Mette Bertelsen
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Explore the profile of Mette Bertelsen including associated specialties, affiliations and a list of published articles.
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60
Citations
1147
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Recent Articles
1.
Serey-Gaut M, Balogoun R, Jonard L, Lina-Granade G, Touraine R, Willems M, et al.
Hum Genet
. 2025 Feb;
PMID: 39918572
KITLG pathogenic variants have been associated to three distinct clinical presentations with different combinations of hearing loss and/or pigmentation abnormalities. However, its involvement in isolated hearing loss has not been...
2.
Steensberg A, Ovens C, Fraser C, Malmqvist L, Bertelsen M, Gronskov K, et al.
Ophthalmic Genet
. 2025 Jan;
1-6.
PMID: 39865650
Introduction: Optic disc drusen (ODD) are believed to have a genetic predisposition, with autosomal dominant inheritance pattern with incomplete penetrance suggested through family pedigree analysis. ODD prevalence is higher in...
3.
Steensberg A, Al-Hamdani S, Hansen M, Klefter O, Bertelsen M, Hamann S
Diagnostics (Basel)
. 2025 Jan;
14(24.
PMID: 39767158
We present an image that illustrates long-term visual field progression in patients with X-linked retinitis pigmentosa (XLRP) due to the retinitis pigmentosa GTPase regulator (RPGR) and retinitis pigmentosa 2 protein...
4.
Steensberg A, Malmqvist L, Bertelsen M, Kessel L, Gronskov K, Hamann S
Front Ophthalmol (Lausanne)
. 2024 Dec;
4:1476911.
PMID: 39703328
Introduction: Retinitis pigmentosa (RP) is a group of inherited retinal dystrophies characterized by progressive photoreceptor degeneration. In a recent study, we reported co-existing optic disc drusen (ODD) at 30%, a...
5.
Andersen M, Bertelsen M, Gundestrup S, Gronskov K, Kessel L
Acta Ophthalmol
. 2024 Feb;
102(6):e893-e905.
PMID: 38348755
Purpose: To describe the phenotype of Danish patients with genetically verified achromatopsia (ACHM) with special focus on signs of progression on structural or functional parameters, and possible genotype-phenotype correlations. Methods:...
6.
Steensberg A, Schmidt D, Malmqvist L, Kessel L, Bertelsen M, Gronskov K, et al.
J Neuroophthalmol
. 2023 Nov;
44(4):483-487.
PMID: 37976142
Background: Studies of patients with retinitis pigmentosa (RP) have reported an increased prevalence of optic disc drusen (ODD) compared with the ODD prevalence in the general population. The diagnostic gold...
7.
Lildballe D, Frederiksen A, Schonewolf-Greulich B, Brasch-Andersen C, Lautrup C, Karstensen H, et al.
Eur J Med Genet
. 2023 Nov;
66(12):104872.
PMID: 37967791
Genetic conditions are often familial, but not all relatives receive counseling from the same institution. It is therefore necessary to ensure consistency in variant interpretation, counseling practices, and clinical follow...
8.
Lisbjerg K, Bertelsen M, Gronskov K, Kessel L
Ophthalmic Genet
. 2023 Jun;
44(5):456-464.
PMID: 37293790
Background/aim: To describe the clinical phenotype of retinitis pigmentosa (RP) caused by -variants and clinical characterization of asymptomatic carriers. Materials And Methods: We conducted a descriptive cross-sectional deep phenotyping study....
9.
Andersen M, Bertelsen M, Gronskov K, Kohl S, Kessel L
Genes (Basel)
. 2023 Mar;
14(3).
PMID: 36980963
Achromatopsia is a rare congenital condition with cone photoreceptor dysfunction causing color blindness, reduced vision, nystagmus and photophobia. New treatments are being developed, but the current evidence is still conflicting...
10.
Lisbjerg K, Gronskov K, Bertelsen M, Moller L, Kessel L
Genes (Basel)
. 2023 Feb;
14(2).
PMID: 36833363
(1) Background/aims: To examine potential genetic modifiers of disease penetrance in -associated retinitis pigmentosa 11 (RP11). (2) Methods: Blood samples from individuals (n = 37) with variants believed to be...