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The coincidence of two rare diseases with opposite metabolic phenotype: a child with congenital hyperinsulinism and Bloom syndrome.
Melikyan M, Gubaeva D, Nikitina I, Ryzhkova D, Mitrofanova L, Yukhacheva D, Pershin D, Shcherbina A, Vasilyev E, Proshchina A, Krivova Y, Tiulpakov A. Melikyan M, et al. Among authors: tiulpakov a. J Pediatr Endocrinol Metab. 2021 Oct 27;35(3):405-409. doi: 10.1515/jpem-2021-0464. Print 2022 Mar 28. J Pediatr Endocrinol Metab. 2021. PMID: 34700371
A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation.
Hussain I, Patni N, Ueda M, Sorkina E, Valerio CM, Cochran E, Brown RJ, Peeden J, Tikhonovich Y, Tiulpakov A, Stender SRS, Klouda E, Tayeh MK, Innis JW, Meyer A, Lal P, Godoy-Matos AF, Teles MG, Adams-Huet B, Rader DJ, Hegele RA, Oral EA, Garg A. Hussain I, et al. Among authors: tiulpakov a. J Clin Endocrinol Metab. 2018 Mar 1;103(3):1005-1014. doi: 10.1210/jc.2017-02078. J Clin Endocrinol Metab. 2018. PMID: 29267953 Free PMC article.
[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].
Mamedova EO, Vasilyev EV, Petrov VM, Izmailova NS, Buryakina SA, Rozhinskaya LY, