7, p. 3291-303 12 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Polymorphic drug metabolizing CYP-enzymes - a pathogenic factor in oral lichen planus?

Kragelund, C., Hansen, C., Reibel, Jesper, Nauntofte, B., Brøsen, K., Pedersen, Anne Marie Lynge, Smidt, D., Eiberg, Hans Rudolf Lytchoff & Torpet, L. A., 2009, In: Journal of Oral Pathology & Medicine. 38, 1, p. 63-71 9 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia

Svenstrup, K., Bross, P., Koefoed, P., Hjermind, L. E., Eiberg, H., Born, A. P., Vissing, J., Gyllenborg, J., Nørremølle, A., Hasholt, L., Nielsen, J. E., Svenstrup, K., Bross, P., Koefoed, P., Hjermind, L. E., Eiberg, H., Born, A. P., Vissing, J., Gyllenborg, J., Nørremølle, A. & 2 others, Hasholt, L. & Nielsen, J. E., 2009, In: Journal of the Neurological Sciences. 284, 1-2, p. 90-5 5 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Variants near MC4R associate with obesity and influence obesity-related quantitative traits in a population of middle-aged people: studies of 14,940 Danes

Zobel, D. P., Andreasen, C. H., Grarup, N., Eiberg, Hans Rudolf Lytchoff, Sørensen, Thorkild I.A., Sandbæk, A., Lauritzen, T., Borch-Johnsen, K., Jørgensen, T., Pedersen, Oluf Borbye & Hansen, T., 2009, In: Diabetes. p. 757-764 8 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Variation in the gene encoding Kruppel-like factor 7 influences body fat: studies of 14,818 Danes

Zobel, D., Andreasen, C., Burgdorf, K., Andersson, E., Sandbæk, A., Lauritzen, T., Borch-Johnsen, K., Jørgensen, T., Maeda, S., Nakamura, Y., Eiberg, Hans Rudolf Lytchoff, Pedersen, Oluf Borbye & Hansen, Torben, 2009, In: European Journal of Endocrinology. 160, 4, p. 603-9

Research output: Contribution to journal › Journal article › Research › peer-review

A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.

Gilling, M., Lauritsen, M. B., Møller, Morten, Henriksen, K. F., Vicente, A., Oliveira, G., Cintin, C., Eiberg, Hans Rudolf Lytchoff, Andersen, P. S., Mors, O., Rosenberg, T., Brøndum-Nielsen, K., Cotterill, R. M. J., Lundsteen, C., Ropers, H., Ullmann, R., Bache, Iben, Tümer, Asuman Zeynep & Tommerup, Niels, 2008, In: European Journal of Human Genetics. 16, 3, p. 312-9 7 p.

Research output: Contribution to journal › Journal article › Research › peer-review

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

Medeiros, F. D., Hansen, Lars, Mawlad, E., Eiberg, Hans Rudolf Lytchoff, Asklund, C., Tommerup, Niels & Jakobsen, L. P., 2008, In: American Journal of Medical Genetics. Part A. 146A, 12, p. 1605-1608 3 p.

Research output: Contribution to journal › Journal article › Research › peer-review

A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family

Sanggaard, K. M., Kjær, K. W., Eiberg, Hans Rudolf Lytchoff, Nurnberg, G., Nurnberg, P., Hoffman, K., Jensen, H., Sorum, C., Rendtorff, N. D. & Tranebjærg, Lisbeth, 2008, In: American Journal of Medical Genetics. Part A. 146A, 8, p. 1017-1025 8 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Autosomal inheritance of diabetes in two families characterized by obesity and a novel H241Q mutation in NEUROD1

Gonsorcíková, L., Pruhová, S., Cinek, O., Ek, J., Pelikánová, T., Jørgensen, T., Eiberg, Hans Rudolf Lytchoff, Pedersen, Oluf Borbye, Hansen, T. & Lebl, J., 2008, In: Pediatric Diabetes. 9, 4 Pt 2, p. 367-72 5 p.

Research output: Contribution to journal › Journal article › Research › peer-review

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

Determination of cis/trans phase of variations in the MC1R gene with allele-specific PCR and single base extension

Mengel-From, J., Børsting, Claus, Sanchez, J. J., Eiberg, Hans Rudolf Lytchoff & Morling, Niels, 2008, In: Electrophoresis. 29, 23, p. 4780-7 7 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Hereditary henotypes in nocturnal enuresis

Schaumburg, H. L., Kapilin, U., Blasvaer, C., Eiberg, Hans Rudolf Lytchoff, Gontard, A. V., Djurhuus, J. C. & Rittig, S., 2008, In: BJU International. 102, 7, p. 816-821 5 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Novel de novo BRCA2 mutation in a patient with a family history of breast cancer.

