Tkachenko N - Search Results

1

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. 2023 Dec 5. doi: 10.1038/s41390-023-02943-1. Online ahead of print. Pediatr Res. 2023. PMID: 38052860

2

Clinical and Laboratory Findings on Glycogen Storage Disease Type V: Results from a Retrospective Observational Study in a Tertiary Hospital.

Pereira Â, Diogo da Silva J, Soares AR, Guimas A, Rocha S, Cardoso M, Garrido C, Azevedo Soares C, Nunes I, Maria Fortuna A, Quelhas D, Figueiroa S, Ribeiro R, Santos M, Martins E, Tkachenko N. Pereira Â, et al. Among authors: tkachenko n. Endocr Metab Immune Disord Drug Targets. 2023 Sep 14. doi: 10.2174/1871530323666230914122936. Online ahead of print. Endocr Metab Immune Disord Drug Targets. 2023. PMID: 37711120

3

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

4

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.

5

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.

6

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

7

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.

8

Telehealth in genetic counselling consultations: the impact of COVID-19 in a Portuguese genetic healthcare service.

Dantas MAA, Da Silva JD, Tkachenko N, Paneque M. Dantas MAA, et al. Among authors: tkachenko n. J Community Genet. 2023 Feb;14(1):91-100. doi: 10.1007/s12687-022-00618-8. Epub 2022 Nov 22. J Community Genet. 2023. PMID: 36414926 Free PMC article.

9

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.

10

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

316 results

Search Page