Tinatin Tkemaladze
Overview
Explore the profile of Tinatin Tkemaladze including associated specialties, affiliations and a list of published articles.
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23
Citations
50
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Recent Articles
1.
Hennocq Q, Lienhard O, Rao D, Amiel J, Benichou L, Bongibault T, et al.
Clin Genet
. 2024 Dec;
PMID: 39726094
Diagnostic wandering and delayed management are major issues in rare diseases. Here, we report a new Next-Generation Phenotyping (NGP) model for diagnosing Coffin Siris syndrome (CSS) on clinical photographs among...
2.
Bregvadze K, Abashishvili L, Tatishvili N, Shatirishvili T, Bedoshvili A, Chikvinidze G, et al.
Front Genet
. 2024 Dec;
15:1502444.
PMID: 39720178
Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder caused by mutations in , with disease severity influenced by the number of copies. Although SMA is one of the most...
3.
Kaiyrzhanov R, Zharkinbekova N, Guliyeva U, Ganieva M, Tavadyan Z, Gachechiladze T, et al.
Nat Genet
. 2024 Nov;
56(12):2582-2584.
PMID: 39578646
No abstract available.
4.
Delgado-Vega A, Cederroth H, Taylan F, Ekholm K, Ek M, Thonberg H, et al.
Nat Genet
. 2024 Oct;
56(11):2287-2294.
PMID: 39433890
No abstract available.
5.
Bregvadze K, Sukhiashvili A, Lartsuliani M, Melikidze E, Tkemaladze T
SAGE Open Med Case Rep
. 2024 Sep;
12:2050313X241277123.
PMID: 39224759
The cohesin protein complex plays a vital role in various cellular processes such as sister chromatid cohesion, chromosome condensation, DNA repair, and transcriptional regulation. It is constituted by SMC1, SMC3,...
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7.
Lesmann H, Hustinx A, Moosa S, Klinkhammer H, Marchi E, Caro P, et al.
Res Sq
. 2024 Jun;
PMID: 38903062
The most important factor that complicates the work of dysmorphologists is the significant phenotypic variability of the human face. Next-Generation Phenotyping (NGP) tools that assist clinicians with recognizing characteristic syndromic...
8.
Tvergaard N, Tkemaladze T, Stodberg T, Kvarnung M, Tatton-Brown K, Baralle D, et al.
Clin Genet
. 2024 Jun;
106(4):427-436.
PMID: 38890806
Ionotropic glutamate receptors (iGluRs), specifically α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid receptors (AMPARs), play a crucial role in orchestrating excitatory neurotransmission in the brain. AMPARs are intricate assemblies of subunits encoded by four...
9.
Bayat A, Grimes H, de Boer E, Herlin M, Dahl R, Lund I, et al.
Genet Med
. 2024 May;
26(8):101170.
PMID: 38818797
Purpose: KBG syndrome (KBGS) is a rare neurodevelopmental syndrome caused by haploinsufficiency of ANKRD11. The childhood phenotype is extensively reported but limited for adults. Thus, we aimed to delineate the...
10.
Bregvadze K, Jabeen S, Rafi S, Tkemaladze T
SAGE Open Med Case Rep
. 2024 Apr;
12:2050313X241245317.
PMID: 38585419
Germline pathogenic variants found in the phosphatase and tensin homolog gene are associated with a range of rare syndromes that collectively fall under the umbrella of phosphatase and tensin homolog...