Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Olga A, Shchagina"'
Autor:
Sofya A. Ionova, Aysylu F. Murtazina, Andrey A. Marakhonov, Olga A. Shchagina, Nina V. Ryadninskaya, Inna S. Tebieva, Vitaly V. Kadyshev, Artem O. Borovikov, Evgeny K. Ginter, Sergey I. Kutsev, Rena A. Zinchenko
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 17, p 9734 (2024)
Myotonic dystrophy type 1 (DM1) is a multisystem disorder with progressive myopathy and myotonia. The clinical study was conducted in the Republic of North Ossetia-Alania (RNOA), and in it 39 individuals from 17 unrelated families were identified wit
Externí odkaz:
https://doaj.org/article/86166c8852db4680a725410044d44bda
Autor:
Inna S. Tebieva, Polina V. Mishakova, Yulia V. Gabisova, Alana V. Khokhova, Tamara G. Kaloeva, Andrey V. Marakhonov, Olga A. Shchagina, Alexander V. Polyakov, Evgeny K. Ginter, Sergey I. Kutsev, Rena A. Zinchenko
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 9, p 4598 (2024)
This study, conducted in the Republic of North Ossetia-Alania (RNOA), aimed to explore the genetic landscape of hyperphenylalaninemia (HPA) and phenylketonuria (PKU) in the Ossetian population using data from newborn screening (NBS). Through comprehe
Externí odkaz:
https://doaj.org/article/934068c12947485a86366cc8dab6da1d
Publikováno v:
Анналы клинической и экспериментальной неврологии, Vol 15, Iss 3, Pp 85-91 (2021)
Introduction. Limb-girdle muscular dystrophy (LGMD) includes more than 30 forms caused by mutations in genes located on autosomes. The most common form is calpain-3-related LGMD, with autosomal recessive inheritance pattern (OMIM 253600). An autosoma
Externí odkaz:
https://doaj.org/article/eac3f5daff8643a3b8e7de4daae883e1
Autor:
Andrey V. Marakhonov, Irina A. Mishina, Vitaly V. Kadyshev, Svetlana A. Repina, Maria F. Shurygina, Olga A. Shchagina, Natalya N. Vasserman, Tatyana A. Vasilyeva, Sergey I. Kutsev, Rena A. Zinchenko
Publikováno v:
BMC Medical Genetics, Vol 21, Iss S1, Pp 1-5 (2020)
Abstract Background Hereditary ophthalmic pathology is a genetically heterogeneous group of diseases that occur either as an isolated eye disorder or as a symptom of hereditary syndromes (chromosomal or monogenic). Thus, a diagnostic search in some c
Externí odkaz:
https://doaj.org/article/1fcf4db79ffb4597a5b8ab6f9bf52cb0
Autor:
Sofya A. Ionova, Aysylu F. Murtazina, Inna S. Tebieva, Zalina K. Getoeva, Elena L. Dadali, Polina A. Chausova, Olga A. Shchagina, Andrey V. Marakhonov, Sergey I. Kutsev, Rena A. Zinchenko
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 20, p 12127 (2022)
Here, we described three affected boys from two unrelated families of Ossetian-Digor origin from the Republic of North Ossetia-Alania who were admitted to the Research Centre for Medical Genetics with unspecified muscular dystrophy. High-throughput s
Externí odkaz:
https://doaj.org/article/0c533f3bbdee4c7a8f2a398ceb394191
Autor:
Aysylu F. Murtazina, Olga A. Shchagina, Sergey S. Nikitin, Elena L. Dadali, Alexander V. Polyakov
Publikováno v:
Анналы клинической и экспериментальной неврологии, Vol 13, Iss 1, Pp 55-69 (2019)
Inherited peripheral neuropathies (IPNs) are a heterogeneous group of hereditary motor and sensory neuropathies (HMSN), hereditary motor neuropathies, and hereditary sensory neuropathies. IPNs can be inherited in autosomal dominant, autosomal recessi
Externí odkaz:
https://doaj.org/article/8fe8c1dac0da48f595d086947fab1394
Autor:
Tatiana V. Markova, Vladimir M. Kenis, Evgenii V. Melchenko, Dmitry A. Reshchikov, Aynur E. Alieva, Darya V. Osipova, Liudmila A. Bessonova, Tatiana S. Nagornova, Natalya N. Vasserman, Natalya Yu. Ogorodova, Olga A. Shchagina, Elena L. Dadali
Publikováno v:
Pediatric Traumatology, Orthopaedics and Reconstructive Surgery. 11:17-28
BACKGROUND: Achondroplasia and pseudoachondroplasia are hereditary systemic skeletal dysplasias characterized by a certain similarity of clinical manifestations; however, they have different etiopathogenetic mechanisms and confirmation methods for mo
Publikováno v:
Клиническая и экспериментальная тиреоидология, Vol 12, Iss 1, Pp 46-52 (2016)
We report a rare germline RET mutation c.2752 AG (p.M918V) found in a 62-year-old man with synchronous medullary thyroid carcinoma (MTC) and papillary thyroid carcinoma (PTC) (follicular variant) in cervical lymph node metastases with significant pre
Externí odkaz:
https://doaj.org/article/f609c609a7164486a16ae8ca5a083eeb
Autor:
Galina E, Rudenskaya, Andrey V, Marakhonov, Olga A, Shchagina, Ekaterina R, Lozier, Elena L, Dadali, Irina A, Akimova, Nika V, Petrova, Fedor A, Konovalov
Publikováno v:
J Pediatr Genet
Ataxia with oculomotor apraxia type 4 (AOA4) is a rare autosomal recessive, PNKP -related disorder delineated in 2015 in Portugal. We diagnosed AOA4 by next generation sequencing (NGS) followed by Sanger's sequencing in three boys from two unrelated