The neuronal ceroid lipofuscinosis type 2 - associated variants: An analysis of alterations in the TPP1 gene and genotype-phenotype correlation in Ukraine.

Autor: Olkhovych N; Department of Genetic Diagnostics National Scientific Center, Institute of Cardiology, Clinical and Regenerative Medicine M.D. Strazheska, National Academy of Medical Sciences of Ukraine Kyiv Ukraine.; Laboratory of Medical Genetics National Children's Hospital OHMATDYT, Ministry of Health of Ukraine Kyiv Ukraine., Pichkur N; Department of Genetic Diagnostics National Scientific Center, Institute of Cardiology, Clinical and Regenerative Medicine M.D. Strazheska, National Academy of Medical Sciences of Ukraine Kyiv Ukraine.; Laboratory of Medical Genetics National Children's Hospital OHMATDYT, Ministry of Health of Ukraine Kyiv Ukraine., Mytsyk N; Department of Genetic Diagnostics National Scientific Center, Institute of Cardiology, Clinical and Regenerative Medicine M.D. Strazheska, National Academy of Medical Sciences of Ukraine Kyiv Ukraine.; Laboratory of Medical Genetics National Children's Hospital OHMATDYT, Ministry of Health of Ukraine Kyiv Ukraine., Tonin R; Laboratory of Molecular Biology of Neurometabolic Diseases, Neuroscience Department Meyer Children's Hospital (AOU Meyer - IRCCS) Firenze Italy., Kormoz S; Laboratory of Medical Genetics National Children's Hospital OHMATDYT, Ministry of Health of Ukraine Kyiv Ukraine., Hregul I; Laboratory of Medical Genetics National Children's Hospital OHMATDYT, Ministry of Health of Ukraine Kyiv Ukraine., Samonenko N; Laboratory of Medical Genetics National Children's Hospital OHMATDYT, Ministry of Health of Ukraine Kyiv Ukraine.; Department of Medical and Laboratory Genetics National University of Health named after P.L.Shupika Kyiv Ukraine., Shklyarskaya T; Laboratory of Medical Genetics National Children's Hospital OHMATDYT, Ministry of Health of Ukraine Kyiv Ukraine., Olkhovych V; Department of Genetic Diagnostics National Scientific Center, Institute of Cardiology, Clinical and Regenerative Medicine M.D. Strazheska, National Academy of Medical Sciences of Ukraine Kyiv Ukraine., Buryak O; Department of Genetic Diagnostics National Scientific Center, Institute of Cardiology, Clinical and Regenerative Medicine M.D. Strazheska, National Academy of Medical Sciences of Ukraine Kyiv Ukraine., Morrone A; Laboratory of Molecular Biology of Neurometabolic Diseases, Neuroscience Department Meyer Children's Hospital (AOU Meyer - IRCCS) Firenze Italy.; Department of Neurosciences, Psychology, Drug Research and Child Health University of Florence Firenze Italy., Gorovenko N; Department of Genetic Diagnostics National Scientific Center, Institute of Cardiology, Clinical and Regenerative Medicine M.D. Strazheska, National Academy of Medical Sciences of Ukraine Kyiv Ukraine.; Department of Medical and Laboratory Genetics National University of Health named after P.L.Shupika Kyiv Ukraine.

Publikováno v: JIMD reports [JIMD Rep] 2024 May 14; Vol. 65 (4), pp. 272-279. Date of Electronic Publication: 2024 May 14 (Print Publication: 2024).

LEIDEN MUTATION (RS6025) IN A SEVERE COVID-19 PNEUMONIA PATIENT WITH DOWN SYNDROME: A CLINICAL CASE.

Autor: Pokhylko, V. I., Cherniavska, Y. I., Fishchuk, L. Y., Rossokha, Z. I., Ievseienkova, O. G., Dubitska, O. M., Popova, O. F., Fastovets, M. M., Kaliuzhka, O. O., Gorovenko, N. G.

Publikováno v: Medical Perspectives / Medičnì Perspektivi; 2023, Vol. 28 Issue 4, p226-232, 7p

Hypermethylation of the BRCA2 gene promoter and its co-hypermethylation with the BRCA1 gene promoter in patients with breast cancer.

Autor: Fishchuk L; State Institution 'Reference-Center for Molecular Diagnostics of Public Health Ministry of Ukraine', Kyiv, Ukraine., Rossokha Z; State Institution 'Reference-Center for Molecular Diagnostics of Public Health Ministry of Ukraine', Kyiv, Ukraine., Lobanova O; Department of Oncology, Bogomolets National Medical University, Kyiv, Ukraine., Cheshuk V; Department of Oncology, Bogomolets National Medical University, Kyiv, Ukraine., Vereshchako R; Department of Oncology, Bogomolets National Medical University, Kyiv, Ukraine., Vershyhora V; State Institution 'Reference-Center for Molecular Diagnostics of Public Health Ministry of Ukraine', Kyiv, Ukraine., Medvedieva N; State Institution 'Reference-Center for Molecular Diagnostics of Public Health Ministry of Ukraine', Kyiv, Ukraine., Dubitskaa O, Gorovenko N; Department of Medical and Laboratory Genetics, Shupyk National Healthcare University of Ukraine, Kyiv, Ukraine.

Publikováno v: Cancer biomarkers : section A of Disease markers [Cancer Biomark] 2024; Vol. 40 (3-4), pp. 275-283.

Associations of variants of folate cycle genes with features of the clinical course of severe intraventricular hemorrhages in premature infants.

Autor: Fishchuk, L., Rossokha, Z., Pokhylko, V., Cherniavska, Yu., Popova, O., Tsvirenko, S., Gorovenko, N.

Publikováno v: Journal of Neonatal - Perinatal Medicine; 2022, Vol. 15 Issue 3, p545-551, 7p

Universal newborn screening for spinal muscular atrophy in Ukraine.

Autor: Olkhovych N; National Specialized Children's Hospital Okhmatdyt, Kyiv, Ukraine., Gorovenko N; Department of Medical and Laboratory Genetics, National University PL Shupik, Kyiv, Ukraine., Servais L; MDUK Oxford Neuromuscular Centre and NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford OX3 9DU, UK; Neuromuscular Reference Center, Department of Paediatrics, University Hospital of Liege and University of La Citadelle, Liege, Belgium. Electronic address: laurent.servais@paediatrics.ox.ac.uk.

Publikováno v: Lancet (London, England) [Lancet] 2023 Jul 22; Vol. 402 (10398), pp. 288-289.