E. Vasilyev

发表

Torque Teno Virus (TTV) distribution in healthy Russian population

A. Tonevitsky, D. Rebrikov, E. Vasilyev, 2009, Virology Journal.

A Novel Mutation in the Critical P-Box Residue of Steroidogenic Factor-1 Presenting with XY Sex Reversal and Transient Adrenal Failure

I. Dedov, N. Kalinchenko, A. Tiulpakov, 2017, Hormone Research in Paediatrics.

[A series of clinical cases of familial hypocalciuric hypercalcemia syndrome].

A. Eremkina, J. Krupinova, N. Mokrysheva, 2020, Problemy endokrinologii.

[CDC73 mutations in young patients with primary hyperparathyroidism: A description of two clinical cases].

Z. Belaya, V. Gorbunova, N. Mokrysheva, 2016, Terapevticheskii arkhiv.

A synonymous variant in GCK gene as a cause of gestational diabetes mellitus

N. Zubkova, A. Tiulpakov, P. Rubtsov, 2019, Diabetes mellitus.

Association of Alleles of Human Leukocyte Antigen Class II Genes and Severity of COVID-19 in Patients of the ‘Red Zone’ of the Endocrinology Research Center, Moscow, Russia

G. Melnichenko, N. Mokrysheva, D. Gryadunov, 2022, Diseases.

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

A. Kolodkina, I. Dedov, A. Tiulpakov, 2018, PloS one.

A case of congenital hypothyroidism combined with sensorineural hearing loss (Pendred syndrome) caused by a TPO gene defect

I. Dedov, A. Tiulpakov, O. Bezlepkina, 2017 .

Mutations in transcription factor as rare causes of diabetes in pregnancy

N. Zubkova, A. Tyulpakov, E. Vasilyev, 2019, Diabetes mellitus.

Study of molecular basis of thyroid dysgenesis

A. Kolodkina, I. Dedov, A. Tyulpakov, 2018, Clinical and experimental thyroidology.

Search for Genetic Predictors of Adult Autoimmune Polyendocrine Syndrome in Monozygotic Twins

E. Vasilyev, E. Troshina, D. A. Dimitrova, 2021, Clinical medicine insights. Endocrinology and diabetes.

Circular RNAs and thyroid cancer: closed molecules, open possibilities.

E. Vasilyev, F. M. Abdulkhabirova, B. M. Shifman, 2022, Critical reviews in oncology/hematology.

Successful Use of Denosumab for Life-Threatening Hypercalcemia in a Pediatric Patient with Primary Hyperparathyroidism

Z. Belaya, A. Kolodkina, A. Tiulpakov, 2020, Hormone Research in Paediatrics.

Primary hyperparathyroidism in young patients in Russia: high frequency of hyperparathyroidism-jaw tumor syndrome

G. Melnichenko, I. Dedov, L. Rozhinskaya, 2017, Endocrine connections.

A founder mutation in the POMC 5'-UTR causes proopiomelanocortin deficiency through splicing-mediated decrease of mRNA.

M. Skoblov, A. Filatova, A. Marakhonov, 2022, The Journal of clinical endocrinology and metabolism.

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

N. Zubkova, A. Tiulpakov, P. Rubtsov, 2020, Human mutation.

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

N. Zubkova, E. Sorkina, A. Tiulpakov, 2019, Acta Diabetologica.

Progressive Generalized Lipodystrophy as a Manifestation of Autoimmune Polyglandular Syndrome Type 1.

E. Sorkina, A. Tiulpakov, S. Polyakova, 2016, The Journal of clinical endocrinology and metabolism.

Familial Acromegaly and Bilateral Asynchronous Pheochromocytomas in a Female Patient With a MAX Mutation: A Case Report

Z. Belaya, A. Tiulpakov, E. Mamedova, 2021, Frontiers in Endocrinology.

Clinical observation of a patient with TMEM127 and EGLN1 gene variants, pheochromocytoma and pancreatic tumor

E. Vasilyev, D. Beltsevich, E. Troshina, 2021 .

Gene panel study for familial pituitary adenoma

I. Dedov, L. Rozhinskaya, A. Tiulpakov, 2015 .

Phenocopies of multiple endocrine neoplasia type 1: role of the genes, associated with the development of pituitary adenomas

Рожинская Людмила Яковлевна, G. Melnichenko, N. Mokrysheva, 2016 .

[Hereditary Cushing's syndrome caused by primary bilateral macronodular adrenal hyperplasia due to ARMC5 mutation with concomitant primary hyperparathyroidism: the first known case in Russia].

Z. Belaya, A. Tiulpakov, E. Mamedova, 2019, Problemy endokrinologii.

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

A. Poliakov, A. Kolodkina, N. Zubkova, 2021, Problemy endokrinologii.

Non-lethal Raine Syndrome in a Middle-Aged Woman Caused by a Novel FAM20C Mutation

Z. Belaya, D. Dimitrova, A. Tiulpakov, 2019, Calcified Tissue International.

Second-hit APC mutation in a familial adamantinomatous craniopharyngioma.

M. Ryzhova, A. Tiulpakov, E. Vasilyev, 2020, Neuro-oncology.

Novel GLIS3 mutation in patient with neonatal diabetes mellitus and congenital hypothyroidism (NDH-syndrome)

А. Н. Тюльпаков, A. Tyulpakov, Y. Tikhonovich, 2022, Diabetes mellitus.

Insulin autoimmune syndrome

M. Solovyev, E. Vasilyev, E. Troshina, 2020, Endocrinology, diabetes & metabolism case reports.

Novel Insights from Clinical Practice

N. Kalinchenko, A. Tiulpakov, E. Vasilyev, 2018 .