Hansen, T. V. O., Bisgaard, M. L., Jønson, L., Albrechtsen, Anders, Filtenborg-Barnkob, B., Eiberg, Hans Rudolf Lytchoff, Ejlertsen, B. & Nielsen, Finn Cilius, 2008, In: BMC Medical Genetics. 9, p. 58

Research output: Contribution to journal › Journal article › Research › peer-review

A novel nonsense mutation in PAX9 is associated with marked variability in number of missing teeth

Hansen, L., Kreiborg, Sven, Jarlov, H., Niebuhr, E. & Eiberg, Hans Rudolf Lytchoff, 2007, In: European Journal of Oral Sciences. 115, 4, p. 330-333 3 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses

Sanggaard, K. M., Rendtorff, N. D., Kjær, K. W., Eiberg, Hans Rudolf Lytchoff, Johnsen, T., Gimsing, S., Dyrmose, J., Nielsen, K. O., Lage, K. & Tranebjærg, Lisbeth, 2007, In: European Journal of Human Genetics. 15, 11, p. 1121-1131 10 p.

Research output: Contribution to journal › Journal article › Research › peer-review

CHEK2 1100delC is prevalent in Swedish early onset familial breast cancer.

Margolin, S., Eiberg, Hans Rudolf Lytchoff, Lindblom, A. & Bisgaard, M. L., 2007, In: BMC Cancer. 7, p. 163

Research output: Contribution to journal › Journal article › Research › peer-review

Deficiency of mannan-binding lectin associated serine protease-2 due to missense polymorphisms

Thiel, S., Steffensen, R., Christensen, I. J., Ip, W. K., Lau, Y. L., Reason, I. J. M., Eiberg, Hans Rudolf Lytchoff, Gadjeva, M., Ruseva, M. & Jensenius, J. C., 2007, In: Genes and Immunity. 8, 2, p. 154-163 9 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Fra forskning til forebyggelse i Grønland. Grønlandsmedicinsk Selskab

Nielsen, I. M., Kern, P. & Eiberg, Hans Rudolf Lytchoff, 2007, In: Ugeskrift for læger. 169, 12, p. 1105-

Research output: Contribution to journal › Journal article › Research › peer-review

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

Hansen, Lars, Yao, W. L., Eiberg, Hans Rudolf Lytchoff, Kjær, K. W., Baggesen, K., Hejtmancik, J. F. & Rosenberg, T., 2007, In: Investigative Ophthalmology & Visual Science. 48, 9, p. 3937-3944 7 p.

Research output: Contribution to journal › Journal article › Research › peer-review

LOH at chromosome 9q34.3 and the Notch1 gene methylation are less involved in oral squamous cell carcinomas

Gao, S., Krogdahl, A., Eiberg, Hans Rudolf Lytchoff, Liu, C. J. & Sørensen, J. A., 2007, In: Journal of Oral Pathology & Medicine. 36, 3, p. 173-176 3 p.

Research output: Contribution to journal › Journal article › Research › peer-review

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

Novel MAF mutation in a family with congenital cataract-microcornea syndrome

Hansen, L., Eiberg, Hans Rudolf Lytchoff & Rosenberg, T., 2007, In: Molecular Vision. 13, 223-27, p. 2019-2022 3 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young

Ellard, S., Thomas, K., Edghill, E. L., Owens, M., Ambye, L., Cropper, J., Little, J., Strachan, M., Stride, A., Ersoy, B., Pedersen, O., Shepherd, M. H., Hansen, T., Harries, L. W., Hattersley, A. T. & Eiberg, Hans Rudolf Lytchoff, 2007, In: Diabetologia. 50, 11, p. 2313-2317 4 p.

Research output: Contribution to journal › Journal article › Research › peer-review

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

Suggestive linkage to a neighboring region of IRF6 in a cleft lip and palate multiplex family

Jakobsen, L. P., Ullmann, R., Kjær, K. W., Knudsen, M. A., Tommerup, Niels & Eiberg, Hans Rudolf Lytchoff, 2007, In: American Journal of Medical Genetics. Part A. 143A, 22, p. 2716-2721 5 p.

Research output: Contribution to journal › Journal article › Research › peer-review

The ADULT-EEC spectrum: An R280C mutation with a borderline phenotype

Kier-Swiatecka, E., Kock, M., Marker, P., Eiberg, Hans Rudolf Lytchoff & Kjær, K. W., 2007, In: American Journal of Medical Genetics. Part A. 143A, 8, p. 891-894 3 p.

Research output: Contribution to journal › Journal article › Research › peer-review

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

The functional Pro129Thr variant of the FAAH gene is not associated with various fat accumulation phenotypes in a population-based cohort of 5,801 whites

Jensen, D. P., Lepola, Mette Andersen, Hansen, L., Eiberg, Hans Rudolf Lytchoff, Borch-Johnsen, K., Jørgensen, T., Hansen, Torben, Pedersen, Oluf Borbye & Andreasen, C. H., 2007, In: Journal of Molecular Medicine. 85, 5, p. 445-9 5 p.

