A case of Joubert syndrome caused by novel compound heterozygous variants in the TMEM67 gene.

Autor: Kozina AA; Department of Medical Genomics Group, Institute of Biomedical Chemistry, Moscow, Russia.; Department of Science, Genotek Ltd., Moscow, Russia., Kanaeva GK; Medical Center Unity, Makhachkala, Russia., Baryshnikova NV; Department of General and Medical Genetics, Pirogov Russian National Research Medical University, Moscow, Russia.; Department of Science, Genotek Ltd., Moscow, Russia., Ilinskaya AY; Research Department, Eligens SIA, Marupes, Latvia., Kim AA; Department of Science, Genotek Ltd., Moscow, Russia., Erofeeva AV; Department of Science, Genotek Ltd., Moscow, Russia., Pogodina NA; Department of Science, Genotek Ltd., Moscow, Russia., Gadzhiyeva JP; Medical Center Unity, Makhachkala, Russia., Surkova EI; Department of Science, Genotek Ltd., Moscow, Russia., Ilinsky VV; Research Department, Eligens SIA, Marupes, Latvia.

Publikováno v: The Journal of international medical research [J Int Med Res] 2023 Oct; Vol. 51 (10), pp. 3000605231206294.

Detection of T-cadherin expression in mouse embryos

Autor: Smutova Va, Veronika Yu. Sysoeva, David G. Wilkinson, M. L. Semenova, Surkova Ei, Kseniya A. Rubina, E. V. Semina, Sebastian S. Gerety, Alexei Poliakov, Vsevolod A. Tkachuk

Publikováno v: Acta Naturae (англоязычная версия).

The aim of the present study was to evaluate T-cadherin expression at the early developmental stages of the mouse embryo. Using in situ hybridization and immunofluorescent staining of whole embryos in combination with confocal microscopy, we found th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbe8b30f3f50c750d1c859ff4736a447
http://cyberleninka.ru/article/n/detection-of-t-cadherin-expression-in-mouse-embryos

Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers.

Autor: Kozina AA; Institute of Biomedical Chemistry, Moscow, Russia.; Pirogov Russian National Research Medical University, Moscow, Russia., Okuneva EG; Genotek Ltd., Moscow, Russia., Baryshnikova NV; Pirogov Russian National Research Medical University, Moscow, Russia.; Genotek Ltd., Moscow, Russia., Kondakova OB; Scientific and Practical Centre of Pediatric Psychoneurology of Moscow Healthcare Department, Moscow, Russia., Nikolaeva EA; Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University, Moscow, Russia., Fedoniuk ID; Russian Children's Clinical Hospital, Moscow, Russia., Mikhailova SV; Russian Children's Clinical Hospital, Moscow, Russia., Krasnenko AY; Genotek Ltd., Moscow, Russia., Stetsenko IF; Genotek Ltd., Moscow, Russia., Plotnikov NA; Genotek Ltd., Moscow, Russia., Klimchuk OI; Genotek Ltd., Moscow, Russia., Popov YV; Genotek Ltd., Moscow, Russia., Surkova EI; Genotek Ltd., Moscow, Russia., Shatalov PA; Genotek Ltd., Moscow, Russia.; Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University, Moscow, Russia., Rakitko AS; Genotek Ltd., Moscow, Russia.; Faculty of Mechanics and Mathematics, Lomonosov Moscow State University, Moscow, Russia., Ilinsky VV; Institute of Biomedical Chemistry, Moscow, Russia.; Pirogov Russian National Research Medical University, Moscow, Russia.; Genotek Ltd., Moscow, Russia.; Vavilov Institute of General Genetics, Moscow, Russia.

Publikováno v: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Jul; Vol. 8 (7), pp. e1228. Date of Electronic Publication: 2020 May 15.

A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report.

Autor: Okuneva EG; Genotek Ltd., Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia., Kozina AA; Institute of Biomedical Chemistry, Pogodinskaya street 10 building 8, 119121, Moscow, Russia., Baryshnikova NV; Genotek Ltd., Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia.; Pirogov Russian National Research Medical University, Ostrovitianova street 1, 117997, Moscow, Russia., Krasnenko AY; Genotek Ltd., Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia.; Pirogov Russian National Research Medical University, Ostrovitianova street 1, 117997, Moscow, Russia., Tsukanov KY; Genotek Ltd., Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia., Klimchuk OI; Genotek Ltd., Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia., Surkova EI; Genotek Ltd., Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia. esurkova@genotek.ru., Ilinsky VV; Pirogov Russian National Research Medical University, Ostrovitianova street 1, 117997, Moscow, Russia.; Vavilov Institute of General Genetics, Gubkina street 3, 119333, Moscow, Russia.

Publikováno v: BMC dermatology [BMC Dermatol] 2019 Jan 31; Vol. 19 (1), pp. 4. Date of Electronic Publication: 2019 Jan 31.

A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report.

Autor: Kozina AA; Institute of Biomedical Chemistry, Pogodinskaya street 10 building 8, 119121, Moscow, Russia.; Genotek Ltd, Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia., Okuneva EG; Genotek Ltd, Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia., Baryshnikova NV; Genotek Ltd, Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia.; Pirogov Russian National Research Medical University, Ostrovitianova street 1, 117997, Moscow, Russia., Krasnenko AY; Genotek Ltd, Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia.; Pirogov Russian National Research Medical University, Ostrovitianova street 1, 117997, Moscow, Russia., Tsukanov KY; Genotek Ltd, Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia., Klimchuk OI; Genotek Ltd, Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia., Kondakova OB; Scientific and Practical Centre of Pediatric psychoneurology of Moscow Healthcare Department, Michurinsky prospect, 74, 119602, Moscow, Russia., Larionova AN; Scientific and Practical Centre of Pediatric psychoneurology of Moscow Healthcare Department, Michurinsky prospect, 74, 119602, Moscow, Russia., Batysheva TT; Scientific and Practical Centre of Pediatric psychoneurology of Moscow Healthcare Department, Michurinsky prospect, 74, 119602, Moscow, Russia., Surkova EI; Genotek Ltd, Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia. esurkova@genotek.ru., Shatalov PA; Genotek Ltd, Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia.; Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University, Taldomskaya str 2, 125412, Moscow, Russia., Ilinsky VV; Institute of Biomedical Chemistry, Pogodinskaya street 10 building 8, 119121, Moscow, Russia.; Genotek Ltd, Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia.; Pirogov Russian National Research Medical University, Ostrovitianova street 1, 117997, Moscow, Russia.; Vavilov Institute of General Genetics, Gubkina street 3, 119333, Moscow, Russia.

Publikováno v: BMC medical genetics [BMC Med Genet] 2018 Aug 25; Vol. 19 (1), pp. 151. Date of Electronic Publication: 2018 Aug 25.