Zobrazeno 1 - 10
of 102
pro vyhledávání: '"L A, Nazarenko"'
Autor:
T. V. Karamysheva, I. N. Lebedev, L. I. Minaycheva, L. P. Nazarenko, A. A. Kashevarova, D. A. Fedotov, N. A. Skryabin, M. E. Lopatkina, A. D. Cheremnykh, E. A. Fonova, T. V. Nikitina, E. A. Sazhenova, M. M. Skleimova, N. A. Kolesnikov, G. V. Drozdov, Y. S. Yakovleva, G. N. Seitova, K. E. Orishchenko, N. B. Rubtsov
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Pallister-Killian syndrome (PKS) is a rare inherited disease with multiple congenital anomalies, profound intellectual disability, and the presence in the karyotype of sSMC - i(12)(p10). The frequency of PKS may be underestimated due to problems with
Externí odkaz:
https://doaj.org/article/88afa4cfc61a4a5da256eddbcc50ab10
Autor:
T. A. Gremyakova, S. B. Artemyeva, E. N. Baybarina, N. D. Vashakmadze, V. I. Guzeva, E. V. Gusakova, L. M. Kuzenkova, A. E. Lavrova, O. A. Lvova, S. V. Mikhaylova, L. P. Nazarenko, S. S. Nikitin, A. V. Polyakov, E. L. Dadali, A. G. Rumyantsev, G. E. Sakbaeva, V. M. Suslov, O. I. Gremyakova, A. A. Stepanov, N. I. Shakhovskaya
Publikováno v:
Нервно-мышечные болезни, Vol 13, Iss 2, Pp 10-19 (2023)
Duchenne muscular dystrophy is a genetic orphan neuromuscular disease caused by a mutation in the DMD gene encoding the protein dystrophin. As a result of developing and progressive muscle damage and atrophy, children lose the ability to walk, develo
Externí odkaz:
https://doaj.org/article/4f23ad2f44564dcc8bb335b99bdacb0e
Autor:
V. V. Demeneva, E. N. Tolmacheva, T. V. Nikitina, E. A. Sazhenova, S. Yu. Yuriev, A. Sh. Makhmutkhodzhaev, A. S. Zuev, S. A. Filatova, A. E. Dmitriev, Ya. A. Darkova, L. P. Nazarenko, I. N. Lebedev, S. A. Vasilyev
Publikováno v:
Вавиловский журнал генетики и селекции, Vol 27, Iss 1, Pp 63-71 (2023)
The placenta has a unique hypomethylated genome. Due to this feature of the placenta, there is a potential possibility of using regulatory elements derived from retroviruses and retrotransposons, which are suppressed by DNA methylation in the adult b
Externí odkaz:
https://doaj.org/article/5a1a5fd8039a49aa8d6121a82b380e40
Autor:
M. M. Gridina, E. Vesna, M. E. Minzhenkova, N. V. Shilova, O. P. Ryzhkova, L. P. Nazarenko, E. O. Belyaeva, I. N. Lebedev, V. S. Fishman
Publikováno v:
Вавиловский журнал генетики и селекции, Vol 27, Iss 1, Pp 83-87 (2023)
The genome-wide variant of the chromatin conformation capture technique (Hi-C) is a powerful tool for revealing patterns of genome spatial organization, as well as for understanding the effects of their disturbance on disease development. In addition
Externí odkaz:
https://doaj.org/article/a55424d32e3344e6b2247198ce34f33f
Autor:
T. A. Gremyakova, S. V. Artemyeva, N. D. Vashakmadze, I. P. Vitkovskaya, V. I. Guzeva, O. V. Guzeva, L. M. Kuzenkova, S. V. Mikhailova, L. P. Nazarenko, T. M. Pervunina, N. L. Pechatnikova, T. V. Podkletnova, G. E. Sakbaeva, A. A. Stepanov, V. M. Suslov, O. I. Gremyakova, N. I. Shakhovskaya, S. S. Nikitin
Publikováno v:
Нервно-мышечные болезни, Vol 12, Iss 2, Pp 10-18 (2022)
Duchenne muscular dystrophy (DMD) is a fatal neuromuscular disease due to a mutation in the gene encoding dystrophin synthesis. In patients, muscle damage and atrophy progresses, the ability to move independently decreases as well as respiratory and
Externí odkaz:
https://doaj.org/article/2d5cb1f3844a45cb95295db2a3337785
Autor:
