Makretskaya N - Search Results

1

Minigene splicing assessment of 20 novel synonymous and intronic glucokinase gene variants identified in patients with maturity-onset diabetes of the young.

Tiulpakov A, Zubkova N, Makretskaya N, Krasnova TS, Melnikova AI, Fedyaeva AS, Vasilyev E, Petrov VM, Rubtsov PM. Tiulpakov A, et al. Among authors: makretskaya n. Hum Mutat. 2020 Jan;41(1):129-132. doi: 10.1002/humu.23919. Epub 2019 Nov 15. Hum Mutat. 2020. PMID: 31529753

2

High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism.

Makretskaya N, Bezlepkina O, Kolodkina A, Kiyaev A, Vasilyev EV, Petrov V, Kalinenkova S, Malievsky O, Dedov II, Tiulpakov A. Makretskaya N, et al. PLoS One. 2018 Sep 21;13(9):e0204323. doi: 10.1371/journal.pone.0204323. eCollection 2018. PLoS One. 2018. PMID: 30240412 Free PMC article.

3

High frequency of pathogenic and rare sequence variants in diabetes-related genes among Russian patients with diabetes in pregnancy.

Zubkova N, Burumkulova F, Plechanova M, Petrukhin V, Petrov V, Vasilyev E, Panov A, Sorkina E, Ulyatovskaya V, Makretskaya N, Tiulpakov A. Zubkova N, et al. Among authors: makretskaya n. Acta Diabetol. 2019 Apr;56(4):413-420. doi: 10.1007/s00592-018-01282-6. Epub 2019 Jan 20. Acta Diabetol. 2019. PMID: 30663027

4

[Clinical and molecular genetic features of 3 family cases of the central precocious puberty, due to MKRN3 gene defects].

Zubkova NA, Kolodkina AA, Makretskaya NA, Okorokov PL, Pogoda TV, Vasiliev EV, Petrov VM, Tiulpakov AN. Zubkova NA, et al. Among authors: makretskaya na. Probl Endokrinol (Mosk). 2021 May 11;67(3):55-61. doi: 10.14341/probl12745. Probl Endokrinol (Mosk). 2021. PMID: 34297502 Free PMC article. Russian.

5

[Clinical and molecular genetic features of cases of isolated hypogonadotropic hypogonadism, associated with defects in GNRHR genes].

Makretskaya NA, Gerasimova MV, Vasilyev EV, Zubkova NA, Kalinchenko NY, Kolodkina AA, Petrov VM, Pogoda TV, Panova AV, Frolova EB, Poliakov AV, Tiulpakov AN. Makretskaya NA, et al. Probl Endokrinol (Mosk). 2021 May 1;67(3):62-67. doi: 10.14341/probl12746. Probl Endokrinol (Mosk). 2021. PMID: 34297503 Free PMC article. Russian.

6

[Kalmann syndrome in monozygous twins as an isolated manifestation of the SOX10 gene defect].

Frolova EB, Petrov VM, Vasilyev EV, Makretskaya NA, Pilipenko OV, Tyulpakov AN. Frolova EB, et al. Among authors: makretskaya na. Probl Endokrinol (Mosk). 2021 Sep 7;67(5):43-47. doi: 10.14341/probl12789. Probl Endokrinol (Mosk). 2021. PMID: 34766489 Free PMC article. Russian.

7

High carrier frequency of a nonsense p.Trp230* variant in HSD3B2 gene in Ossetians.

Makretskaya N, Kalinchenko N, Tebieva I, Ionova S, Zinchenko R, Marakhonov A, Tiulpakov A. Makretskaya N, et al. Front Endocrinol (Lausanne). 2023 May 16;14:1146768. doi: 10.3389/fendo.2023.1146768. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37274334 Free PMC article.

8

[Clinical guideline of «congenital hypothyroidism»].

Peterkova VA, Bezlepkina OB, Shiryaeva TU, Vadina TA, Nagaeva EV, Chikulaeva OA, Shreder EV, Konuhova MB, Makretskaya NA, Shestopalova EA, Mitkina VB. Peterkova VA, et al. Among authors: makretskaya na. Probl Endokrinol (Mosk). 2022 Feb 17;68(2):90-103. doi: 10.14341/probl12880. Probl Endokrinol (Mosk). 2022. PMID: 35488760 Free PMC article. Russian.

9

[Clinical and laboratory characteristics of arginine vasopressin resistance, caused by a new homozygous mutation p.R113C in AQP2].

Makretskaya NA, Nanzanova US, Hamaganova IR, Eremina ER, Tiulpakov AN. Makretskaya NA, et al. Probl Endokrinol (Mosk). 2023 May 12;69(2):75-79. doi: 10.14341/probl13188. Probl Endokrinol (Mosk). 2023. PMID: 37448274 Free PMC article. Russian.

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