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Items: 1 to 50 of 51

1.

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

Jespersgaard C, Fang M, Bertelsen M, Dang X, Jensen H, Chen Y, Bech N, Dai L, Rosenberg T, Zhang J, Møller LB, Tümer Z, Brøndum-Nielsen K, Grønskov K.

Sci Rep. 2019 Feb 4;9(1):1219. doi: 10.1038/s41598-018-38007-2.

2.

A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1.

Grønskov K, Jespersgaard C, Bruun GH, Harris P, Brøndum-Nielsen K, Andresen BS, Rosenberg T.

Sci Rep. 2019 Jan 24;9(1):645. doi: 10.1038/s41598-018-37272-5.

3.

Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization.

Nazaryan-Petersen L, Eisfeldt J, Pettersson M, Lundin J, Nilsson D, Wincent J, Lieden A, Lovmar L, Ottosson J, Gacic J, Mäkitie O, Nordgren A, Vezzi F, Wirta V, Käller M, Hjortshøj TD, Jespersgaard C, Houssari R, Pignata L, Bak M, Tommerup N, Lundberg ES, Tümer Z, Lindstrand A.

PLoS Genet. 2018 Nov 12;14(11):e1007780. doi: 10.1371/journal.pgen.1007780. eCollection 2018 Nov.

4.

Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements.

Schönewolf-Greulich B, Bisgaard AM, Dunø M, Jespersgaard C, Rokkjaer M, Hansen LK, Tsoutsou E, Sofokleous C, Topcu M, Kaur S, Van Bergen NJ, Brøndum-Nielsen K, Larsen MJ, Sørensen KP, Christodoulou J, Fagerberg CR, Tümer Z.

Clin Genet. 2019 Mar;95(3):403-408. doi: 10.1111/cge.13473. Epub 2018 Dec 7.

PMID:
30417326
5.

Heterozygous mutations in GTP-cyclohydrolase-1 reduce BH4 biosynthesis but not pain sensitivity.

Nasser A, Møller AT, Hellmund V, Thorborg SS, Jespersgaard C, Bjerrum OJ, Dupont E, Nachman G, Lykkesfeldt J, Jensen TS, Møller LB.

Pain. 2018 Jun;159(6):1012-1024. doi: 10.1097/j.pain.0000000000001175.

PMID:
29470312
6.

Clinician's guide to genes associated with Rett-like phenotypes-Investigation of a Danish cohort and review of the literature.

Schönewolf-Greulich B, Bisgaard AM, Møller RS, Dunø M, Brøndum-Nielsen K, Kaur S, Van Bergen NJ, Lunke S, Eggers S, Jespersgaard C, Christodoulou J, Tümer Z.

Clin Genet. 2019 Feb;95(2):221-230. doi: 10.1111/cge.13153. Epub 2018 Jan 25. Review.

PMID:
29023665
7.

Phenotypes and genotypes in individuals with SMC1A variants.

Huisman S, Mulder PA, Redeker E, Bader I, Bisgaard AM, Brooks A, Cereda A, Cinca C, Clark D, Cormier-Daire V, Deardorff MA, Diderich K, Elting M, van Essen A, FitzPatrick D, Gervasini C, Gillessen-Kaesbach G, Girisha KM, Hilhorst-Hofstee Y, Hopman S, Horn D, Isrie M, Jansen S, Jespersgaard C, Kaiser FJ, Kaur M, Kleefstra T, Krantz ID, Lakeman P, Landlust A, Lessel D, Michot C, Moss J, Noon SE, Oliver C, Parenti I, Pie J, Ramos FJ, Rieubland C, Russo S, Selicorni A, Tümer Z, Vorstenbosch R, Wenger TL, van Balkom I, Piening S, Wierzba J, Hennekam RC.

Am J Med Genet A. 2017 Aug;173(8):2108-2125. doi: 10.1002/ajmg.a.38279. Epub 2017 May 26.

PMID:
28548707
8.

A novel RAD21 variant associated with intrafamilial phenotypic variation in Cornelia de Lange syndrome - review of the literature.

