Grønskov K - Search Results

1

A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia.

Roos L, Fang M, Dali C, Jensen H, Christoffersen N, Wu B, Zhang J, Xu R, Harris P, Xu X, Grønskov K, Tümer Z. Roos L, et al. Among authors: gronskov k. Clin Genet. 2014 Sep;86(3):276-81. doi: 10.1111/cge.12277. Epub 2013 Oct 25. Clin Genet. 2014. PMID: 24024553

2

Recent Advances in Imprinting Disorders.

Soellner L, Begemann M, Mackay DJ, Grønskov K, Tümer Z, Maher ER, Temple IK, Monk D, Riccio A, Linglart A, Netchine I, Eggermann T. Soellner L, et al. Among authors: gronskov k. Clin Genet. 2017 Jan;91(1):3-13. doi: 10.1111/cge.12827. Epub 2016 Aug 4. Clin Genet. 2017. PMID: 27363536 Review.

3

Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care.

Eggermann T, Netchine I, Temple IK, Tümer Z, Monk D, Mackay D, Grønskov K, Riccio A, Linglart A, Maher ER. Eggermann T, et al. Among authors: gronskov k. Clin Epigenetics. 2015 Mar 14;7(1):23. doi: 10.1186/s13148-015-0050-z. eCollection 2015. Clin Epigenetics. 2015. PMID: 25784961 Free PMC article. Review.

4

Macular retinal nerve fiber layer thickness in retinitis pigmentosa patients with and without optic disc drusen.

Steensberg AH, Malmqvist L, Bertelsen M, Kessel L, Grønskov K, Hamann S. Steensberg AH, et al. Among authors: gronskov k. Front Ophthalmol (Lausanne). 2024 Dec 5;4:1476911. doi: 10.3389/fopht.2024.1476911. eCollection 2024. Front Ophthalmol (Lausanne). 2024. PMID: 39703328 Free PMC article.

5

Concomitant Upd(14)mat and Trisomy 14 Mosaicism in a Newborn Detected by Whole Genome Sequencing.

Olsen T, Ek J, Bak M, Grønskov K, Bache I, Farholt S, Tümer Z. Olsen T, et al. Among authors: gronskov k. Clin Genet. 2024 Dec 12. doi: 10.1111/cge.14676. Online ahead of print. Clin Genet. 2024. PMID: 39667803

6

A novel GFAP frameshift variant identified in a family with optico-retinal dysplasia and vision impairment.

Sarusie MVK, Rönnbäck C, Jespersgaard C, Baungaard S, Ali Y, Kessel L, Christensen ST, Brøndum-Nielsen K, Møllgård K, Rosenberg T, Larsen LA, Grønskov K. Sarusie MVK, et al. Among authors: gronskov k. Hum Mol Genet. 2024 Dec 6;33(24):2145-2158. doi: 10.1093/hmg/ddae134. Hum Mol Genet. 2024. PMID: 39471354

7

Phenotypic characteristics of Danish patients with achromatopsia.

Andersen MKG, Bertelsen M, Gundestrup S, Grønskov K, Kessel L. Andersen MKG, et al. Among authors: gronskov k. Acta Ophthalmol. 2024 Sep;102(6):e893-e905. doi: 10.1111/aos.16656. Epub 2024 Feb 13. Acta Ophthalmol. 2024. PMID: 38348755

8

Long-term risk of glaucoma after cataract surgery in childhood.

Schmidt DC, Eriksson F, Bach-Holm D, Grønskov K, Kessel L. Schmidt DC, et al. Among authors: gronskov k. Acta Ophthalmol. 2024 Sep;102(6):667-673. doi: 10.1111/aos.16636. Epub 2024 Jan 17. Acta Ophthalmol. 2024. PMID: 38233733

9

Optic Disc Drusen Prevalence in Patients With Retinitis Pigmentosa: A Cross-Sectional Study.

Steensberg AH, Schmidt DC, Malmqvist L, Kessel L, Bertelsen M, Grønskov K, Hamann S. Steensberg AH, et al. Among authors: gronskov k. J Neuroophthalmol. 2023 Nov 17. doi: 10.1097/WNO.0000000000002038. Online ahead of print. J Neuroophthalmol. 2023. PMID: 37976142

10

Clinical characterization of patients with PRPF31-related retinitis pigmentosa and asymptomatic carriers: a cross-sectional study.

Lisbjerg K, Bertelsen M, Grønskov K, Kessel L. Lisbjerg K, et al. Among authors: gronskov k. Ophthalmic Genet. 2023 Oct;44(5):456-464. doi: 10.1080/13816810.2023.2219732. Epub 2023 Jun 9. Ophthalmic Genet. 2023. PMID: 37293790

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