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Items: 1 to 50 of 206

1.

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

Eiberg H, Mikkelsen AF, Bak M, Tommerup N, Lund AM, Wenzel A, Sabarinathan R, Gorodkin J, Bang-Berthelsen CH, Hansen L.

Mol Vis. 2019 Jan 20;25:1-11. eCollection 2019.

2.

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

Hollensted M, Ekstrøm CT, Pedersen O, Eiberg H, Hansen T, Gjesing AP.

BMC Med Genet. 2018 Dec 4;19(1):207. doi: 10.1186/s12881-018-0718-2.

3.

Migraine is associated with high brain 5-HT levels as indexed by 5-HT4 receptor binding.

Deen M, Hougaard A, Hansen HD, Svarer C, Eiberg H, Lehel S, Knudsen GM, Ashina M.

Cephalalgia. 2019 Apr;39(4):526-532. doi: 10.1177/0333102418793642. Epub 2018 Aug 8.

PMID:
30089402
4.

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

Wielsøe M, Eiberg H, Ghisari M, Kern P, Lind O, Bonefeld-Jørgensen EC.

Basic Clin Pharmacol Toxicol. 2018 Sep;123(3):335-346. doi: 10.1111/bcpt.13002. Epub 2018 Apr 23.

5.

High brain serotonin levels in migraine between attacks: A 5-HT4 receptor binding PET study.

Deen M, Hansen HD, Hougaard A, Nørgaard M, Eiberg H, Lehel S, Ashina M, Knudsen GM.

Neuroimage Clin. 2018 Jan 28;18:97-102. doi: 10.1016/j.nicl.2018.01.016. eCollection 2018.

6.

Heredity of supraglottic exercise-induced laryngeal obstruction.

Walsted ES, Hvedstrup J, Eiberg H, Backer V.

Eur Respir J. 2017 Aug 17;50(2). pii: 1700423. doi: 10.1183/13993003.00423-2017. Print 2017 Aug. No abstract available.

7.

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

Maretty L, Jensen JM, Petersen B, Sibbesen JA, Liu S, Villesen P, Skov L, Belling K, Theil Have C, Izarzugaza JMG, Grosjean M, Bork-Jensen J, Grove J, Als TD, Huang S, Chang Y, Xu R, Ye W, Rao J, Guo X, Sun J, Cao H, Ye C, van Beusekom J, Espeseth T, Flindt E, Friborg RM, Halager AE, Le Hellard S, Hultman CM, Lescai F, Li S, Lund O, Løngren P, Mailund T, Matey-Hernandez ML, Mors O, Pedersen CNS, Sicheritz-Pontén T, Sullivan P, Syed A, Westergaard D, Yadav R, Li N, Xu X, Hansen T, Krogh A, Bolund L, Sørensen TIA, Pedersen O, Gupta R, Rasmussen S, Besenbacher S, Børglum AD, Wang J, Eiberg H, Kristiansen K, Brunak S, Schierup MH.

Nature. 2017 Aug 3;548(7665):87-91. doi: 10.1038/nature23264. Epub 2017 Jul 26.

PMID:
28746312
8.

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

Wood AR, Jonsson A, Jackson AU, Wang N, van Leewen N, Palmer ND, Kobes S, Deelen J, Boquete-Vilarino L, Paananen J, Stančáková A, Boomsma DI, de Geus EJC, Eekhoff EMW, Fritsche A, Kramer M, Nijpels G, Simonis-Bik A, van Haeften TW, Mahajan A, Boehnke M, Bergman RN, Tuomilehto J, Collins FS, Mohlke KL, Banasik K, Groves CJ, McCarthy MI; Diabetes Research on Patient Stratification (DIRECT), Pearson ER, Natali A, Mari A, Buchanan TA, Taylor KD, Xiang AH, Gjesing AP, Grarup N, Eiberg H, Pedersen O, Chen YD, Laakso M, Norris JM, Smith U, Wagenknecht LE, Baier L, Bowden DW, Hansen T, Walker M, Watanabe RM, 't Hart LM, Hanson RL, Frayling TM.

