Searching for new genes associated with the familial hypercholesterolemia phenotype using whole-genome sequencing and machine learning von Ivanoshchuk, D. E., Kolker, A. B., Timoshchenko, O. V., Semaev, S. E., Shakhtshneider, E. V.

Volltext

Polymorphism of the GLIS3 gene in a Caucasian population and among individuals with carbohydrate metabolism disorders in Russia von Shakhtshneider, E V, Mikhailova, S V, Ivanoshchuk, D E, Orlov, P S, Ovsyannikova, A K, Rymar, O D, Ragino, Yu I, Voevoda, M I

Volltext

Results of Targeted Sequencing of PRL, PRLR, and PRLHR Genes in Young Women with Nonneoplastic Hyperprolactinemia von Shakhtshneider, E. V., Ivanoshchuk, D. E., Voevoda, S. M., Rymar, O. D.

Volltext

Familial combined hyperlipidemia: current status of the problem (literature review) von Timoshchenko, O. V., Shakhtshneider, E. V.

Volltext

Screening of West Siberian patients with primary congenital glaucoma for CYP1B1 gene mutations von Ivanoshchuk, D E, Mikhailova, S V, Fenkova, O G, Shakhtshneider, E V, Fursova, A Z, Bychkov, I Y, Voevoda, M I

Volltext

Blood levels of proprotein convertase subtilisin/kexin type 9 (PCSK9) in men of different population subgroups and its relationship with unfavorable long-term prognosis von Astrakova, K, Ragino, Y, Shakhtshneider, E, Astrakov, S, Voevoda, M

Volltext

A rare splice site mutation in the gene encoding glucokinase/hexokinase 4 in a patient with MODY type 2 von Ivanoshchuk, D E, Shakhtshneider, E V, Ovsyannikova, A K, Mikhailova, S V, Rymar, O D, Oblaukhova, V I, Yurchenko, A A, Voevoda, M I

Volltext

Cascade genetic screening for familial hypercholesterolemia in West Siberia von Shakhtshneider, E, Makarenkova, K, Ivanoshchuk, D, Orlov, P, Ragino, Y, Voevoda, M

Volltext

Polymorphism in genes involved in lipid metabolism in MODY patients von Shakhtshneider, E, Ovsyannikova, A, Kurilshikov, A, Ivanoshchuk, D, Rymar, O, Ragino, Y, Voevoda, M

Volltext

Targeted next-generation sequencing of the LDLRAP1 gene in patients with familial hypercholesterolemia von Ivanoshchuk, D, Shakhtshneider, E, Makarenkova, K, Orlov, P, Ragino, Y, Voevoda, M

Volltext

The R46L polymorphism of PCSK9 gene and lipid profile in Caucasian population of Russia von Astrakova, K, Shakhtshneider, E, Ivanoshchuk, D, Ragino, Y, Astrakov, S, Voevoda, M

Volltext

Biochemical, molecular genetic and clinical aspects of COVID-2019 von Kashtanova, E. V., Shakhtshneider, E. V., Kruchinina, M. V., Logvinenko, I. I., Striukova, E. V., Ragino, Yu. I.

Volltext

Rare polymorphism gln3405glu of apolipoprotein b in caucasian population of west siberia and its association with plasma lipids levels von Voevoda, M, Shakhtshneider, E, Ivanova, M, Nikitin, Y, Malyutina, S

Volltext

Screening for LDLR gene mutations responsible for hypocholesterolemia in Russian population von Shakhtshneider, E, Ivanoshchuk, D, Pilipenko, I, Nikitin, Y, Malyutina, S, Voevoda, M

Volltext

The hindIII polymorphism of lipoprotein lipase gene and lipid profile in caucasian population of west siberia von Shakhtshneider, E, Ragino, Y, Polonskaya, Y, Kashtanova, E, Nikitin, Y, Malyutina, S, Voevoda, M

Volltext

The mutation r3500q of apolipoprotein b in caucasian population of west siberia and in patients with highest total cholesterol level von Voevoda, M, Shakhtshneider, E, Orlov, P, Ivanoshchuk, D, Ivanova, M, Nikitin, Y, Malyutina, S

Volltext

Results of targeted sequencing of the PRL, PRLR, PRLHR genes in young women with non-tumor hyperprolactinemia von Shakhtshneider, E. V., Ivanoshchuk, D. E., Voevoda, S. M., Rymar, O. D.

Volltext

Analysis of polymorphism of innate immunity receptor genes in patients with coronary atherosclerosis and in a population sample from Novosibirsk von Mikhailova, S. V., Ivanoshchuk, D. E., Orlov, P. S., Latyntseva, L. D., Kashtanova, E. V., Polonskaya, Ya. V., Ragino, Yu. I., Shakhtshneider, E. V.

Volltext

Association of Level of Proprotein Convertase Subtilisin/Kexin Type 9 with Intima-Media Thickness in Patients with Familial Hypercholesterolemia von Benimetskaya, K. S., Ragino, Yu. I., Shakhtshneider, E. V., Makarenkova, K. V., Shchepina, Yu. V., Stakhneva, E. M., Voevoda, M. I.

Volltext

A Case of Maturity Onset Diabetes of the Young (MODY3) in a Family with a Novel HNF1A Gene Mutation in Five Generations von Ovsyannikova, A. K., Rymar, O. D., Ivanoshchuk, D. E., Mikhailova, Svetlana V., Shakhtshneider, E. V., Orlov, P. S., Malakhina, E. S., Voevoda, M. I.

Volltext