Boyle MI, Jespersgaard C, Nazaryan L, Bisgaard AM, Tümer Z.

Clin Genet. 2017 Apr;91(4):647-649. doi: 10.1111/cge.12863. Epub 2016 Nov 24.

PMID:
27882533
9.

TS-EUROTRAIN: A European-Wide Investigation and Training Network on the Etiology and Pathophysiology of Gilles de la Tourette Syndrome.

Forde NJ, Kanaan AS, Widomska J, Padmanabhuni SS, Nespoli E, Alexander J, Rodriguez Arranz JI, Fan S, Houssari R, Nawaz MS, Rizzo F, Pagliaroli L, Zilhäo NR, Aranyi T, Barta C, Boeckers TM, Boomsma DI, Buisman WR, Buitelaar JK, Cath D, Dietrich A, Driessen N, Drineas P, Dunlap M, Gerasch S, Glennon J, Hengerer B, van den Heuvel OA, Jespersgaard C, Möller HE, Müller-Vahl KR, Openneer TJ, Poelmans G, Pouwels PJ, Scharf JM, Stefansson H, Tümer Z, Veltman DJ, van der Werf YD, Hoekstra PJ, Ludolph A, Paschou P.

Front Neurosci. 2016 Aug 23;10:384. doi: 10.3389/fnins.2016.00384. eCollection 2016.

10.

Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development.

Jespersgaard C, Damgaard IN, Cornelius N, Bache I, Knabe N, Miranda MJ, Tümer Z.

Mol Cytogenet. 2016 Feb 4;9:11. doi: 10.1186/s13039-016-0220-5. eCollection 2016.

11.

Deletion of 11q12.3-11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome.

Boyle MI, Jespersgaard C, Nazaryan L, Ravn K, Brøndum-Nielsen K, Bisgaard AM, Tümer Z.

Gene. 2015 Nov 1;572(1):130-134. doi: 10.1016/j.gene.2015.07.016. Epub 2015 Jul 8.

PMID:
26164757
12.

Cornelia de Lange syndrome.

Boyle MI, Jespersgaard C, Brøndum-Nielsen K, Bisgaard AM, Tümer Z.

Clin Genet. 2015 Jul;88(1):1-12. doi: 10.1111/cge.12499. Epub 2014 Oct 28. Review.

PMID:
25209348
13.

MT-CYB mutations in hypertrophic cardiomyopathy.

Hagen CM, Aidt FH, Havndrup O, Hedley PL, Jespersgaard C, Jensen M, Kanters JK, Moolman-Smook JC, Møller DV, Bundgaard H, Christiansen M.

Mol Genet Genomic Med. 2013 May;1(1):54-65. doi: 10.1002/mgg3.5. Epub 2013 Apr 12. Erratum in: Mol Genet Genomic Med. 2013 Sep;1(3):187.

14.

Long QT syndrome in South Africa: the results of comprehensive genetic screening.

Hedley PL, Durrheim GA, Hendricks F, Goosen A, Jespersgaard C, Støvring B, Pham TT, Christiansen M, Brink PA, Corfield VA.

Cardiovasc J Afr. 2013 Jul;24(6):231-7. doi: 10.5830/CVJA-2013-032.

15.

Ring chromosome 9 in a girl with developmental delay and dysmorphic features: case report and review of the literature.

la Cour Sibbesen E, Jespersgaard C, Alosi D, Bisgaard AM, Tümer Z.

Am J Med Genet A. 2013 Jun;161A(6):1447-52. doi: 10.1002/ajmg.a.35901. Epub 2013 Apr 30.

PMID:
23633410
16.

A novel B-domain O-glycoPEGylated FVIII (N8-GP) demonstrates full efficacy and prolonged effect in hemophilic mice models.

Stennicke HR, Kjalke M, Karpf DM, Balling KW, Johansen PB, Elm T, Øvlisen K, Möller F, Holmberg HL, Gudme CN, Persson E, Hilden I, Pelzer H, Rahbek-Nielsen H, Jespersgaard C, Bogsnes A, Pedersen AA, Kristensen AK, Peschke B, Kappers W, Rode F, Thim L, Tranholm M, Ezban M, Olsen EH, Bjørn SE.