Diabetes. 2017 Aug;66(8):2296-2309. doi: 10.2337/db16-1452. Epub 2017 May 10.

9.

Abdominal Wall Defects in Greenland 1989-2015.

Bugge M, Drachmann G, Kern P, Budtz-Jørgensen E, Eiberg H, Olsen B, Tommerup N, Nielsen IM.

Birth Defects Res. 2017 Jul 3;109(11):836-842. doi: 10.1002/bdr2.1025. Epub 2017 May 2.

PMID:
28464537
10.

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

Schnurr TM, Gjesing AP, Sandholt CH, Jonsson A, Mahendran Y, Have CT, Ekstrøm CT, Bjerregaard AL, Brage S, Witte DR, Jørgensen ME, Aadahl M, Thuesen BH, Linneberg A, Eiberg H, Pedersen O, Grarup N, Kilpeläinen TO, Hansen T.

PLoS One. 2016 Nov 15;11(11):e0166738. doi: 10.1371/journal.pone.0166738. eCollection 2016.

11.

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

Hulman A, Simmons RK, Vistisen D, Tabák AG, Dekker JM, Alssema M, Rutters F, Koopman AD, Solomon TP, Kirwan JP, Hansen T, Jonsson A, Gjesing AP, Eiberg H, Astrup A, Pedersen O, Sørensen TI, Witte DR, Færch K.

Endocrine. 2017 Feb;55(2):427-434. doi: 10.1007/s12020-016-1126-z. Epub 2016 Oct 3.

PMID:
27699707
12.

Reply.

Gardella E, Beniczky S, Møller RS, Becker F, Lemke JR, Syrbe S, Eiberg H, Bast T, Steinhoff B, Nürnberg P, Gellert P, Dahl HA, Weckhuysen S, Heron SE, Dibbens LM, Hjalgrim H, Lerche H, Weber YG.

Ann Neurol. 2016 Jul;80(1):168-9. doi: 10.1002/ana.24669. Epub 2016 May 10. No abstract available.

PMID:
27098683
13.

Blood-based biomarkers of age-associated epigenetic changes in human islets associate with insulin secretion and diabetes.

Bacos K, Gillberg L, Volkov P, Olsson AH, Hansen T, Pedersen O, Gjesing AP, Eiberg H, Tuomi T, Almgren P, Groop L, Eliasson L, Vaag A, Dayeh T, Ling C.

Nat Commun. 2016 Mar 31;7:11089. doi: 10.1038/ncomms11089.

14.

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.

Gardella E, Becker F, Møller RS, Schubert J, Lemke JR, Larsen LH, Eiberg H, Nothnagel M, Thiele H, Altmüller J, Syrbe S, Merkenschlager A, Bast T, Steinhoff B, Nürnberg P, Mang Y, Bakke Møller L, Gellert P, Heron SE, Dibbens LM, Weckhuysen S, Dahl HA, Biskup S, Tommerup N, Hjalgrim H, Lerche H, Beniczky S, Weber YG.

Ann Neurol. 2016 Mar;79(3):428-36. doi: 10.1002/ana.24580. Epub 2016 Feb 13.

PMID:
26677014
15.

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

Thomsen SB, Gjesing AP, Rathcke CN, Ekstrøm CT, Eiberg H, Hansen T, Pedersen O, Vestergaard H.

PLoS One. 2015 Jul 21;10(7):e0133672. doi: 10.1371/journal.pone.0133672. eCollection 2015.

16.

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

Rudkjøbing LA, Eiberg H, Mikkelsen HB, Binderup ML, Bisgaard ML.

Fam Cancer. 2015 Sep;14(3):393-400. doi: 10.1007/s10689-015-9791-2.

PMID:
25724759
17.

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

Gjesing AP, Ribel-Madsen R, Harder MN, Eiberg H, Grarup N, Jørgensen T, Ekstrøm CT, Pedersen O, Hansen T.

Diabetologia. 2015 May;58(5):1006-12. doi: 10.1007/s00125-015-3516-9. Epub 2015 Feb 9.

PMID:
25660259
18.

Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios.