Research output: Contribution to journal › Journal article › Research › peer-review

A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis

Witt, H., Sahin-Toth, M., Landt, O., Chen, J. M., Kahne, T., Drenth, J. P. H., Kukor, Z., Szepessy, E., Halangk, W., Dahm, S., Rohde, K., Schulz, H. U., Marechal, C. L., Akar, N., Ammann, R. W., Truninger, K., Bargetzi, M., Bhatia, E., Castellani, C., Cavestro, G. M. & 45 others, Cerny, M., Destro-Bisol, G., Spedini, G., Jansen, J. B. M. J., Koudova, M., Rausova, E., Macek, M., Malats, N., Real, F. X., Menzel, H. J., Moral, P., Galavotti, R., Pignatti, P. F., Rickards, O., Spicak, J., Zarnescu, N. O., Bock, W., Gress, T. M., Friess, H., Ockenga, J., Schmidt, H., Pfutzer, R., Lohr, M., Simon, P., Weiss, F. U., Lerch, M. M., Teich, N., Keim, V., Berg, T., Wiedenmann, B., Luck, W., Groneberg, D. A., Becker, M., Keil, T., Kage, A., Bernardova, J., Braun, M., Guldner, C., Halangk, J., Rosendahl, J., Witt, U., Treiber, M., Nickel, R., Ferec, C. & Eiberg, Hans Rudolf Lytchoff, 2006, In: Nature Genetics. 38, 6, p. 668-673 5 p.

Research output: Contribution to journal › Journal article › Research › peer-review

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

Kjær, K. W., Eiberg, Hans Rudolf Lytchoff, Hansen, Lars, Hagen, C. B. V. D., Rosendahl, K., Tommerup, Niels & Mundlos, S., 2006, In: Journal of Medical Genetics. 43, 3, p. 225-231 6 p.

Research output: Contribution to journal › Journal article › Research › peer-review

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

Heat-shock protein 70 genes and human longevity: a view from Denmark

Singh, R., Kolvraa, S., Bross, P., Christensen, K., Gregersen, N., Tan, Q., Jensen, U. B., Eiberg, Hans Rudolf Lytchoff & Rattan, S. I., 2006, In: Annals of the New York Academy of Sciences. 1067, p. 301-308 7 p.

Research output: Contribution to journal › Journal article › Research › peer-review

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

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

Hansen, Lars, Yao, W., Eiberg, Hans Rudolf Lytchoff, Funding, M., Riise, R., Kjær, K. W., Hejtmancik, J. F. & Rosenberg, T., 2006, In: Molecular Vision. 12, 116, p. 1033-1039 7 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Variation in CAPN10 in relation to type 2 diabetes, obesity and quantitative metabolic traits: studies in 6018 whites

Jensen, D. P., Urhammer, S. A., Eiberg, Hans Rudolf Lytchoff, Borch-Johnsen, K., Jørgensen, T., Hansen, Torben & Pedersen, Oluf Borbye, 2006, In: Molecular Genetics and Metabolism. 89, 4, p. 360-7 8 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Variation in CAPN10 in relation to type 2 diabetes, obesity and quantitative metabolic traits: Studies in 6018 whites

Jensen, D. P., Urhammer, S. A., Eiberg, Hans Rudolf Lytchoff, Borch-Johnsen, K., Jorgensen, T., Hansen, T. & Pedersen, O., 2006, In: Molecular Genetics and Metabolism. 89, 4, p. 360-367 7 p.

Research output: Contribution to journal › Journal article › Research › peer-review

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

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

Kjær, K. W., Hansen, Lars, Eiberg, Hans Rudolf Lytchoff, Utkus, A., Skovgaard, Lene Theil, Leicht, P., Opitz, J. M. & Tommerup, Niels, 2005, In: American Journal of Medical Genetics. Part A. 138, 4, p. 328-39 12 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Cytoplasmic expression of E-cadherin and β-Catenin correlated with LOH and hypermethylation of the APC gene in oral squamous cell carcinomas

Gao, S., Eiberg, Hans Rudolf Lytchoff, Krogdahl, A., Lui, C. & Sørensen, J. A., 2005, In: J. Oral. Pathol. Med.. Vol. 34, p. 116-119

Research output: Contribution to journal › Journal article › Research › peer-review

Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome)

Kjær, K. W., Hansen, L., Schwabe, G. C., Marques-de-Faria, A. P., Eiberg, Hans Rudolf Lytchoff, Mundlos, S., Tommerup, Niels & Rosenberg, T., 2005, In: Journal of Medical Genetics. Vol. 42, p. 292-298

Research output: Contribution to journal › Journal article › Research › peer-review

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

Kjaer, K. W., Hansen, Lars, Eiberg, Hans Rudolf Lytchoff, Christensen, K. S., Opitz, J. M. & Tommerup, Niels, 2005, In: American Journal of Medical Genetics. Part A. 137, 2, p. 148-52 4 p.

