Zobrazeno 1 - 10
of 378
pro vyhledávání: '"Tiulpakov AN"'
Autor:
Sommayya Aftab, Diliara Gubaeva, Jayne A L Houghton, Antonia Dastamani, Ellada Sotiridou, Clare Gilbert, Sarah E Flanagan, Anatoly Tiulpakov, Maria Melikyan, Pratik Shah
Publikováno v:
Endocrine Connections, Vol 12, Iss 4, Pp 1-7 (2023)
Background: Hyperinsulinism/hyperammonemia (HI/HA) syndrome is the second most common type of congenital hyperinsulinism caused by an activating GLUD1 mutation. Objective: The aim of this study was to determine the clinical profile and long-term neur
Externí odkaz:
https://doaj.org/article/880f7ca7eaf7476fabee9019cd87379d
Autor:
Oral, Elif A., Garg, Abhimanyu, Tami, Joseph, Huang, Eric A., O'Dea, Louis St.L., Schmidt, Hartmut, Tiulpakov, Anatoly, Mertens, Ann, Alexander, Veronica J., Watts, Lynnetta, Hurh, Eunju, Witztum, Joseph L., Geary, Richard S., Tsimikas, Sotirios
Publikováno v:
In Journal of Clinical Lipidology November-December 2022 16(6):833-849
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:
Maria Melikyan, Diliara Gubaeva, Anna Shadrina, Anna Bolmasova, Maria Kareva, Anatoly Tiulpakov, Artem Efremenkov, Yuri Sokolov, Klaus Brusgaard, Henrik T. Christesen, Kirstine Andersen, Alexey Stepanov, Julia Averyanova, Sergey Makarov, Larisa Gurevich
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
BackgroundInsulinomas are very rare in childhood with sparse knowledge on the clinical aspects and the presence of Multiple Endocrine Neoplasia type 1 (MEN1).MethodsWe conducted a retrospective review of patients diagnosed with insulinoma between 199
Externí odkaz:
https://doaj.org/article/b221cd46fac44c7eaa51c3bfae4690a0
Autor:
Marina Yukina, Nurana Nuralieva, Ekaterina Sorkina, Ekaterina Troshina, Anatoly Tiulpakov, Zhanna Belaya, Galina Melnichenko
Publikováno v:
Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-9 (2021)
Lamin A/C (LMNA) gene mutations cause a heterogeneous group of progeroid disorders, including Hutchinson–Gilford progeria syndrome, mandibuloacral dysplasia, atypical progeroid syndrome (APS) and generalized lipodystrophy-associated progeroid syndr
Externí odkaz:
https://doaj.org/article/0193cf3ebd20459a82fb9e98e94f6f4c
Autor:
Ekaterina Sorkina, Polina Makarova, Liubov Bolotskaya, Irina Ulyanova, Tatyana Chernova, Anatoly Tiulpakov
Publikováno v:
Clinical Diabetes and Endocrinology, Vol 6, Iss 1, Pp 1-9 (2020)
Abstract Background Congenital generalized lipodystrophy (CGL) is a rare disorder characterized by the lack of adipose tissue and metabolic complications with predominantly autosomal recessive inheritance. There are 6 different genes known to cause C
Externí odkaz:
https://doaj.org/article/503cf2a8c1b04e129b24cb1f49e9658b
Autor:
Tatiana A. Grebennikova, Alina O. Gavrilova, Anatoly N. Tiulpakov, Natalya V. Tarbaeva, Zhanna E. Belaya, Galina A. Melnichenko
Publikováno v:
Остеопороз и остеопатии, Vol 22, Iss 2, Pp 32-37 (2020)
Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder. Main clinical manifestations include recurring pathological fractures and progressive skeletal deformation. Five types of OI are distinguished based on clinical symptoms. In mos
Externí odkaz:
https://doaj.org/article/217016e2c3d243d28cd9406f0e55067a
Autor:
Boris M. Shifman, Larisa K. Dzeranova, Ekaterina A. Pigarova, Anatoly N. Tiulpakov, Natalia S. Fedorova
Publikováno v:
Ожирение и метаболизм, Vol 16, Iss 4, Pp 90-102 (2019)
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is an autosomal recessive disorder of the adrenal cortex characterized by impairment of cortisol biosynthesis (with possible impairment of aldosterone biosynthesis) and ex
Externí odkaz:
https://doaj.org/article/cd43037263bc4a55a2f3e5cdba955fba
Autor:
Julia Krupinova, Natalya Mokrysheva, Vasiliy Petrov, Ekaterina Pigarova, Anna Eremkina, Ekaterina Dobreva, Alina Ajnetdinova, Galina Melnichenko, Anatoly Tiulpakov
Publikováno v:
Endocrinology, Diabetes & Metabolism, Vol 4, Iss 4, Pp n/a-n/a (2021)
Abstract Objective To compare the serum miRNA expression profiles between patients with benign and malignant parathyroid tumours. Background Despite recent advances in molecular biology, a histological tissue biopsy is still the method of choice used
Externí odkaz:
https://doaj.org/article/3f06953817e04d5d88f2063e35b41628
Autor:
Alexandra V. Panova, Kristina S. Kulikova, Natalia V. Klementieva, Ivan D. Krylov, Irina O. Snezhko, Anatoly N. Tiulpakov, Sergey L. Kiselev
Publikováno v:
Stem Cell Research, Vol 54, Iss , Pp 102414- (2021)
Neonatal severe primary hyperparathyroidism (NSHPT) is a rare autosomal recessive disorder of calcium homeostasis that manifests shortly after birth with hypercalcemia and bone disease. NSHPT, in most cases, is attributed to mutations in the calcium-
Externí odkaz:
https://doaj.org/article/e4dbea79dd664cc885b6ccf86443941f