Blood. 2013 Mar 14;121(11):2108-16. doi: 10.1182/blood-2012-01-407494. Epub 2013 Jan 18.

17.

Chemical and thermal unfolding of calreticulin.

Duus K, Larsen N, Tran TA, Güven E, Skov LK, Jespersgaard C, Gajhede M, Houen G.

Protein Pept Lett. 2013 May;20(5):562-8.

PMID:
22998950
18.

Real-time TaqMan polymerase chain reaction-based genus-identification and pyrosequencing-based species identification of Campylobacter jejuni, C. coli, C. lari, C. upsaliensis, and C. fetus directly on stool samples.

Persson S, Petersen HM, Jespersgaard C, Olsen KE.

Diagn Microbiol Infect Dis. 2012 Sep;74(1):6-10. doi: 10.1016/j.diagmicrobio.2012.05.029. Epub 2012 Jul 6.

PMID:
22770773
19.

Hemostatic effect of a monoclonal antibody mAb 2021 blocking the interaction between FXa and TFPI in a rabbit hemophilia model.

Hilden I, Lauritzen B, Sørensen BB, Clausen JT, Jespersgaard C, Krogh BO, Bowler AN, Breinholt J, Gruhler A, Svensson LA, Petersen HH, Petersen LC, Balling KW, Hansen L, Hermit MB, Egebjerg T, Friederichsen B, Ezban M, Bjørn SE.

Blood. 2012 Jun 14;119(24):5871-8. doi: 10.1182/blood-2012-01-401620. Epub 2012 May 4.

PMID:
22563084
20.

There is no association between the circadian clock gene HPER3 and cognitive dysfunction after noncardiac surgery.

Voigt Hansen M, Rasmussen LS, Jespersgaard C, Rosenberg J, Gogenur I.

Anesth Analg. 2012 Aug;115(2):379-85. doi: 10.1213/ANE.0b013e318253d6b3. Epub 2012 Apr 27.

PMID:
22543063
21.

Genome-wide peripheral blood leukocyte DNA methylation microarrays identified a single association with inflammatory bowel diseases.

Harris RA, Nagy-Szakal D, Pedersen N, Opekun A, Bronsky J, Munkholm P, Jespersgaard C, Andersen P, Melegh B, Ferry G, Jess T, Kellermayer R.

Inflamm Bowel Dis. 2012 Dec;18(12):2334-41. doi: 10.1002/ibd.22956. Epub 2012 Mar 29.

22.

Genetic variability in beta-defensins is not associated with susceptibility to Staphylococcus aureus bacteremia.

Fode P, Larsen AR, Feenstra B, Jespersgaard C, Skov RL, Stegger M, Fowler VG Jr; Danish SAB Study Group Consortium, Andersen PS.

PLoS One. 2012;7(2):e32315. doi: 10.1371/journal.pone.0032315. Epub 2012 Feb 22.

23.

Cytochrome P450 polymorphism and postoperative cognitive dysfunction.

Steinmetz J, Jespersgaard C, Dalhoff K, Hedley P, Abildstrøm H, Christiansen M, Rasmussen LS; ISPOCD group.

Minerva Anestesiol. 2012 Mar;78(3):303-9.

24.

Mosaicism in segmental Darier disease: an in-depth molecular analysis quantifying proportions of mutated alleles in various tissues.

Harboe TL, Willems P, Jespersgaard C, Mølgaard Poulsen ML, Sørensen FB, Bisgaard ML.

Dermatology. 2011;222(4):292-6. doi: 10.1159/000328404. Epub 2011 Jul 1.

PMID:
21720150
25.

Alpha-defensin DEFA1A3 gene copy number elevation in Danish Crohn's disease patients.

Jespersgaard C, Fode P, Dybdahl M, Vind I, Nielsen OH, Csillag C, Munkholm P, Vainer B, Riis L, Elkjaer M, Pedersen N, Knudsen E, Andersen PS.