Research output: Contribution to journal › Journal article › Research › peer-review

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

Hansen, Lars, Eiberg, Hans Rudolf Lytchoff, Barrett, T., Bek, T., Kjærsgaard, P., Tranebjærg, Lisbeth & Rosenberg, T., 2005, In: European Journal of Human Genetics. 13, 12, p. 1275-1284

Research output: Contribution to journal › Journal article › Research › peer-review

Loss of heterozygosity at 9q33 and hypermethylation of the DBCCR1 gene in oral squamous cell carcinoma

Gao, S., Worm, J., Guldberg, P., Eiberg, Hans Rudolf Lytchoff, Krogdahl, A., Sorensen, Jette Led , Liu, C., Reibel, Jesper & Dabelsteen, Erik, 16 Aug 2004, In: B J C. 91, 4, p. 760-4 5 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Genetic and epigenetic alterations of the blood group ABO gene in oral squamous cell carcinoma

Gao, S., Worm, J., Guldberg, P., Eiberg, Hans Rudolf Lytchoff, Krogdahl, A., Liu, C., Reibel, Jesper & Dabelsteen, Erik, 20 Mar 2004, In: International journal of cancer. Journal international du cancer. 109, 2, p. 230-7 8 p.

Research output: Contribution to journal › Journal article › Research › peer-review

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. 189-191

Research output: Contribution to journal › Journal article › Research › peer-review

Cholestasis Familiaris Groenlandica: an epidemiological, clinical and genetic study

Nielsen, I. M. & Eiberg, Hans Rudolf Lytchoff, 2004, In: International Journal of Circumpolar Health. Vol. 63, suppl. 2, p. 192-194

Research output: Contribution to journal › Journal article › Research › peer-review

Genetic and epigenetic alterations of the blood group ABO gene in oral squamous cell carcinoma

Gao, S., Worm, J., Guldberg, P., Eiberg, Hans Rudolf Lytchoff, Krogdahl, A., Liu, C. J., Reibel, J. & Dabelsteen, Erik, 2004, In: International Journal of Cancer. 109, p. 230-237

Research output: Contribution to journal › Journal article › Research › peer-review

Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation.

Nielsen, Jørgen Erik, Johnson, B., Koefoed, P., Scheuer, K. H., Grønbech-Jensen, M., Law, I., Krabbe, K., Nørremølle, Anne, Eiberg, Hans Rudolf Lytchoff, Søndergård, H., Dam, M., Rehfeld, J. F., Krarup, C., Paulson, Olaf B., Hasholt, Lis Frydenreich & Sørensen, S. A., 2004, In: European Journal of Neurology. 11, 12, p. 817-824 8 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Loss of heterozygosity at 9q33 and hypermethylation of the DBCCRI gene in oral squamous cell carcinoma

Gao, S., Worm, J., Guldberg, P., Eiberg, Hans Rudolf Lytchoff, Krogdahl, A., Sørensen, J. A., Liu, C. J., Reibel, J. & Dabelsteen, E., 2004, In: British Journal of Cancer. Vol. 1-5, p. 10.1038/sj.bjc.6601980 - web

Research output: Contribution to journal › Journal article › Research › peer-review

Mosaicism of the CAG repeat sequence in the Huntington disease gene in a pair of monozygotic twins

Nørremølle, Anne, Hasholt, Lis Frydenreich, Petersen, C. B., Eiberg, Hans Rudolf Lytchoff, Hasselbalch, S. G., Gideon, P., Nielsen, J. E. & Sørensen, S. A., 2004, In: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics. Vol. 130, p. 154-159

Research output: Contribution to journal › Journal article › Research › peer-review

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. 207-211

Research output: Contribution to journal › Journal article › Research › peer-review

Novel Connexin 43(GJA1) mutation causes oculo-dento-digital dysplasia with curly hair

Kjær, K. W., Hansen, L., Eiberg, Hans Rudolf Lytchoff, Leicht, P., Opitz, J. M. & Tommerup, Niels, 2004, In: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics. Vol. 127A, p. 152-157

Research output: Contribution to journal › Journal article › Research › peer-review

A novel mutation in the <epsilon>sarcoglycan gene causing myoclonus-Dystonia syndrome

Hjermind, L. E., Werdelin, L. M., Eiberg, Hans Rudolf Lytchoff, Kragh, O. B., Dupont, E. & Sørensen, S. A., 2003, In: Neurology. Vol. 60, p. 1536-1539

Research output: Contribution to journal › Journal article › Research › peer-review

Frequency of the HFE C282Y and H63D mutations in Danish patients with clinical haemochromatosis initially diagnosed by phenotypic methods

