Tkachenko N - Search Results

1

Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome.

Maia N, Nabais Sá MJ, Tkachenko N, Soares G, Marques I, Rodrigues B, Fortuna AM, Santos R, de Brouwer APM, Jorge P. Maia N, et al. Among authors: tkachenko n. Mol Syndromol. 2017 Dec;9(1):45-51. doi: 10.1159/000479177. Epub 2017 Aug 29. Mol Syndromol. 2017. PMID: 29456483 Free PMC article.

2

Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder?

Maia N, Nabais Sá MJ, Oliveira C, Santos F, Soares CA, Prior C, Tkachenko N, Santos R, de Brouwer APM, Jacome A, Porto B, Jorge P. Maia N, et al. Among authors: tkachenko n. Genes (Basel). 2021 Dec 28;13(1):78. doi: 10.3390/genes13010078. Genes (Basel). 2021. PMID: 35052418 Free PMC article.

3

Refining the Clinical Spectrum of the 17p13.3 Microduplication Syndrome: Case-Report of a Familial Small Microduplication.

Da Silva JD, Gonzaga D, Barreta A, Correia H, Fortuna AM, Soares AR, Tkachenko N. Da Silva JD, et al. Among authors: tkachenko n. Biomedicines. 2022 Nov 30;10(12):3078. doi: 10.3390/biomedicines10123078. Biomedicines. 2022. PMID: 36551834 Free PMC article.

4

A Novel Frameshift CHD4 Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial t(17;19) and a Large dup(2)(q14.3q21.1).

Da Silva JD, Oliva-Teles N, Tkachenko N, Fino J, Marques M, Fortuna AM, David D. Da Silva JD, et al. Among authors: tkachenko n. Biomedicines. 2022 Dec 21;11(1):12. doi: 10.3390/biomedicines11010012. Biomedicines. 2022. PMID: 36672520 Free PMC article.

5

An SPG7 mutation as a novel cause of monogenic progressive muscular atrophy.

Pereira Â, Tkachenko N, Fortuna AM, Alonso I, Cardoso M, Da Silva JD. Pereira Â, et al. Among authors: tkachenko n. Neurol Sci. 2023 Sep;44(9):3303-3305. doi: 10.1007/s10072-023-06867-w. Epub 2023 May 22. Neurol Sci. 2023. PMID: 37213040

6

Diagnostic accuracy and the first genotype-phenotype correlation in glycogen storage disease type V.

Da Silva JD, Pereira Â, Soares AR, Guimas A, Rocha S, Cardoso M, Garrido C, Soares CA, Nunes IS, Fortuna AM, Quelhas D, Figueiroa S, Ribeiro R, Santos M, Martins E, Tkachenko N. Da Silva JD, et al. Among authors: tkachenko n. Pediatr Res. 2024 Jul;96(2):365-371. doi: 10.1038/s41390-023-02943-1. Epub 2023 Dec 5. Pediatr Res. 2024. PMID: 38052860

7

Establishing an objective clinical spectrum, genotype-phenotype correlations, and CRMP1 as a modifier in the Ellis-van Creveld syndrome: The first systematic review of EVC- and EVC2-associated conditions.

Da Silva JD, Soares AR, Fortuna AM, Tkachenko N. Da Silva JD, et al. Among authors: tkachenko n. Genet Med Open. 2023 Mar 13;1(1):100781. doi: 10.1016/j.gimo.2023.100781. eCollection 2023. Genet Med Open. 2023. PMID: 39669252 Free PMC article. Review.

8

Enhancing clinical decision-making for CNVs of uncertain significance in neurodevelopmental disorders: the relevance (or uselessness) of scoring and segregating.

Da Silva JD, Maia N, Jorge P, Sousa V, Tkachenko N, Soares AR. Da Silva JD, et al. Among authors: tkachenko n. J Med Genet. 2025 Mar 20;62(4):298-302. doi: 10.1136/jmg-2024-110144. J Med Genet. 2025. PMID: 39956615

9

Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly.

Uguen K, Krysiak K, Audebert-Bellanger S, Redon S, Benech C, Viora-Dupont E, Tran Mau-Them F, Rondeau S, Elsharkawi I, Granadillo JL, Neidich J, Soares CA, Tkachenko N, M Amudhavalli S, Engleman K, Boland A, Deleuze JF, Bezieau S, Odent S, Toutain A, Bonneau D, Gilbert-Dussardier B, Faivre L, Rio M, Le Marechal C, Ferec C, Repnikova E, Cao Y. Uguen K, et al. Among authors: tkachenko n. Clin Genet. 2021 Oct;100(4):386-395. doi: 10.1111/cge.14015. Epub 2021 Jun 28. Clin Genet. 2021. PMID: 34164801

10

Impact of Structural GLA Protein Changes on Peripheral GLA Activity and Substrate Accumulation in Fabry Disease Patients.

Da Silva JD, Ribeiro I, Caseiro C, Pinto E, Rocha S, Ribeiro H, Ferreira C, Silva E, Laranjeira F, Tkachenko N, Lacerda L, Quelhas D. Da Silva JD, et al. Among authors: tkachenko n. Endocr Metab Immune Disord Drug Targets. 2023 Sep 14. doi: 10.2174/1871530323666230914114414. Online ahead of print. Endocr Metab Immune Disord Drug Targets. 2023. PMID: 37711123

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