Besenbacher S, Liu S, Izarzugaza JM, Grove J, Belling K, Bork-Jensen J, Huang S, Als TD, Li S, Yadav R, Rubio-García A, Lescai F, Demontis D, Rao J, Ye W, Mailund T, Friborg RM, Pedersen CN, Xu R, Sun J, Liu H, Wang O, Cheng X, Flores D, Rydza E, Rapacki K, Damm Sørensen J, Chmura P, Westergaard D, Dworzynski P, Sørensen TI, Lund O, Hansen T, Xu X, Li N, Bolund L, Pedersen O, Eiberg H, Krogh A, Børglum AD, Brunak S, Kristiansen K, Schierup MH, Wang J, Gupta R, Villesen P, Rasmussen S.

Nat Commun. 2015 Jan 19;6:5969. doi: 10.1038/ncomms6969.

19.

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

Minocherhomji S, Hansen C, Kim HG, Mang Y, Bak M, Guldberg P, Papadopoulos N, Eiberg H, Doh GD, Møllgård K, Hertz JM, Nielsen JE, Ropers HH, Tümer Z, Tommerup N, Kalscheuer VM, Silahtaroglu A.

Hum Mol Genet. 2014 Dec 1;23(23):6163-76. doi: 10.1093/hmg/ddu337. Epub 2014 Jul 1.

20.

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

Lund M, Diaz LJ, Gørtz S, Feenstra B, Duno M, Juncker I, Eiberg H, Vissing J, Wohlfahrt J, Melbye M.

Eur J Neurol. 2014 Sep;21(9):1192-7. doi: 10.1111/ene.12466. Epub 2014 May 17.

PMID:
24838088
21.

Cardiac involvement in myotonic dystrophy: a nationwide cohort study.

Lund M, Diaz LJ, Ranthe MF, Petri H, Duno M, Juncker I, Eiberg H, Vissing J, Bundgaard H, Wohlfahrt J, Melbye M.

Eur Heart J. 2014 Aug 21;35(32):2158-64. doi: 10.1093/eurheartj/ehu157. Epub 2014 Apr 16.

PMID:
24742887
22.

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 H, Long M, Bonefeld-Jørgensen EC.

Environ Health. 2014 Mar 16;13(1):19. doi: 10.1186/1476-069X-13-19.

23.

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

Gjesing AP, Hornbak M, Allin KH, Ekstrøm CT, Urhammer SA, Eiberg H, Pedersen O, Hansen T.

Diabetologia. 2014 Jun;57(6):1173-81. doi: 10.1007/s00125-014-3207-y. Epub 2014 Mar 7.

PMID:
24604100
24.

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

Hansen L, Comyn S, Mang Y, Lind-Thomsen A, Myhre L, Jean F, Eiberg H, Tommerup N, Rosenberg T, Pilgrim D.

Eur J Hum Genet. 2014 Nov;22(11):1290-7. doi: 10.1038/ejhg.2014.21. Epub 2014 Feb 19.

25.

Identification of novel locus at chromosome 3p12.3-q13.31 for autosomal recessive intellectual disability in a consanguineous family.

Dad S, Østergaard E, Wadt KA, Lunding J, Eiberg H, Møller LB.

Clin Genet. 2014 Apr;85(4):390-2. doi: 10.1111/cge.12161. Epub 2013 Apr 29. No abstract available.

PMID:
23627725
26.

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

Nielsen TT, Svenstrup K, Budtz-Jørgensen E, Eiberg H, Hasholt L, Nielsen JE.

J Neurol Sci. 2012 Oct 15;321(1-2):100-2. doi: 10.1016/j.jns.2012.07.036. Epub 2012 Aug 3.

PMID:
22868089
27.

Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%.

Almind GJ, Ek J, Rosenberg T, Eiberg H, Larsen M, Lucamp L, Brøndum-Nielsen K, Grønskov K.

BMC Med Genet. 2012 Aug 2;13:65. doi: 10.1186/1471-2350-13-65.

28.

Genetic studies in congenital anterior midline cervical cleft.

Jakobsen LP, Pfeiffer P, Andersen M, Eiberg H, Hansen L, Mang Y, Bak M, Møller RS, Klitten LL, Tommerup N.

