Grønskov K - Search Results

1

Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.

Wadt KA, Aoude LG, Krogh L, Sunde L, Bojesen A, Grønskov K, Wartacz N, Ek J, Tolstrup-Andersen M, Klarskov-Andersen M, Borg Å, Heegaard S, Kiilgaard JF, Hansen TV, Klein K, Jönsson G, Drzewiecki KT, Dunø M, Hayward NK, Gerdes AM. Wadt KA, et al. Among authors: gronskov k. PLoS One. 2015 Mar 24;10(3):e0122662. doi: 10.1371/journal.pone.0122662. eCollection 2015. PLoS One. 2015. PMID: 25803691 Free PMC article.

2

Oculocutaneous albinism.

Grønskov K, Ek J, Brondum-Nielsen K. Grønskov K, et al. Orphanet J Rare Dis. 2007 Nov 2;2:43. doi: 10.1186/1750-1172-2-43. Orphanet J Rare Dis. 2007. PMID: 17980020 Free PMC article. Review.

3

Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.

Grønskov K, Ek J, Sand A, Scheller R, Bygum A, Brixen K, Brondum-Nielsen K, Rosenberg T. Grønskov K, et al. Invest Ophthalmol Vis Sci. 2009 Mar;50(3):1058-64. doi: 10.1167/iovs.08-2639. Epub 2008 Dec 5. Invest Ophthalmol Vis Sci. 2009. PMID: 19060277

4

Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy.

Almind GJ, Grønskov K, Milea D, Larsen M, Brøndum-Nielsen K, Ek J. Almind GJ, et al. Among authors: gronskov k. BMC Med Genet. 2011 Apr 4;12:49. doi: 10.1186/1471-2350-12-49. BMC Med Genet. 2011. PMID: 21457585 Free PMC article.

5

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. Almind GJ, et al. Among authors: gronskov k. BMC Med Genet. 2012 Aug 2;13:65. doi: 10.1186/1471-2350-13-65. BMC Med Genet. 2012. PMID: 22857269 Free PMC article.

6

[Genome sequencing--clinical use].

Hertz JM, Gerdes AM, Grønskov K, Thomassen M, Vogel I. Hertz JM, et al. Among authors: gronskov k. Ugeskr Laeger. 2013 Mar 18;175(12):818. Ugeskr Laeger. 2013. PMID: 23582824 Danish. No abstract available.

7

Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism.

Kessel L, Kjer B, Lei U, Duno M, Grønskov K. Kessel L, et al. Among authors: gronskov k. Ophthalmic Genet. 2021 Jun;42(3):230-238. doi: 10.1080/13816810.2021.1881979. Epub 2021 Feb 22. Ophthalmic Genet. 2021. PMID: 33612058

8

Maternal versus paternal inheritance of a 132 bp 11p15.5 microdeletion affecting KCNQ1OT1 and associated phenotypes.

Stoltze UK, Hansen TVO, Brok JS, Grønskov K, Tumer Z, Ahlborn LB, Schmiegelow K, Wadt KAW. Stoltze UK, et al. Among authors: gronskov k. J Med Genet. 2023 Feb;60(2):128-130. doi: 10.1136/jmedgenet-2021-108335. Epub 2022 Jun 30. J Med Genet. 2023. PMID: 35772845 Free PMC article. No abstract available.

9

Germline (epi)genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort.

Stoltze UK, Hildonen M, Hansen TVO, Foss-Skiftesvik J, Byrjalsen A, Lundsgaard M, Pignata L, Grønskov K, Tumer Z, Schmiegelow K, Brok JS, Wadt KAW. Stoltze UK, et al. Among authors: gronskov k. J Med Genet. 2023 Sep;60(9):842-849. doi: 10.1136/jmg-2022-108982. Epub 2023 Apr 5. J Med Genet. 2023. PMID: 37019617 Free PMC article.

10

Expression of insulin receptor spliced variants and their functional correlates in muscle from patients with non-insulin-dependent diabetes mellitus.

Hansen T, Bjørbaek C, Vestergaard H, Grønskov K, Bak JF, Pedersen O. Hansen T, et al. Among authors: gronskov k. J Clin Endocrinol Metab. 1993 Dec;77(6):1500-5. doi: 10.1210/jcem.77.6.8263133. J Clin Endocrinol Metab. 1993. PMID: 8263133

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