Konstantina Kosma
Overview
Explore the profile of Konstantina Kosma including associated specialties, affiliations and a list of published articles.
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Articles
37
Citations
651
Followers
0
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Recent Articles
1.
Marinakis N, Tilemis F, Veltra D, Svingou M, Sofocleous C, Kekou K, et al.
Eur J Hum Genet
. 2024 Nov;
33(1):65-71.
PMID: 39488673
The development of high-throughput technologies has enabled Expanded Carrier screening (ECS) as a more comprehensive and extensive approach for high-risk populations. The available methods of ECS are population-targeted gene-panels according...
2.
Mitrakos A, Kosma K, Makrythanasis P, Tzetis M
Genes (Basel)
. 2024 Aug;
15(8).
PMID: 39202413
The human 16p11.2 chromosomal region is rich in segmental duplications which mediate the formation of recurrent CNVs. CNVs affecting the 16p11.2 region are associated with an increased risk for developing...
3.
Christodoulaki V, Kosma K, Marinakis N, Tilemis F, Stergiou N, Kampouraki A, et al.
Genes (Basel)
. 2024 Aug;
15(8).
PMID: 39202375
Alport syndrome (AS) is a hereditary glomerulopathy due to pathogenic variants in , , and Treatment with Renin-Angiotensin-Aldosterone System (RAAS) inhibitors can delay progression to end stage renal disease (ESRD)....
4.
Layo-Carris D, Lubin E, Sangree A, Clark K, Durham E, Gonzalez E, et al.
Eur J Hum Genet
. 2024 Jul;
32(8):1032.
PMID: 39060653
No abstract available.
5.
Veltra D, Marinakis N, Kotsios I, Delaporta P, Kekou K, Kosma K, et al.
Children (Basel)
. 2024 Jun;
11(6).
PMID: 38929284
Shwachman Diamond Syndrome (SDS) is a multi-system disease characterized by exocrine pancreatic insufficiency with malabsorption, infantile neutropenia and aplastic anemia. Life-threatening complications include progression to acute myeloid leukemia (AML) or...
6.
Veltra D, Theodorou V, Katsalouli M, Vorgia P, Niotakis G, Tsaprouni T, et al.
Int J Mol Sci
. 2024 Jun;
25(11).
PMID: 38891831
, the gene encoding for the Nav1.1 channel, exhibits dominant interneuron-specific expression, whereby variants disrupting the channel's function affect the initiation and propagation of action potentials and neuronal excitability causing...
7.
Marinakis N, Svingou M, Papadimas G, Papadopoulos C, Chroni E, Pons R, et al.
Muscle Nerve
. 2024 Jun;
70(2):240-247.
PMID: 38855810
Introduction/aims: Myotonia congenita (MC) is the most common hereditary channelopathy in humans. Characterized by muscle stiffness, MC may be transmitted as either an autosomal dominant (Thomsen) or a recessive (Becker)...
8.
Layo-Carris D, Lubin E, Sangree A, Clark K, Durham E, Gonzalez E, et al.
Eur J Hum Genet
. 2024 Apr;
32(8):928-937.
PMID: 38678163
Bryant-Li-Bhoj syndrome (BLBS), which became OMIM-classified in 2022 (OMIM: 619720, 619721), is caused by germline variants in the two genes that encode histone H3.3 (H3-3A/H3F3A and H3-3B/H3F3B) [1-4]. This syndrome...
9.
Brunet T, Zott B, Lieftuchter V, Lenz D, Schmidt A, Peters P, et al.
Genet Med
. 2023 Nov;
26(2):101013.
PMID: 37924258
Purpose: RNF213, encoding a giant E3 ubiquitin ligase, has been recognized for its role as a key susceptibility gene for moyamoya disease. Case reports have also implicated specific variants in...
10.
Mitrakos A, Kosma K, Makrythanasis P, Tzetis M
Genes (Basel)
. 2023 Aug;
14(8).
PMID: 37628571
Chromosomal microarray analysis (CMA) is considered a first-tier test for patients with developmental disabilities and congenital anomalies and is also routinely applied in prenatal diagnosis. The current consensus size cut-off...