Irenaeus F M De Coo
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Explore the profile of Irenaeus F M De Coo including associated specialties, affiliations and a list of published articles.
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46
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Recent Articles
1.
Castelluccio N, Spath K, Li D, De Coo I, Butterworth L, Wells D, et al.
Hum Reprod Update
. 2025 Mar;
PMID: 40085924
Mitochondrial DNA (mtDNA) diseases pose unique challenges for genetic counselling and require tailored approaches to address recurrence risks and reproductive options. The intricate dynamics of mtDNA segregation and heteroplasmy shift...
2.
Groeneweg S, van Geest F, Martin M, Dias M, Frazer J, Medina-Gomez C, et al.
Nat Commun
. 2025 Mar;
16(1):2479.
PMID: 40075072
Predicting and quantifying phenotypic consequences of genetic variants in rare disorders is a major challenge, particularly pertinent for 'actionable' genes such as thyroid hormone transporter MCT8 (encoded by the X-linked...
3.
Vallbona-Garcia A, Lindsey P, Kamps R, Stassen A, Nguyen N, van Tienen F, et al.
Front Ophthalmol (Lausanne)
. 2024 Jul;
3:1309836.
PMID: 38983060
Introduction: Primary open-angle glaucoma (POAG) is a characteristic optic neuropathy, caused by degeneration of the optic nerve-forming neurons, the retinal ganglion cells (RGCs). High intraocular pressure (IOP) and aging have...
4.
Vallbona-Garcia A, Hamers I, van Tienen F, Ochoteco-Asensio J, Berendschot T, De Coo I, et al.
Exp Eye Res
. 2023 May;
232:109500.
PMID: 37178956
Primary open-angle glaucoma (POAG) is characterized by optic nerve degeneration and irreversible loss of retinal ganglion cells (RGCs). The pathophysiology is not fully understood. Since RGCs have a high energy...
5.
De Coo I, Jesse S, Le T, Sala C
Eur J Med Genet
. 2023 Mar;
66(6):104746.
PMID: 36967043
Phelan-McDermid syndrome (PMS) is a 22q13.3 deletion syndrome that presents with a disturbed development, neurological and psychiatric characteristics, and sometimes other comorbidities like seizures. The epilepsy manifests itself in a...
6.
Haast R, De Coo I, Ivanov D, Khan A, Jansen J, Smeets H, et al.
Brain Commun
. 2022 Feb;
4(1):fcac024.
PMID: 35187487
Mutations of the mitochondrial DNA are an important cause of inherited diseases that can severely affect the tissue's homeostasis and integrity. The m.3243A > G mutation is the most commonly...
7.
Bjorkman K, Vissing J, Ostergaard E, Bindoff L, De Coo I, Engvall M, et al.
J Med Genet
. 2021 Dec;
60(1):65-73.
PMID: 34872991
Background: Large-scale mitochondrial DNA deletions (LMD) are a common genetic cause of mitochondrial disease and give rise to a wide range of clinical features. Lack of longitudinal data means the...
8.
Guo L, Engelen B, Hemel I, De Coo I, Vreeburg M, Sallevelt S, et al.
Eur J Hum Genet
. 2021 Aug;
29(12):1789-1795.
PMID: 34426662
In a Dutch non-consanguineous patient having mitochondrial encephalomyopathy with complex I and complex IV deficiency, whole exome sequencing revealed two compound heterozygous variants in SLIRP. SLIRP gene encodes a stem-loop...
9.
Guo L, Govindaraj P, Kievit M, De Coo I, Gerards M, Hellebrekers D, et al.
Neuromuscul Disord
. 2021 Aug;
31(9):859-864.
PMID: 34419324
Whole exome sequencing (WES), analyzed with GENESIS and WeGET, revealed a homozygous deletion in the C1QBP gene in a patient with progressive external ophthalmoplegia (PEO) and multiple mtDNA deletions. The...
10.
Hubens W, Kievit M, Berendschot T, De Coo I, Smeets H, Webers C, et al.
PLoS One
. 2021 May;
16(5):e0252630.
PMID: 34048486
Aim: Recently, the level of growth differentiation factor 15 (GDF-15) in blood, was proposed as biomarker to detect mitochondrial dysfunction. In the current study, we evaluate this biomarker in open-angle...