Am J Med Genet A. 2012 Aug;158A(8):2021-6. doi: 10.1002/ajmg.a.35466. Epub 2012 Jul 11.

PMID:
22786797
29.

Genetic heterogeneity in Pakistani microcephaly families.

Sajid Hussain M, Marriam Bakhtiar S, Farooq M, Anjum I, Janzen E, Reza Toliat M, Eiberg H, Kjaer KW, Tommerup N, Noegel AA, Nürnberg P, Baig SM, Hansen L.

Clin Genet. 2013 May;83(5):446-51. doi: 10.1111/j.1399-0004.2012.01932.x. Epub 2012 Aug 7.

PMID:
22775483
30.

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

Homøe P, Koch A, Rendtorff ND, Lodahl M, Andersen T, Andersen S, Eiberg H, Nielsen IM, Tranebjærg L.

Int J Audiol. 2012 Jun;51(6):433-6. doi: 10.3109/14992027.2012.660575. Epub 2012 Feb 27.

PMID:
22369226
31.

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

Gjesing AP, Ekstrøm CT, Eiberg H, Urhammer SA, Holst JJ, Pedersen O, Hansen T.

Diabetologia. 2012 May;55(5):1338-45. doi: 10.1007/s00125-012-2484-6. Epub 2012 Feb 15.

PMID:
22349073
32.

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

Lauenborg J, Jørgensen MK, Damm P, Major-Pedersen A, Eiberg H, Urhammer S, Pedersen O, Hansen T.

Acta Obstet Gynecol Scand. 2011 Dec;90(12):1357-63. doi: 10.1111/j.1600-0412.2011.01276.x. Epub 2011 Oct 18.

PMID:
21916855
33.

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 L, Eiberg H, Van Hall G, Fallentin E, Larsen T, Larsen R, Poulsen P, Vaag A.

J Clin Endocrinol Metab. 2011 Sep;96(9):2835-43. doi: 10.1210/jc.2011-0577. Epub 2011 Jul 6.

PMID:
21733994
34.

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

Eiberg H, Hansen L, Korbo L, Nielsen IM, Svenstrup K, Bech S, Pinborg LH, Friberg L, Hjermind LE, Olsen OR, Nielsen JE.

Clin Genet. 2012 Sep;82(3):256-63. doi: 10.1111/j.1399-0004.2011.01745.x. Epub 2011 Jul 18.

PMID:
21696388
35.

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

Rehman Su, Baig SM, Eiberg H, Rehman Su, Ahmad I, Malik NA, Tommerup N, Hansen L.

Neurogenetics. 2011 Aug;12(3):247-51. doi: 10.1007/s10048-011-0286-5. Epub 2011 Jun 4.

PMID:
21643797
36.

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

Jakobsen LP, Bugge M, Ullmann R, Schjerling CK, Borup R, Hansen L, Eiberg H, Tommerup N.

Am J Med Genet A. 2011 Mar;155A(3):652-5. doi: 10.1002/ajmg.a.33855. Epub 2011 Feb 22. No abstract available.

PMID:
21344637
37.

RUNX2 analysis of Danish cleidocranial dysplasia families.

Hansen L, Riis AK, Silahtaroglu A, Hove H, Lauridsen E, Eiberg H, Kreiborg S.

Clin Genet. 2011 Mar;79(3):254-63. doi: 10.1111/j.1399-0004.2010.01458.x.

PMID:
20560987
38.

Human eye colour and HERC2, OCA2 and MATP.

Mengel-From J, Børsting C, Sanchez JJ, Eiberg H, Morling N.

Forensic Sci Int Genet. 2010 Oct;4(5):323-8. doi: 10.1016/j.fsigen.2009.12.004. Epub 2010 Jan 12.

PMID:
20457063
39.

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

Gjesing AP, Larsen LH, Torekov SS, Hainerová IA, Kapur R, Johansen A, Albrechtsen A, Boj S, Holst B, Harper A, Urhammer SA, Borch-Johnsen K, Pisinger C, Echwald SM, Eiberg H, Astrup A, Lebl J, Ferrer J, Schwartz TW, Hansen T, Pedersen O.

