Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Nina Makretskaya"'
Autor:
Nina Makretskaya, Natalia Kalinchenko, Inna Tebieva, Sofya Ionova, Rena Zinchenko, Andrey Marakhonov, Anatoly Tiulpakov
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
BackgroundCongenital adrenal hyperplasia (CAH) caused by 3β-HSD deficiency is a rare form of congenital adrenal deficiency with an autosomal recessive type of inheritance. Previously we have demonstrated that a single nucleotide variant (SNV) p.Trp2
Externí odkaz:
https://doaj.org/article/5e5c7612678946a68f9a3c87d1f9c23b
Autor:
Nina Makretskaya, Olga Bezlepkina, Anna Kolodkina, Alexey Kiyaev, Evgeny V Vasilyev, Vasily Petrov, Svetlana Kalinenkova, Oleg Malievsky, Ivan I Dedov, Anatoly Tiulpakov
Publikováno v:
PLoS ONE, Vol 13, Iss 9, p e0204323 (2018)
OBJECTIVE:Results of the screening of disease causative mutations in congenital hypothyroidism (CH) vary significantly, depending on the sequence strategy, patients' inclusion criteria and bioinformatics. The objective was to study the molecular basi
Externí odkaz:
https://doaj.org/article/eca1b6d2f38241babd4d68a4380d7899
Autor:
Evgeny Vasilyev, Alena S Fedyaeva, Tatiana S Krasnova, Natalia A. Zubkova, Anatoly Tiulpakov, Petr M Rubtsov, Nina Makretskaya, Vasily Petrov, Anna I Melnikova
Publikováno v:
Human Mutation. 41:129-132
The next-generation sequencing (NGS) has become a routine method for diagnostics of inherited disorders. However, assessment of the discovered variants may be challenging, especially when they are not predicted to change the protein sequence. Here we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb7ee1deff99040eb88c7029223302f1
https://doi.org/10.1002/humu.23919
https://doi.org/10.1002/humu.23919
Autor:
Nina Makretskaya, Vasily A. Petrukhin, Natalia A. Zubkova, Margarita A. Plechanova, Vasily Petrov, Evgeny Vasilyev, Anton E. Panov, Anatoliy N. Tyulpakov, Fatima F. Burumkulova
Publikováno v:
Сахарный диабет, Vol 22, Iss 3, Pp 274-280 (2019)
MODY1 and MODY3 represent rare causes of diabetes in pregnancy. Establishing a molecular diagnosis of MODY1 or MODY3 during pregnancy may be important for minimizing risk of perinatal complications and for improving glycemic control after pregnancy.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8046e4e5ff2e77f413b866a7c6bce189
https://www.dia-endojournals.ru/jour/article/view/9945
https://www.dia-endojournals.ru/jour/article/view/9945
Autor:
Victoria I. Ulyatovskaya, Nina Makretskaya, Vasily A. Petrukhin, Anatoly Tiulpakov, Anton E. Panov, Natalia A. Zubkova, Evgeny Vasilyev, Margarita A. Plechanova, Fatima F. Burumkulova, Ekaterina Sorkina, Vasily Petrov
Publikováno v:
Acta Diabetologica. 56:413-420
Diabetes in pregnancy may be associated with monogenic defects of beta-cell function, frequency of which depends on ethnicity, clinical criteria for selection of patients as well as methods used for genetic analysis. The aim was to evaluate the contr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec5b380a5d6e23381fbaa03121d0f332
https://doi.org/10.1007/s00592-018-01282-6
https://doi.org/10.1007/s00592-018-01282-6
Autor:
Anatoliy N. Tyulpakov, Nina Makretskaya, Vasily Petrov, Oleg Malievsky, Ivan Ivanovich Dedov, Olga Bezlepkina, Anna Kolodkina, Olga A. Chikulaeva, Alexey Vasil'evich Kiyaev, Evgeny Vasilyev
Publikováno v:
Клиническая и экспериментальная тиреоидология, Vol 14, Iss 2, Pp 64-71 (2018)
Congenital hypothyroidism is a heterogeneous group of diseases, which is manifested by loss of function of the thyroid gland that affects infants from birth. 80–85% of cases are due to different types of thyroid dysgenesis. 5 genes have been descri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9497acb5b4f15da5bcf8461d38fa28f5
https://doi.org/10.14341/ket9556
https://doi.org/10.14341/ket9556
Autor:
Fatima F. Burumkulova, Margarita A. Plechanova, Anton E. Panov, Tatiana S. Budykina, Natalia A. Zubkova, Victoria I. Ulyatovskaya, Anatoly Tiulpakov, Nina Makretskaya, Vasily A. Petrukhin
Publikováno v:
Сахарный диабет, Vol 21, Iss 2, Pp 92-98 (2018)
Background. Gestational diabetes (GDM) due to GCK gene mutations is the most frequent form of monogenic diabetes mellitus (DM) presenting during pregnancy. It has been suggested that the use of insulin in pregnancies with fetuses carrying GCK mutatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1f3121029f03d392e9b66611cd02632
https://www.dia-endojournals.ru/jour/article/view/9429
https://www.dia-endojournals.ru/jour/article/view/9429
Autor:
Vasiliy Petrov, Evgeny Vasilyev, Ivan Ivanovich Dedov, Olga Bezlepkina, Anatoly Tiulpakov, Nina Makretskaya, Olga A. Chikulaeva
Publikováno v:
Problems of Endocrinology. 63:110-113
Congenital hypothyroidism is a genetically heterogeneous group of diseases caused by two mechanisms: gland dysgenesis and dyshormonogenesis. The disease pattern includes a number of syndromic forms, one of which is a combination of congenital hypothy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3e3e993240865599d364aa1a0e2901dc
https://doi.org/10.14341/probl2017632110-113
https://doi.org/10.14341/probl2017632110-113
Autor:
Evgeny Vasilyev, Alexey Vasil'evich Kiyaev, Nina Makretskaya, Anatoly Tiulpakov, Svetlana Kalinenkova, Vasily Petrov, Anna Kolodkina, Oleg Malievsky, Olga Bezlepkina, Ivan Ivanovich Dedov
Publikováno v:
PLoS ONE, Vol 13, Iss 9, p e0204323 (2018)
PLoS ONE
PLoS ONE
Objective Results of the screening of disease causative mutations in congenital hypothyroidism (CH) vary significantly, depending on the sequence strategy, patients’ inclusion criteria and bioinformatics. The objective was to study the molecular ba
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86f24b096525eb5a3db2cb9a2daa34db
http://europepmc.org/articles/PMC6150524?pdf=render
http://europepmc.org/articles/PMC6150524?pdf=render
Autor:
Evgeny V. Vasiliev, Mariya Aleksandrovna Osipovskaya, Nina Makretskaya, Anatoly Tiulpakov, Alexey Vasil'evich Kiyaev
Publikováno v:
Клиническая и экспериментальная тиреоидология, Vol 11, Iss 4, Pp 36-39 (2016)
Two female dizygotic twins with subclinical primary hypothyroidism due to homozygous p.R450H mutation in TSHR gene are presented. A 5-year follow-up in both cases showed no progression of thyroid dysfunction. Indications for levothyroxine replacement
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b16ac897f457dea6a2ecd564d8f3f02
https://doi.org/10.14341/ket2015436-39
https://doi.org/10.14341/ket2015436-39