Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Ludmila P. Nazarenko"'
Autor:
Irina A. Goncharova, Sofia A. Shipulina, Aleksei A. Sleptcov, Aleksei A. Zarubin, Nail R. Valiakhmetov, Dmitry S. Panfilov, Evgeniya V. Lelik, Viktor V. Saushkin, Boris N. Kozlov, Ludmila P. Nazarenko, Maria S. Nazarenko
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 15, p 8315 (2024)
Nonsyndromic sporadic thoracic aortic aneurysm (nssTAA) is characterized by diverse genetic variants that may vary in different populations. Our aim was to identify clinically relevant variants in genes implicated in hereditary aneurysms in Russian p
Externí odkaz:
https://doaj.org/article/7fda25715a1e41f5a91192096c9877dd
Autor:
Maria Gridina, Evgeniy Mozheiko, Emil Valeev, Ludmila P. Nazarenko, Maria E. Lopatkina, Zhanna G. Markova, Maria I. Yablonskaya, Viktoria Yu Voinova, Nadezhda V. Shilova, Igor N. Lebedev, Veniamin Fishman
Publikováno v:
Epigenetics & Chromatin, Vol 14, Iss 1, Pp 1-15 (2021)
Abstract Background The Hi-C technique is widely employed to study the 3-dimensional chromatin architecture and to assemble genomes. The conventional in situ Hi-C protocol employs restriction enzymes to digest chromatin, which results in nonuniform g
Externí odkaz:
https://doaj.org/article/fec92906eb854cc3a364233c77852460
Autor:
Maria S. Nazarenko, Iuliia V. Viakhireva, Mikhail Y. Skoblov, Elena V. Soloveva, Aleksei A. Sleptcov, Ludmila P. Nazarenko
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 16, p 9234 (2022)
Meier–Gorlin syndrome (MGS) is a rare genetic developmental disorder that causes primordial proportional dwarfism, microtia, the absence of or hypoplastic patellae and other skeletal anomalies. Skeletal symptoms overlapping with other syndromes mak
Externí odkaz:
https://doaj.org/article/bf71e556054a4676aace7010453f75a7
Autor:
Igor N. Lebedev, Tatyana V. Karamysheva, Eugeny A. Elisaphenko, Alexey I. Makunin, Daria I. Zhigalina, Maria E. Lopatkina, Gleb V. Drozdov, Aleksander D. Cheremnykh, Natalia B. Torkhova, Gulnara N. Seitova, Stanislav A. Vasilyev, Anna A. Kashevarova, Ludmila P. Nazarenko, Nikolay B. Rubtsov
Publikováno v:
Biomedicines, Vol 9, Iss 8, p 1030 (2021)
Interpreting the clinical significance of small supernumerary marker chromosomes (sSMCs) in prenatal diagnosis is still an urgent problem in genetic counselling regarding the fate of a pregnancy. We present a case of prenatal diagnosis of mosaic sSMC
Externí odkaz:
https://doaj.org/article/fc2a27e1d0084a8dabf6292e7be10799
Autor:
Maria S. Nazarenko, Iuliia V. Viakhireva, Mikhail Y. Skoblov, Elena V. Soloveva, Aleksei A. Sleptcov, Ludmila P. Nazarenko
Meier–Gorlin syndrome (MGS) is a rare genetic developmental disorder that causes primordial proportional dwarfism, microtia, absent or hypoplastic patellae and other skeletal anomalies. Overlapping skeletal symptoms make MGS difficult to diagnose c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8f3bafe0ff76ac54304af10fd32f716
Autor:
Paul Malet, V. P. Puzyrev, Elena O. Vasiljeva, Ludmila P. Nazarenko, S. A. Nazarenko, Tanja A. Nemtseva, N. V. Ostroverkhova
Publikováno v:
American Journal of Medical Genetics. 85:179-182
We present a patient with partial monosomy of the short arm of chromosome 18 caused by de novo translocation t(Y;18) and a generalized form of keratosis pilaris (keratosis pilaris affecting the skin follicles of the trunk, limbs and face-ulerythema o
Autor:
V. P. Puzyrev, Ludmila P. Nazarenko
Publikováno v:
Genomics and Health in the Developing World
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::097a02c5f0abadd5cdf3a3f0b1173781
https://doi.org/10.1093/med/9780195374759.003.0112
https://doi.org/10.1093/med/9780195374759.003.0112