All Stories

  1. Late Diagnosis of POMC Deficiency and in vitro evidence of residual translation from allele with c.-11C>A mutation

    Article • The Journal of Clinical Endocrinology & Metabolism, December 2016, Endocrine Society

    Dr Anatoly Tiulpakov, Dr. Petr M Rubtsov, Prof Sergey E Dmitriev, Ms. Aleksandra S Anisimova

  2. Gene panel study for familial pituitary adenoma

    Article • May 2015

    Dr Anatoly Tiulpakov

  3. Mutation in CDKN1B 3[prime]-UTR region in a patient with acromegaly and primary hyperparathyroidism

    Article • May 2015

    Dr Anatoly Tiulpakov

  4. Partial deficiency of 17 -hydroxylase/17,20-lyase caused by a novel missense mutation in the canonical cytochrome heme-interacting motif

    Article • European Journal of Endocrinology, February 2015, Bioscientifica

    Dr Anatoly Tiulpakov, Dr. Petr M Rubtsov

  5. A Case of Severe Hyperaldosteronism Caused by a De Novo Mutation Affecting a Critical Salt Bridge Kir3.4 Residue

    Article • The Journal of Clinical Endocrinology & Metabolism, January 2015, Endocrine Society

    Dr Anatoly Tiulpakov

  6. An unusual case of diabetes mellitus as a result of heterozygous missense mutation R482W in LMNA gene (familial partial lipodystrophy type 2), described for the first time in Russian population

    Article • April 2014

    Dr Anatoly Tiulpakov

  7. Unusual case of polycystic ovary syndrome (PCOS) and gestational diabetes as a result of familial partial lipodystrophy type 2 (FPLD2) due to heterozygous missense mutation R482W in LMNA gene, described for the first time in Russian population

    Article • Experimental and Clinical Endocrinology & Diabetes, March 2014, Thieme Publishing Group

    Dr Anatoly Tiulpakov

  8. Diagnosis of medullary thyroid cancer and prognostic factors of disease aggressiveness

    Article • Endocrine Surgery, December 2013, Endocrinology Research Centre

    Dr Anatoly Tiulpakov

  9. The clinical characteristics of primary hyperparathyroidism (PHPT) in patients with multiple endocrine neoplasia (MEN) type 1

    Article • March 2013

    Dr Anatoly Tiulpakov, Dr Liliya Rostomyan

  10. Molecular-genetic verification and treatment of neonatal diabetes mellitus related to the defects in ATP-dependent potassium channels: Results of the observation of 9 patients and the first description of ABCC8 gene mutations in Russia

    Article • Problems of Endocrinology, April 2011, Endocrinology Research Centre

    Dr Anatoly Tiulpakov

  11. Characterization of D150E and G196D aquaporin-2 mutations responsible for nephrogenic diabetes insipidus: importance of a mild phenotype

    Article • AJP Renal Physiology, May 2009, American Physiological Society

    Dr Anatoly Tiulpakov, M.D. DANIEL G BICHET

  12. A Novel Homozygous Mutation inCYP11A1Gene Is Associated with Late-Onset Adrenal Insufficiency and Hypospadias in a 46,XY Patient

    Article • The Journal of Clinical Endocrinology & Metabolism, March 2009, Endocrine Society

    Dr Anatoly Tiulpakov, Dr. Petr M Rubtsov

  13. Brx Mediates the Response of Lymphocytes to Osmotic Stress Through the Activation of NFAT5

    Article • Science Signaling, February 2009, American Association for the Advancement of Science

    Dr Anatoly Tiulpakov

  14. A Familial Insulin-Like Growth Factor-I Receptor Mutant Leads to Short Stature: Clinical and Biochemical Characterization

    Article • The Journal of Clinical Endocrinology & Metabolism, April 2007, Endocrine Society

    Dr Anatoly Tiulpakov, Dr. Petr M Rubtsov

  15. Four Novel Missense Mutations in theCYP21A2Gene Detected in Russian Patients Suffering from the Classical Form of Congenital Adrenal Hyperplasia: Identification, Functional Characterization, and Structural Analysis

    Article • The Journal of Clinical Endocrinology & Metabolism, December 2006, Endocrine Society

    Dr Anatoly Tiulpakov, Dr. Petr M Rubtsov

  16. Treatment of familial male-limited precocious puberty with bicalutamide and anastrozole

    Article • The Journal of Pediatrics, September 2006, Elsevier

    Dr Anatoly Tiulpakov

  17. Novel Mutations within thePOU1F1Gene Associated with Variable Combined Pituitary Hormone Deficiency

    Article • The Journal of Clinical Endocrinology & Metabolism, August 2005, Endocrine Society

    Dr Alexandru SAVEANU, Dr Anatoly Tiulpakov

  18. A Potential Rearrangement between CYP19 and TRPM7 Genes on Chromosome 15q21.2 as a Cause of Aromatase Excess Syndrome

    Article • The Journal of Clinical Endocrinology & Metabolism, July 2005, Endocrine Society

    Dr Anatoly Tiulpakov, Dr. Petr M Rubtsov

  19. Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD)

    Article • Clinical Endocrinology, July 2005, Wiley

    Dr Anatoly Tiulpakov

  20. A Novel Point Mutation in the Ligand-Binding Domain (LBD) of the Human Glucocorticoid Receptor (hGR) Causing Generalized Glucocorticoid Resistance: The Importance of the C Terminus of hGR LBD in Conferring Transactivational Activity

    Article • The Journal of Clinical Endocrinology & Metabolism, June 2005, Endocrine Society

    Dr Anatoly Tiulpakov

  21. Thirteen novel mutations in theNR0B1(DAX1) gene as cause of adrenal hypoplasia congenita

    Article • Human Mutation, April 2005, Wiley

    Dr Anatoly Tiulpakov

  22. A Novel C-Terminal Growth Hormone Receptor (GHR) Mutation Results in Impaired GHR-STAT5 But Normal STAT-3 Signaling

    Article • The Journal of Clinical Endocrinology & Metabolism, January 2005, Endocrine Society

    Dr Anatoly Tiulpakov, Dr. Petr M Rubtsov

  23. Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED

    Article • Human Mutation, August 2001, Wiley

    Dr Anatoly Tiulpakov

  24. Growth Hormone Insensitivity (Laron Syndrome) in a Russian Girl of Slavic Origin Caused by a Common Mutation of the GH Receptor Gene

    Article • International Journal on Disability and Human Development, January 1999, De Gruyter

    Dr Anatoly Tiulpakov

  25. Growth in children with craniopharyngioma following surgery

    Article • Clinical Endocrinology, December 1998, Wiley

    Dr Anatoly Tiulpakov

  26. Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome

    Article • Human Genetics, November 1998, Springer Science + Business Media

    Dr Anatoly Tiulpakov

  27. Characterization of GH secretory ability of GH deficient children: Response to MK-0677

    Article • Growth Hormone & IGF Research, August 1998, Elsevier

    Dr Anatoly Tiulpakov

  28. Androgens and Fetal Growth

    Article • Hormone Research in Paediatrics, January 1998, Karger Publishers

    Dr Anatoly Tiulpakov

  29. GH responses to intravenous bolus infusions of GH releasing hormone and GH releasing peptide 2 separately and in combination in adult volunteers

    Article • Clinical Endocrinology, September 1995, Wiley

    Dr Anatoly Tiulpakov