Dig Dis Sci. 2011 Dec;56(12):3517-24. doi: 10.1007/s10620-011-1794-8. Epub 2011 Jun 24.

PMID:
21701837
26.

Determination of beta-defensin genomic copy number in different populations: a comparison of three methods.

Fode P, Jespersgaard C, Hardwick RJ, Bogle H, Theisen M, Dodoo D, Lenicek M, Vitek L, Vieira A, Freitas J, Andersen PS, Hollox EJ.

PLoS One. 2011 Feb 22;6(2):e16768. doi: 10.1371/journal.pone.0016768.

27.

Identification and delineation of members of the Entamoeba complex by pyrosequencing.

Stensvold CR, Lebbad M, Verweij JJ, Jespersgaard C, von Samson-Himmelstjerna G, Nielsen SS, Nielsen HV.

Mol Cell Probes. 2010 Dec;24(6):403-6. doi: 10.1016/j.mcp.2010.07.008. Epub 2010 Aug 4.

PMID:
20691255
28.

Hereditary hemochromatosis (HFE) genotypes in heart failure: relation to etiology and prognosis.

Møller DV, Pecini R, Gustafsson F, Hassager C, Hedley P, Jespersgaard C, Torp-Pedersen C, Christiansen M, Køber LV; EchoCardiography and Heart Outcome Study Investigators.

BMC Med Genet. 2010 Jul 29;11:117. doi: 10.1186/1471-2350-11-117.

29.

Polymorphisms in inflammation genes, tobacco smoke and furred pets and wheeze in children.

Sørensen M, Allermann L, Vogel U, Andersen PS, Jespersgaard C, Loft S, Raaschou-Nielsen O.

Pediatr Allergy Immunol. 2009 Nov;20(7):614-23. doi: 10.1111/j.1399-3038.2009.00855.x. Epub 2009 Aug 6.

PMID:
19674346
30.

Genetic and environmental factors as predictors of disease severity and extent at time of diagnosis in an inception cohort of inflammatory bowel disease, Copenhagen County and City 2003-2005.

Vind I, Riis L, Jespersgaard C, Jess T, Knudsen E, Pedersen N, Elkjaere M, Hansen TS, Andersen IB, Paerregaard A, Bondesen S, Locht H, Larsen SO, Moesgaard F, Bendtsen F, Andersen PS, Munkholm P; DCCD study group.

J Crohns Colitis. 2008 Jun;2(2):162-9. doi: 10.1016/j.crohns.2008.01.004. Epub 2008 Mar 4.

PMID:
21172207
31.

The diagnostic efficiency of biomarkers in sporadic Creutzfeldt-Jakob disease compared to Alzheimer's disease.

Bahl JM, Heegaard NH, Falkenhorst G, Laursen H, Høgenhaven H, Mølbak K, Jespersgaard C, Hougs L, Waldemar G, Johannsen P, Christiansen M.

Neurobiol Aging. 2009 Nov;30(11):1834-41. doi: 10.1016/j.neurobiolaging.2008.01.013. Epub 2008 Mar 12.

PMID:
18339451
32.

Detecting Blastocystis using parasitologic and DNA-based methods: a comparative study.

Stensvold CR, Arendrup MC, Jespersgaard C, Mølbak K, Nielsen HV.

Diagn Microbiol Infect Dis. 2007 Nov;59(3):303-7. Epub 2007 Oct 29.

PMID:
17913433
33.
34.

Whole genome amplification on DNA from filter paper blood spot samples: an evaluation of selected systems.

Sørensen KM, Jespersgaard C, Vuust J, Hougaard D, Nørgaard-Pedersen B, Andersen PS.

Genet Test. 2007 Spring;11(1):65-71.

PMID:
17394394
35.

Blastocystis: subtyping isolates using pyrosequencing technology.

Stensvold CR, Traub RJ, von Samson-Himmelstjerna G, Jespersgaard C, Nielsen HV, Thompson RC.

Exp Parasitol. 2007 Jun;116(2):111-9. Epub 2006 Dec 24.

PMID:
17266951
36.

Optimization of capillary array electrophoresis single-strand conformation polymorphism analysis for routine molecular diagnostics.

