Showing 1 - 18 results of 18 for search 'Anatoly N. Tiulpakov', query time: 0.05s Refine Results
  1. 1
    Hypophosphatemic rickets: pathogenesis, diagnosis and treatment

    Hypophosphatemic rickets: pathogenesis, diagnosis and treatment by Kristina S. Kulikova, Anatoly N. Tiulpakov

    Published 2018-07-01
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  2. 2
    Inherited and acquired lipodystrophies: molecular-genetic and autoimmune mechanisms

    Inherited and acquired lipodystrophies: molecular-genetic and autoimmune mechanisms by Ekaterina L. Sorkina, Anatoly N. Tiulpakov

    Published 2018-04-01
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  3. 3
    Severe Wolcott-Rallison syndrome due to a nonsense mutation in the first exon EIF2AK3

    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
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  4. 4
    Osteogenesis imperfecta as a cause of death

    Osteogenesis imperfecta as a cause of death by Anastasia A. Malygina, Tatiana A. Grebennikova, Anatoly N. Tiulpakov, Zhanna E. Belaya

    Published 2018-04-01
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  5. 5
    Metabolic changes in patients with familial pituitary adenomas associated with mutations in the AIP gene

    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 2017-03-01
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  6. 6
    Late consequences of classic congenital adrenal hyperplasia and its long-term poor control in men (case report and literature review)

    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 2019-12-01
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  7. 7
    Rare genetic diseases of the bone tissue: the case of a family with osteogenesis imperfecta and X-linked hypophosphataemia

    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
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  8. 8
    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

    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
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  9. 9
    Clinical application experience of asfotase alfa for a young patient with childhood hypophosphatasia

    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
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  10. 10
    Genetic parameters of wound healing in patients with neuropatic diabetic foot ulcers

    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
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  11. 11
    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 CASR gene

    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
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  12. 12
    Monogenic diabetes associated with PAX4 gene mutations (MODY9): first description in Russia

    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
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  13. 13
    Generation of an induced pluripotent stem cell line MNDINSi001-A from a patient with neonatal diabetes caused by a heterozygous INS mutation

    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
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  14. 14
    A synonymous variant in GCK gene as a cause of gestational diabetes mellitus

    A synonymous variant in GCK gene as a cause of gestational diabetes mellitus 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 2019-06-01
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  15. 15
    Erratum: a synonymous variant in GCK gene as a cause of gestational diabetes mellitus (diabetes mellitus. 2019;22(2). Doi: 10.14341/dm9938)

    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
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  16. 16
    Birth weight and length in offsprings of mothers with gestational diabetes mellitus due to mutations in GCK gene

    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
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  17. 17
    Aberrant Splicing of <i>INS</i> Impairs Beta-Cell Differentiation and Proliferation by ER Stress in the Isogenic iPSC Model of Neonatal Diabetes

    Aberrant Splicing of <i>INS</i> Impairs Beta-Cell Differentiation and Proliferation by ER Stress in the Isogenic iPSC Model of Neonatal Diabetes by Alexandra V. Panova, Natalia V. Klementieva, Anna V. Sycheva, Elena V. Korobko, Anastasia O. Sosnovtseva, Tatiana S. Krasnova, Maria R. Karpova, Petr M. Rubtsov, Yulia V. Tikhonovich, Anatoly N. Tiulpakov, Sergey L. Kiselev

    Published 2022-08-01
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  18. 18
    Differential diagnostic utilities of combined testing for islet cell antibody, glutamic acid decarboxylase antibody, and tyrosine phosphatase antibody

    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
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