PLoS One. 2010 Apr 9;5(4):e10084. doi: 10.1371/journal.pone.0010084.

40.
41.

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 JT, Boyd M, Eiberg H, Hansen L, Hussain MS, Rehman Su, Azhar A, Ali A, Bakhtiar SM, Tommerup N, Baig SM, Kjaer KW.

Eur J Hum Genet. 2010 Jun;18(6):733-6. doi: 10.1038/ejhg.2009.225. Epub 2010 Jan 13.

42.

Huntington's disease-like and ataxia syndromes: identification of a family with a de novo SCA17/TBP mutation.

Bech S, Petersen T, Nørremølle A, Gjedde A, Ehlers L, Eiberg H, Hjermind LE, Hasholt L, Lundorf E, Nielsen JE.

Parkinsonism Relat Disord. 2010 Jan;16(1):12-5. doi: 10.1016/j.parkreldis.2009.06.006.

PMID:
19595623
43.

A high frequent BRCA1 founder mutation identified in the Greenlandic population.

Harboe TL, Eiberg H, Kern P, Ejlertsen B, Nedergaard L, Timmermans-Wielenga V, Nielsen IM, Bisgaard ML.

Fam Cancer. 2009;8(4):413-9. doi: 10.1007/s10689-009-9257-5. Epub 2009 Jun 7.

PMID:
19504351
44.

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

Svenstrup K, Bross P, Koefoed P, Hjermind LE, Eiberg H, Born AP, Vissing J, Gyllenborg J, Nørremølle A, Hasholt L, Nielsen JE.

J Neurol Sci. 2009 Sep 15;284(1-2):90-5. doi: 10.1016/j.jns.2009.04.024. Epub 2009 May 6.

PMID:
19423133
45.

Compound heterozygous ASPM mutations in Pakistani MCPH families.

Muhammad F, Mahmood Baig S, Hansen L, Sajid Hussain M, Anjum Inayat I, Aslam M, Anver Qureshi J, Toilat M, Kirst E, Wajid M, Nürnberg P, Eiberg H, Tommerup N, Kjaer KW.

Am J Med Genet A. 2009 May;149A(5):926-30. doi: 10.1002/ajmg.a.32749.

PMID:
19353628
46.

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

Kragelund C, Hansen C, Reibel J, Nauntofte B, Broesen K, Pedersen AM, Smidt D, Eiberg H, Torpet LA.

J Oral Pathol Med. 2009 Jan;38(1):63-71. doi: 10.1111/j.1600-0714.2008.00702.x.

PMID:
19192051
47.

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

Hansen L, Mikkelsen A, Nürnberg P, Nürnberg G, Anjum I, Eiberg H, Rosenberg T.

Invest Ophthalmol Vis Sci. 2009 Jul;50(7):3291-303. doi: 10.1167/iovs.08-3149. Epub 2009 Jan 31. Erratum in: Invest Ophthalmol Vis Sci. 2012;53(10):6667.

PMID:
19182255
48.

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

Zobel DP, Andreasen CH, Burgdorf KS, Andersson EA, Sandbaek A, Lauritzen T, Borch-Johnsen K, Jørgensen T, Maeda S, Nakamura Y, Eiberg H, Pedersen O, Hansen T.

Eur J Endocrinol. 2009 Apr;160(4):603-9. doi: 10.1530/EJE-08-0688. Epub 2009 Jan 15. Erratum in: Eur J Endocrinol. 1010 Jan;162(1):191. Pederse, Oluf [corrected to Pedersen, Oluf].

PMID:
19147600
49.

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

Zobel DP, Andreasen CH, Grarup N, Eiberg H, Sørensen TI, Sandbaek A, Lauritzen T, Borch-Johnsen K, Jørgensen T, Pedersen O, Hansen T.

Diabetes. 2009 Mar;58(3):757-64. doi: 10.2337/db08-0620. Epub 2008 Dec 10.

50.

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

Mengel-From J, Børsting C, Sanchez JJ, Eiberg H, Morling N.

Electrophoresis. 2008 Dec;29(23):4780-7. doi: 10.1002/elps.200800107.

PMID:
19016241

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