E. A. Fonova, A. A. Kashevarova, M. E. Lopatkina, A. A. Sivtsev, A. A. Zarubin, V. V. Demeneva, G. N. Seitova, L. I. Minaycheva, O. A. Salyukova, S. V. Fadyushina, V. V. Petrova, E. O. Belyaeva, L. P. Nazarenko, I. N. Lebedev
Publikováno v:
European Psychiatry, Vol 66, Pp S887-S887 (2023)
Introduction The deductive method: from karyotyping to aCGH and WES is an important aspect in the diagnosis and search for the causes of intellectual disability due to congenital brain anomalies. There is recommendation to exclude the presence of CNV
Externí odkaz:
https://doaj.org/article/e9e76720658348708ac7cc6e1188419a
Autor:
A. A. Kashevarova, E. O. Belyaeva, E. A. Fonova, M. E. Lopatkina, O. Y. Vasilyeva, D. A. Fedotov, A. A. Zarubin, A. A. Sivtsev, V. V. Demeneva, O. A. Salyukova, V. V. Petrova, S. V. Fadiushina, L. I. Minaycheva, G. N. Seitova, L. P. Nazarenko, I. N. Lebedev
Publikováno v:
European Psychiatry, Vol 66, Pp S887-S887 (2023)
Introduction aCGH determines pathogenic copy number variations (CNVs) in about 10% of patients with intellectual disability (ID). In another 20% of patients, probably pathogenic CNVs or variants with uncertain clinical significance are detected. It m
Externí odkaz:
https://doaj.org/article/40662c68514145aab44af67c6d70bd1d
Autor:
E. Yu. Zakharova, S. V. Mikhailova, V. V. Zarubina, N. A. Krasnoshchekova, N. L. Pechatnikova, V. P. Vorontsova, D. I. Gribov, M. V. Zazivihina, А. N. Slatetskaya, M. V. Kurkina, P. V. Baranova, L. P. Nazarenko, S. А. Repina, L. R. Selimsyanova, N. D. Vashakmadse, T. V. Bushueva
Publikováno v:
Нервно-мышечные болезни, Vol 11, Iss 4, Pp 12-25 (2021)
Treatment of many of the diseases in the panel of expanded newborn screening includes dietary therapy. Glutaric aciduria type 1 (GA1) is a hereditary disorder caused by mutations in the gene GCDH, encoding glutaryl‑CoA dehydrogenase, an enzyme in t
Externí odkaz:
https://doaj.org/article/75dd2591077642beb4663d43ddbd4823
Publikováno v:
Российский кардиологический журнал, Vol 27, Iss 7 (2022)
Heart failure in Fabry disease (FD) is unfavorable prognostic manifestation and cause of death. Given that the disease is rare in clinical practice, the low awareness of physicians about this pathology leads to its late diagnosis and the lack of path
Externí odkaz:
https://doaj.org/article/e760c28b0bb54d7d96979440d91ee37b
Autor:
A I Parfenov, S V Bykova, E A Sabelnikova, I V Maev, A A Baranov, I G Bakulin, L M Krums, S V Belmer, T E Borovik, I N Zakharova, Yu A Dmitrieva, E A Roslavtseva, E A Kornienko, A I Khavkin, A S Potapov, M O Revnova, Yu G Mukhina, P L Shcherbakov, E D Fedorov, E A Belousova, I L Khalif, S G Khomeriki, D L Rotin, N G Vorobyeva, A V Pivnik, R B Gudkova, V V Chernin, N V Vokhmyanina, T V Pukhlikova, D A Degtyarev, I V Damulin, A M Mkrtumyan, G S Dzhulai, N K Tetruashvili, A Yu Baranovsky, L I Nazarenko, A G Kharitonov, I D Loranskaya, R G Saifutdinov, M A Livzan, D A Abramov, M F Osipenko, L V Oreshko, E I Tkachenko, S I Sitkin, L I Efremov
Publikováno v:
Терапевтический архив, Vol 89, Iss 3, Pp 94-107 (2017)
1Moscow Clinical Research-and-Practical Center, Moscow Healthcare Department, Moscow; 2A.I. Evdokimov Moscow State University of Medicine and Dentistry, Ministry of Health of Russia, Moscow; 3Children’s Health Research Center, Ministry of Health of
Externí odkaz:
https://doaj.org/article/797da1e9994546bc81466f3e8c331466