Jespersgaard C - Search Results

1

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. Nasser A, et al. Among authors: jespersgaard c. Pain. 2018 Jun;159(6):1012-1024. doi: 10.1097/j.pain.0000000000001175. Pain. 2018. PMID: 29470312

2

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. Jespersgaard C, et al. Sci Rep. 2019 Feb 4;9(1):1219. doi: 10.1038/s41598-018-38007-2. Sci Rep. 2019. PMID: 30718709 Free PMC article.

3

Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa.

Jespersgaard C, Bertelsen M, Arif F, Gellert-Kristensen HG, Fang M, Jensen H, Rosenberg T, Tümer Z, Møller LB, Brøndum-Nielsen K, Grønskov K. Jespersgaard C, et al. Genes (Basel). 2020 Dec 18;11(12):1517. doi: 10.3390/genes11121517. Genes (Basel). 2020. PMID: 33353011 Free PMC article.

4

A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium.

Jespersgaard C, Hey AB, Ilginis T, Hjortshøj TD, Fang M, Bertelsen M, Bech N, Jensen H, Larsen LJ, Tümer Z, Rosenberg T, Brøndum-Nielsen K, Møller LB, Grønskov K. Jespersgaard C, et al. Invest Ophthalmol Vis Sci. 2020 Feb 7;61(2):29. doi: 10.1167/iovs.61.2.29. Invest Ophthalmol Vis Sci. 2020. PMID: 32084271 Free PMC article.

5

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. Hagen CM, et al. Among authors: jespersgaard c. Mol Genet Genomic Med. 2013 May;1(1):54-65. doi: 10.1002/mgg3.5. Epub 2013 Apr 12. Mol Genet Genomic Med. 2013. PMID: 24498601 Free PMC article.

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. Schönewolf-Greulich B, et al. Among authors: jespersgaard c. Clin Genet. 2019 Feb;95(2):221-230. doi: 10.1111/cge.13153. Epub 2018 Jan 25. Clin Genet. 2019. PMID: 29023665 Review.

7

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. la Cour Sibbesen E, et al. Among authors: jespersgaard c. Am J Med Genet A. 2013 Jun;161A(6):1447-52. doi: 10.1002/ajmg.a.35901. Epub 2013 Apr 30. Am J Med Genet A. 2013. PMID: 23633410

8

Cornelia de Lange syndrome.

Boyle MI, Jespersgaard C, Brøndum-Nielsen K, Bisgaard AM, Tümer Z. Boyle MI, et al. Among authors: jespersgaard c. Clin Genet. 2015 Jul;88(1):1-12. doi: 10.1111/cge.12499. Epub 2014 Oct 28. Clin Genet. 2015. PMID: 25209348 Review.

9

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. Boyle MI, et al. Among authors: jespersgaard c. Gene. 2015 Nov 1;572(1):130-134. doi: 10.1016/j.gene.2015.07.016. Epub 2015 Jul 8. Gene. 2015. PMID: 26164757

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. Jespersgaard C, et al. Mol Cytogenet. 2016 Feb 4;9:11. doi: 10.1186/s13039-016-0220-5. eCollection 2016. Mol Cytogenet. 2016. PMID: 26855673 Free PMC article.

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