Milman, N., Koefoed, P., Pedersen, P., Nielsen, Finn Cilius & Eiberg, Hans Rudolf Lytchoff, 2003, In: European Journal of Haematology. 71, 6, p. 403-7 4 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Genomic structure of the human mitochondrial chaperonin genes: HSP60 and HSP10 are localised head to head on chromosome 2 seperated by a bidirectional promoter

Hansen, J. J., Broos, P., Westergaard, M., Nielsen, M. N., Eiberg, Hans Rudolf Lytchoff, Børglum, A. D., Mogensen, J., Kristiansen, K., Bolund, L. & Gregersen, N., 2003, In: Hum. Genet.. Vol. 112, p. 71-77

Research output: Contribution to journal › Journal article › Research › peer-review

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. 1735-1740

Research output: Contribution to journal › Journal article › Research › peer-review

Mutational analysis of the human FATE gene in 144 infertile men

Olesen, C., Silber, J., Eiberg, Hans Rudolf Lytchoff, Ernst, E., Petersen, K., Lindenberg, S. & Tommerup, Niels, 2003, In: Hum. Genet.. Vol. 113, p. 195-201

Research output: Contribution to journal › Journal article › Research › peer-review

A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy

Thiselton, D. L., Alexander, C., Taanman, J. W., Brooks, S., Rosenberg, T., Eiberg, Hans Rudolf Lytchoff, Andreasson, S., Van Regemorter, N., Munier, F. L., Moore, A. T., Bhattacharya, S. S. & Votruba, M., 2002, In: Invest. Ophthalmol. Vis. Sci.. Vol. 43, p. 1715-1724

Research output: Contribution to journal › Journal article › Research › peer-review

Genetic evidence that HNF-1α-dependent transcriptional control of HNF-4α is essential for human pancreatic β cell function

Hansen, S. K., Párrizas, M., Jensen, M. L., Pruhova, S., Ek, J., Boj, S. F., Johansen, A., Maestro, M. A., Rivera, F., Eiberg, Hans Rudolf Lytchoff, Andel, M., Lebl, J., Pedersen, O., Ferrer, J. & Hansen, T., 2002, In: The Journal of Clinical Investigation. vol. 110, p. 827-833

Research output: Contribution to journal › Journal article › Research › peer-review

Genetic evidence that HNF-1alpha-dependent transcriptional control of HNF-4alpha is essential for human pancreatic beta cell function

Hansen, S. K., Párrizas, M., Jensen, M. L., Pruhova, S., Ek, J., Boj, S. F., Johansen, A., Maestro, M. A., Rivera, F., Eiberg, Hans Rudolf Lytchoff, Andel, M., Lebl, J., Pedersen, Oluf Borbye, Ferrer, J. & Hansen, Torben, 2002, In: Journal of Clinical Investigation. 110, 6, p. 827-33 7 p.

Research output: Contribution to journal › Journal article › Research › peer-review

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. 276-278

Research output: Contribution to journal › Journal article › Research › peer-review

A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect

Thiselton, D. L., Alexander, C., Morris, A., Brooks, S., Rosenberg, T., Eiberg, Hans Rudolf Lytchoff, Kjer, B., Bhattacharya, S. S. & Votruba, M., 2001, In: Hum. Genet.. vol. 109, p. 498-502

Research output: Contribution to journal › Journal article › Research › peer-review

Genetic linkage of autosomal dominant primary open angle glaucoma to chromosome 3q in a Greek pedigree

Kitsos, G., Eiberg, Hans Rudolf Lytchoff, Economou-Petersen, E., Wirtz, M. K., Kramer, P. L., Aspiotis, M., Tommerup, Niels, Petersen, M. B. & Psilas, K., 2001, In: European Journal of Human Genetics. 9, 6, p. 452-457

Research output: Contribution to journal › Journal article › Research › peer-review

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. 2401-2403

Research output: Contribution to journal › Journal article › Research › peer-review

The genetics of enuresis: a review

von Gontard, A., Schaumburg, H., Hollmann, E., Eiberg, Hans Rudolf Lytchoff & Rittig, S., 2001, In: J. Urol.. vol. 166, p. 2438-2443

Research output: Contribution to journal › Journal article › Research › peer-review

A missense mutation in F1C1 is associated with Greenland familial cholestasis

Klomp, L. W. J., Bull, L. N., Knisely, A. S., van der Doelen, M. A. M., Juijn, J. A., Berger, R., Forget, S., Nielsen, I., Eiberg, Hans Rudolf Lytchoff & Houwen, R. H. J., 2000, In: Hepatology. Vol.32, p. 1337-1341

Research output: Contribution to journal › Journal article › Research › peer-review

Epidermolysis bullosa simplex: Korrelation mellem genotype og fænotype hos danske patienter.