Jespersgaard C, Larsen LA, Baba S, Kukita Y, Tahira T, Christiansen M, Vuust J, Hayashi K, Andersen PS.

Electrophoresis. 2006 Oct;27(19):3816-22.

PMID:
16941449
37.

Disease concordance, zygosity, and NOD2/CARD15 status: follow-up of a population-based cohort of Danish twins with inflammatory bowel disease.

Jess T, Riis L, Jespersgaard C, Hougs L, Andersen PS, Orholm MK, Binder V, Munkholm P.

Am J Gastroenterol. 2005 Nov;100(11):2486-92.

PMID:
16279904
38.

Genetic and environmental factors in monozygotic twins with Crohn's disease and their first-degree relatives: a case report.

Vind I, Jespersgaard C, Hougs L, Riis L, Dinesen L, Andersen PS, Locht H, Jess T, Munkholm P.

Digestion. 2005;71(4):262-5. Epub 2005 Jul 12.

PMID:
16024933
39.
40.

Capillary electrophoresis-based single strand DNA conformation analysis in high-throughput mutation screening.

Andersen PS, Jespersgaard C, Vuust J, Christiansen M, Larsen LA.

Hum Mutat. 2003 May;21(5):455-65. Review.

PMID:
12673787
41.

High-throughput single strand conformation polymorphism mutation detection by automated capillary array electrophoresis: validation of the method.

Andersen PS, Jespersgaard C, Vuust J, Christiansen M, Larsen LA.

Hum Mutat. 2003 Feb;21(2):116-22.

PMID:
12552558
42.

Enhanced immunogenicity of a genetic chimeric protein consisting of two virulence antigens of Streptococcus mutans and protection against infection.

Zhang P, Jespersgaard C, Lamberty-Mallory L, Katz J, Huang Y, Hajishengallis G, Michalek SM.

Infect Immun. 2002 Dec;70(12):6779-87.

43.
44.

[Preimplantation genetic diagnosis. The first experiences in Denmark].

Ingerslev HJ, Hindkjaer J, Jespersgaard C, Lind MP, Kølvraa S.

Ugeskr Laeger. 2001 Oct 1;163(40):5525-8. Danish.

PMID:
11601119
45.

Effect of attenuated Salmonella enterica serovar Typhimurium expressing a Streptococcus mutans antigen on secondary responses to the cloned protein.

Jespersgaard C, Zhang P, Hajishengallis G, Russell MW, Michalek SM.

Infect Immun. 2001 Nov;69(11):6604-11.

46.

[Preimplantation diagnosis. The Danish Society of Obstetrics and Gynecology].

Ingerslev HJ, Jespersgaard C, Hindkjaer J.

Ugeskr Laeger. 2001 Mar 19;163(12):1706. Danish. No abstract available.

PMID:
11284406
47.

Human and mouse mitochondrial orthologs of bacterial ClpX.

Corydon TJ, Wilsbech M, Jespersgaard C, Andresen BS, Borglum AD, Pedersen S, Bolund L, Gregersen N, Bross P.

Mamm Genome. 2000 Oct;11(10):899-905.

PMID:
11003706
48.

Protective immunity against Streptococcus mutans infection in mice after intranasal immunization with the glucan-binding region of S. mutans glucosyltransferase.

Jespersgaard C, Hajishengallis G, Huang Y, Russell MW, Smith DJ, Michalek SM.

Infect Immun. 1999 Dec;67(12):6543-9.

49.

Functional and immunogenic characterization of two cloned regions of Streptococcus mutans glucosyltransferase I.

Jespersgaard C, Hajishengallis G, Greenway TE, Smith DJ, Russell MW, Michalek SM.

Infect Immun. 1999 Feb;67(2):810-6.

50.

A comprehensive genetic study of streptococcal immunoglobulin A1 proteases: evidence for recombination within and between species.

Poulsen K, Reinholdt J, Jespersgaard C, Boye K, Brown TA, Hauge M, Kilian M.

Infect Immun. 1998 Jan;66(1):181-90.

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