Tkachenko N - Search Results

1

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.

2

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.

3

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

4

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

5

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.

6

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.

7

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

8

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

9

Rare SUZ12 variants commonly cause an overgrowth phenotype.

Cyrus SS, Cohen ASA, Agbahovbe R, Avela K, Yeung KS, Chung BHY, Luk HM, Tkachenko N, Choufani S, Weksberg R, Lopez-Rangel E; C.A.U.S.E.S. Study; Brown K, Saenz MS, Svihovec S, McCandless SE, Bird LM, Garcia AG, Gambello MJ, McWalter K, Schnur RE, An J, Jones SJM, Bhalla SK, Pinz H, Braddock SR, Gibson WT. Cyrus SS, et al. Among authors: tkachenko n. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):532-547. doi: 10.1002/ajmg.c.31748. Epub 2019 Nov 17. Am J Med Genet C Semin Med Genet. 2019. PMID: 31736240

10

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

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