Sørensen, C. B., Ladekjær-Mikkelsen, A., Andresen, B. S., Brandrup, F., Veien, N. K., Buus, S. K., Anton-Lamprecht, I., Kruse, T. A., Jensen, P. K. A., Eiberg, Hans Rudolf Lytchoff, Bolund, L. & Gregersen, N., 2000, In: Ugeskrift for læger. 162/13, p. 1873-1876

Research output: Contribution to journal › Journal article › Research › peer-review

Full-field ERG in patients with Batten/Spielmeyer-Vogt disease caused by mutations in the CLN3 gene

Eksandh, L., Ponjavic, V., Munroe, P. B., Eiberg, Hans Rudolf Lytchoff, Uvebrant, P., Ehinger, B., Mole, S. E. & Andréasson, S., 2000, In: Ophthalmic Genetics. 71,2 pp., p. 69-77

Research output: Contribution to journal › Journal article › Research › peer-review

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. 57-62

Research output: Contribution to journal › Journal article › Research › peer-review

Missense mutations in the human insulin promoter factor-1 gene and their relation to maturity-onset diabetes of the young and late-onset type 2 diabetes mellitus in caucasians

Hansen, L., Urioste, S., Petersen, H. V., Jensen, J. N., Eiberg, Hans Rudolf Lytchoff, Barbetti, F., Serup, P., Hansen, T. & Pedersen, O., 2000, In: Journal of Clinical Endocrinology and Metabolism. 85, 3, p. 1323-1326

Research output: Contribution to journal › Journal article › Research › peer-review

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. 126-127

Research output: Contribution to journal › Journal article › Research › peer-review

Hepatocyte nuclear factor-6: Associations between genetic variability and Type II diabetes and between genetic variability and estimates of insulin secretion

Møller, A. M., Ek, J., Durviaux, S. A., Urhammer, S. A., Clausen, J. O., Eiberg, Hans Rudolf Lytchoff, Hansen, T., Rousseau, G. G., Lemaigre, F. P. & Pedersen, O., 1999, In: Diabetologia. 42, p. 1011-1016

Research output: Contribution to journal › Journal article › Research › peer-review

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., Andresen, B. S., Brandrup, F., Veien, N. K., Buus, S. K., Anton-Lamprecht, I., Kruse, T. A., Jensen, P. K. A., Eiberg, Hans Rudolf Lytchoff, Bolund, L. & Gregersen, N., 1999, In: Journal of Investigative Dermatology. 112, p. 184-190

Research output: Contribution to journal › Journal article › Research › peer-review

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. 914-917

Research output: Contribution to journal › Journal article › Research › peer-review

The Ala/Va198 polymorphism of the hepatocyte nuclear factor-1α gene contributes to the interindividual variation in serum C-peptide response during an oral glucose tolerance test: Evidence from studies of 231 glucose- tolerant first degree relatives of type 2 diabetic probands

Urhammer, Søren Asger, Hansen, Torben, Ekstrøm, Claus Thorn, Eiberg, Hans Rudolf Lytchoff & Pedersen, Oluf Borbye, 1 Dec 1998, In: Journal of Clinical Endocrinology and Metabolism. 83, 12, p. 4506-4509 4 p.

Research output: Contribution to journal › Journal article › Research › peer-review

The effect of two frequent amino acid variants of the hepatocyte nuclear factor-1α gene on estimates of the pancreatic β-cell function in Caucasian glucosetolerant first-degree relatives of type 2 diabetic patients

Urhammer, Søren Asger, Møller, Ann, Nyholm, B., Ekstrøm, Claus Thorn, Eiberg, Hans Rudolf Lytchoff, Clausen, J. O., Hansen, Torben, Pedersen, Oluf Borbye & Schmitz, O., 20 Nov 1998, In: Journal of Clinical Endocrinology and Metabolism. 83, 11, p. 3992-3995 4 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Autosomal dominant pure spastic paraplegia: A clinical, paraclinical and genetic study

Nielsen, J. E., Krabbe, K., Jennum, P., Koefoed, P., Jensen, L. N., Fenger, K., Eiberg, Hans Rudolf Lytchoff, Hasholt, Lis Frydenreich, Werdelin, L. & Sørensen, S. A., 1998, In: Journal of Neurology, Neurosurgery and Psychiatry. 64, p. 61-66

Research output: Contribution to journal › Journal article › Research › peer-review

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. 30472-30481

Research output: Contribution to journal › Journal article › Research › peer-review

Identif. of four new mutations in the short-chain acyl-CoA dehydrog. (SCAD)gene in two pt.: One of the variant alleles, 511C-T, is present at an unexp. high freq. in the generel population,as was the case...

