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Items: 1 to 20 of 45

1.

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 May 26. doi: 10.1002/ajmg.a.38279. [Epub ahead of print]

PMID:
28548707
2.

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
3.

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.

4.

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.

5.

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):130-4. doi: 10.1016/j.gene.2015.07.016. Epub 2015 Jul 8.

PMID:
26164757
6.

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
7.

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.

8.

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.

9.

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
10.

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.

11.

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
12.

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
13.

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.

14.

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
15.

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.

16.

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.

17.

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.

18.

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
19.

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
20.

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.

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