Ligia Mateiu
Overview
Explore the profile of Ligia Mateiu including associated specialties, affiliations and a list of published articles.
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25
Citations
382
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Recent Articles
1.
Huyghebaert J, Christiaenssen B, De Rademaeker M, Van den Ende J, Vandeweyer G, Kooy R, et al.
Eur J Med Genet
. 2025 Mar;
75:105009.
PMID: 40057302
In this study, we employed a multifaceted approach combining short-read whole genome sequencing (WGS) analyzed using Delly, cytogenomics using Bionano technology, and Sanger sequencing to identify the breakpoints of a...
2.
Terrones M, Op de Beeck K, Van Camp G, Vandeweyer G, Mateiu L
Front Oncol
. 2024 Dec;
14:1408697.
PMID: 39737401
Introduction: The transcriptomic characteristics of + non-small cell lung cancer (NSCLC) represent a crucial aspect of its tumor biology. These features provide valuable insights into key dysregulated pathways, potentially leading...
3.
DIncal C, Van Dijck A, Ibrahim J, Man K, Bastini L, Konings A, et al.
Acta Neuropathol Commun
. 2024 Oct;
12(1):168.
PMID: 39449121
No abstract available.
4.
Thys L, Beysen D, Ceulemans B, Kenis S, Dielman C, Roelens F, et al.
Pediatr Neurol
. 2024 Aug;
161:1-8.
PMID: 39213953
Background: Cerebral palsy (CP) is the most frequent cause of motor impairment in children. Although perinatal asphyxia was long considered to be the leading cause of CP, recent studies demonstrate...
5.
Theys C, Vanderhaeghen T, Van Dijck E, Peleman C, Scheepers A, Ibrahim J, et al.
Front Mol Med
. 2024 Aug;
3:1283170.
PMID: 39086681
Metabolic Dysfunction Associated Steatotic Liver Disease (MASLD) is a growing epidemic with an estimated prevalence of 20%-30% in Europe and the most common cause of chronic liver disease worldwide. The...
6.
DIncal C, Van Dijck A, Ibrahim J, Man K, Bastini L, Konings A, et al.
Acta Neuropathol Commun
. 2024 Apr;
12(1):62.
PMID: 38637827
Background: Helsmoortel-Van der Aa syndrome is a neurodevelopmental disorder in which patients present with autism, intellectual disability, and frequent extra-neurological features such as feeding and gastrointestinal problems, visual impairments, and...
7.
DIncal C, Annear D, Elinck E, van der Smagt J, Alders M, Dingemans A, et al.
Eur J Hum Genet
. 2024 Feb;
32(6):630-638.
PMID: 38424297
Mutations in ADNP result in Helsmoortel-Van der Aa syndrome. Here, we describe the first de novo intronic deletion, affecting the splice-acceptor site of the first coding ADNP exon in a...
8.
Huyghebaert J, Mateiu L, Elinck E, Van Rossem K, Christiaenssen B, DIncal C, et al.
Eur J Hum Genet
. 2024 Jan;
32(3):317-323.
PMID: 38273165
Here, we identified the causal mutation in the MRX20 family, one of the larger X-linked pedigrees that have been described in which no gene had been identified up till now....
9.
Hendrickx G, Boudin E, Mateiu L, Yorgan T, Steenackers E, Kneissel M, et al.
Calcif Tissue Int
. 2023 Dec;
114(2):171-181.
PMID: 38051321
Pathogenic variants disrupting the binding between sclerostin (encoded by SOST) and its receptor LRP4 have previously been described to cause sclerosteosis, a rare high bone mass disorder. The sclerostin-LRP4 complex...
10.
Theys C, Ibrahim J, Mateiu L, Mposhi A, Garcia-Pupo L, De Pooter T, et al.
Int J Mol Sci
. 2023 Nov;
24(22).
PMID: 38003603
Metabolic dysfunction-associated steatotic liver disease (MASLD) is characterized by a constant accumulation of lipids in the liver. This hepatic lipotoxicity is associated with a dysregulation of the first step in...