Gregersen, N., Winter, V. S., Corydon, M. J., Corydon, T. J., Rinaldo, P., Ribes, A., Martinez, G., Bennett, M. J., Vianey-Saban, C., Bhala, A., Hale, D. E., Lehnert, W., Kmoch, S., Roig, M., Riudor, E., Eiberg, Hans Rudolf Lytchoff, Andresen, B. S., Bross, P., Bolund, L. A. & Kølvraa, S., 1998, In: Human Molecular Genetics. Vol.7, No.4, p. 619-627

Research output: Contribution to journal › Journal article › Research › peer-review

Mitotic and meiotic instability of the CAG trinucleotide repeat in spinocerebellar ataxia type 1

Koefoed, P., Hasholt, Lis Frydenreich, Fenger, K., Nielsen, J. E., Eiberg, Hans Rudolf Lytchoff, Buschard, K. & Sørensen, S. A., 1998, In: Human Genetics. 103, p. 564-569

Research output: Contribution to journal › Journal article › Research › peer-review

Molecular genetic, clinical and psychiatric associations in nocturnal enuresis

Hollmann, E., Gontard, A. V., Eiberg, Hans Rudolf Lytchoff, Rittig, S. & Lemkuhl, G., 1998, In: British Journal of Urology. 81, suppl. 3, p. 37-39

Research output: Contribution to journal › Journal article › Research › peer-review

Molecular genetics of nocturnal enuresis: Clinical and genetic heterogeneity

Gontard, A. V., Eiberg, Hans Rudolf Lytchoff, Hollmann, E., Rittig, S. & Lehmkuhl, G., 1998, In: Acta Paediatrica. 87, p. 571-578

Research output: Contribution to journal › Journal article › Research › peer-review

The Ala/Val98 Polymorphism of the Hepatocyte Nuclear Factor-1a Gene Contributes to the Interindividual Variation in Serum C-Peptide Response during an Oral Glucose Tolerance Test: Evidence from.....

Urhammer, S. A., Hansen, T., Ekstrøm, C. T., Eiberg, Hans Rudolf Lytchoff & Pedersen, O., 1998, In: Journal of Clinical Endocrinology and Metabolism. Vol. 83, No 12, p. 4506-4509

Research output: Contribution to journal › Journal article › Research › peer-review

The effect of two frequent amino acid variant of the hepatocyte nuclear fact.-1a gene on estimates of pancr.ß-cell funct. in caucasian glucose-tolerant first-degree relatives of tp.2 diabetic ptt.

Urhammer, S. A., Møller, A. M., Nyholm, B., Ekstrøm, C. T., Eiberg, Hans Rudolf Lytchoff, Clausen, J. O., Hansen, T., Pedersen, O. & Schmitz, O., 1998, In: Journal of Clinical Endocrinology and Metabolism. Vol. 83, no. 11, p. 3992-3995

Research output: Contribution to journal › Journal article › Research › peer-review

The g/a Nucleotide Variant at Position -30 in the *Gb-Cell-Specific Glucokinase Gene Promotor Has No Impact on the *Gb-Cell Function in Danish Caucasians

Urhammer, S. A., Hansen, T., Clausen, J. O., Eiberg, Hans Rudolf Lytchoff & Pedersen, O., 1998, In: Diabetes. 47, p. 1359-1361

Research output: Contribution to journal › Journal article › Research › peer-review

Total Genome Scan Analysis in a Single Extended Family for Primary Nocturnal Enuresis: Evidence for a New Locus (ENUR3) for Primary Nocturnal Enuresis on Chromosome 22q11

Eiberg, Hans Rudolf Lytchoff, 1998, In: European Urology. 33 (suppl 3), p. 34-36

Research output: Contribution to journal › Journal article › Research › peer-review

(1997) Clinical enuresis phenotypes in familial nocturnal enuresis

Gontard, A. V., Hollmann, E., Benden, B., Eiberg, Hans Rudolf Lytchoff, Rittig, S. & Lehmkuhl, G., 1997, In: Scandinavian Journal of Urology and Nephrology. 31 (suppl.183), p. 11-16

Research output: Contribution to journal › Journal article › Research › peer-review

A Survey of the Newborn Populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey and Japan for the G985 Variant Allele with Haplotype Analysis at the Medium Chain Acyl-CoA Dehydrogenase Gene. Locus: Clinical and Evol.Con.

Tanaka, K., Gregersen, N., Ribes, A., Kim, J., Kølvraa, S., Winter, V. S., Eiberg, Hans Rudolf Lytchoff, Martinez, G., Deufel, T., Leifert, B., Santer, R., Francois, B., Pronicka, E., Laszlo, A., Kmoch, S., Kremensky, I., Kalaydjicva, L., Ozalp, I. & Ito, M., 1997, In: Pediatric Research. vol 41, 2, p. 201-209

Research output: Contribution to journal › Journal article › Research › peer-review

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. 205-207

Research output: Contribution to journal › Journal article › Research › peer-review

CAG repeat expansion in autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24

Nielsen, J. E., Koefoed, P., Abell, K., Eiberg, Hans Rudolf Lytchoff, Fenger, K., Niebuhr, E. & Sørensen, S. A., 1997, In: Human Molecular Genetics. Vol. 6, No. 11, p. 1811-1816

Research output: Contribution to journal › Journal article › Research › peer-review

