Hypophosphatemic rickets: pathogenesis, diagnosis and treatment

by Kristina S. Kulikova, Anatoly N. Tiulpakov
Published 2018-07-01

Inherited and acquired lipodystrophies: molecular-genetic and autoimmune mechanisms

by Ekaterina L. Sorkina, Anatoly N. Tiulpakov
Published 2018-04-01

Osteogenesis imperfecta as a cause of death

by Anastasia A. Malygina, Tatiana A. Grebennikova, Anatoly N. Tiulpakov, Zhanna E. Belaya
Published 2018-04-01

Severe Wolcott-Rallison syndrome due to a nonsense mutation in the first exon EIF2AK3

by Diliara N. Gubaeva, Dmitry N. Laptev, Anatoly N. Tiulpakov, Lidia M. Petrova
Published 2018-03-01

Metabolic changes in patients with familial pituitary adenomas associated with mutations in the AIP gene

by Tatiana S. Tarasova, Ekaterina A. Pigarova, Larisa K. Dzeranova, Anatoly N. Tiulpakov, Ivan I. Dedov
Published 2017-06-01

Late consequences of classic congenital adrenal hyperplasia and its long-term poor control in men (case report and literature review)

by Boris M. Shifman, Larisa K. Dzeranova, Ekaterina A. Pigarova, Anatoly N. Tiulpakov, Natalia S. Fedorova
Published 2020-03-01

Rare genetic diseases of the bone tissue: the case of a family with osteogenesis imperfecta and X-linked hypophosphataemia

by Irina Yu. Popova, Tatiana A. Grebennikova, Anatoly N. Tiulpakov, Kristina S. Kulikova, Liudmila Y. Rozhinskaya, Zhanna E. Belaya
Published 2018-04-01

Clinical application experience of asfotase alfa for a young patient with childhood hypophosphatasia

by Nataliya Y. Kalinchenko, Olga O. Golounina, Tatiana A. Grebennikova, Galina A. Melnichenko, Anatoly N. Tiulpakov, Zhanna E. Belaya
Published 2019-11-01

First description of a type v osteogenesis imperfecta clinical case with severe skeletal deformities caused by a mutation p.119C> T in IFITM5 gene in Russia

by Tatiana A. Grebennikova, Alina O. Gavrilova, Anatoly N. Tiulpakov, Natalya V. Tarbaeva, Zhanna E. Belaya, Galina A. Melnichenko
Published 2020-02-01

Genetic parameters of wound healing in patients with neuropatic diabetic foot ulcers

by Ekaterina L. Zaitseva, Alla Y. Tokmakova, Iya A. Voronkova, Vasily M. Petrov, Anatoly N. Tiulpakov, Marina V. Shestakova
Published 2017-12-01

Generation of an induced pluripotent stem cell line HPCASRi002-A from a patient with neonatal severe primary hyperparathyroidism caused by a compound heterozygous mutation in the C...

by Alexandra V. Panova, Kristina S. Kulikova, Natalia V. Klementieva, Ivan D. Krylov, Irina O. Snezhko, Anatoly N. Tiulpakov, Sergey L. Kiselev
Published 2021-07-01

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

by Natalia A. Zubkova, Petr M. Rubtsov, Liudmila I. Ibragimova, Nina A. Makretskaya, Evgeny V. Vasilyev, Vasily M. Petrov, Anatoly N. Tiulpakov
Published 2019-06-01

Monogenic diabetes associated with PAX4 gene mutations (MODY9): first description in Russia

by Natalya A. Zubkova, Olesya A. Gioeva, Vasiliy M. Petrov, Evgeny V. Vasiliev, Alexei V. Timofeev, Anna V. Abrukova, Anatoly N. Tiulpakov
Published 2017-12-01

Generation of an induced pluripotent stem cell line MNDINSi001-A from a patient with neonatal diabetes caused by a heterozygous INS mutation

by Alexandra V. Panova, Natalia V. Klementieva, Anna V. Sycheva, Daria V. Goliusova, Nikolay V. Khokhlov, Natalia A. Zubkova, Anatoly N. Tiulpakov, Sergey L. Kiselev
Published 2020-08-01

Erratum: a synonymous variant in GCK gene as a cause of gestational diabetes mellitus (diabetes mellitus. 2019;22(2). Doi: 10.14341/dm9938)

by Natalia A. Zubkova, Petr M. Rubtsov, Fatima F. Burumkulova, Liudmila I. Ibragimova, Nina A. Makretskaya, Evgeny V. Vasilyev, Vasily M. Petrov, Anatoly N. Tiulpakov
Published 2019-10-01

Birth weight and length in offsprings of mothers with gestational diabetes mellitus due to mutations in GCK gene

by Natalia A. Zubkova, Fatima F. Burumkulova, Victoria I. Ulyatovskaya, Vasily A. Petrukhin, Margarita A. Plechanova, Anton E. Panov, Tatiana S. Budykina, Nina A. Makretskaya, Anatoly N. Tiulpakov
Published 2018-05-01

Differential diagnostic utilities of combined testing for islet cell antibody, glutamic acid decarboxylase antibody, and tyrosine phosphatase antibody

by Alexei V. Timofeev, Igor E. Koltunov, Elena E. Petriaikina, Irina G. Rybkina, Lubov N. Samsonova, Anatoly N. Tiulpakov, Natalia A. Zubkova, Irina G. Kolomina, Evgenia A. Evsjukova, Sergey S. Bukin, Alexey C. Khrushchev
Published 2018-05-01