Clinical enuresis phenotypes in familial nocturnal enuresis

von Gontard, A., Hollmann, E., Benden, B., Eiberg, Hans Rudolf Lytchoff, Rittig, S. & Lehmkuhl, G., 1997, In: Scandinavian Journal of Urology and Nephrology. 31 (suppl. 183), p. 11-16

Research output: Contribution to journal › Journal article › Research › peer-review

Genetic Heterogeneity in Nocturnal Enuresis

Gontard, A. V., Eiberg, Hans Rudolf Lytchoff, Hollmann, E., Rittig, S. & Lehmkuhl, G., 1997, In: American Journal of Psychiatry. 153, p. 885

Research output: Contribution to journal › Journal article › Research › peer-review

Novel Mody3 Mutations in the Hepatocyte Factor-1a Gene. Evidence for a Hyperexcitabillity of Pancreatic ß-cells to Intravenous Secretagogues in a Glucosetolerant Carrier of a P447L Mutation

Hansen, T., Eiberg, Hans Rudolf Lytchoff, Rouard, M., Vaxillaire, M., Møller, A. M., Rasmussen, S. K., Fridberg, M. & Holst, Jens Juul, 1997, In: Diabetes. 46, p. 726-730

Research output: Contribution to journal › Journal article › Research › peer-review

Refinement of the dominant optic atrophy locus (OPA1) to a 1,4-cM interval on chromosome 3q28-3q29, within a 3-Mb YAC contig

Jonasdottir, A., Eiberg, Hans Rudolf Lytchoff, Kjer, B., Kjer, P. & Rosenberg, T., 1997, In: Human Genetics. 99, p. 115-120

Research output: Contribution to journal › Journal article › Research › peer-review

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. 922-926

Research output: Contribution to journal › Journal article › Research › peer-review

Susceptibility loci for bipolar affective disorder on chromosome 18? A review and a study of Danish families

Ewald, H., Mors, O., Koed, K., Eiberg, Hans Rudolf Lytchoff & Kruse, T. A., 1997, In: Psychiatric Genetics. 7, p. 1-12

Research output: Contribution to journal › Journal article › Research › peer-review

A linkage study between maniodepressive illness and chromsome 21

Ewald, H., Eiberg, Hans Rudolf Lytchoff, Mors, O., Flint, T. & Kruse, T. A., 1996, In: American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics. 67, p. 218-224

Research output: Contribution to journal › Journal article › Research › peer-review

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. 237-241

Research output: Contribution to journal › Journal article › Research › peer-review

Dombrock blood group (DO): assignment to chromosome 12p

Eiberg, Hans Rudolf Lytchoff & Mohr, J., 1996, In: Human Genetics. 98, p. 518-521

Research output: Contribution to journal › Journal article › Research › peer-review

Dominant optic atrophy mapped to chromosome 3q region

Kjer, B., Eiberg, Hans Rudolf Lytchoff, Kjer, P. & Rosenberg, T., 1996, In: Acta Ophthalmologica Scandinavica. 74, p. 3-7

Research output: Contribution to journal › Journal article › Research › peer-review

A linkage study between manic-depressive illness and chromosome 21

Ewald, H., Eiberg, Hans Rudolf Lytchoff, Mors, O., Flint, T. & Kruse, T. A., 1995, In: Psychiatric Genetics. 5, p. 81-82

Research output: Contribution to journal › Journal article › Research › peer-review

A possible locus for manic depressive illness on chromosome 16p 13

Ewald, H., Mors, O., Flint, T., Koed, K., Eiberg, Hans Rudolf Lytchoff & Kruse, T. A., 1995, In: Psychiatric Genetics. p. 71-81

Research output: Contribution to journal › Journal article › Research › peer-review

A search for genes predisposing to manic depressive illness on chromosome 20

Ewald, H., Mors, O. & Eiberg, Hans Rudolf Lytchoff, 1995, In: Psychiatric Genetics. p. 105-111

Research output: Contribution to journal › Journal article › Research › peer-review

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. 33-38

Research output: Contribution to journal › Journal article › Research › peer-review

Assignment of dominant inherited nocturnal enuresis (ENUR1) to chromosome 13q

Eiberg, Hans Rudolf Lytchoff, Berendt, I. & Mohr, J., 1995, In: Nature Genetics. 10, p. 354-356

Research output: Contribution to journal › Journal article › Research › peer-review

Exclusion Mapping of Classical Late Infantile Neuronal Ceroid Lipofuscinosis (Jansky-Bielschowsky Disease, CLN2). Letter to the editor

Sharp, J. D., Wheeler, R. B., Savukosk, M., Kestila, M., Järvelä, I., Peltonen, L., Eiberg, Hans Rudolf Lytchoff & Gardiner, R. M., 1995, In: European Journal of Human Genetics. 3, p. 326-328

Research output: Contribution to journal › Journal article › Research › peer-review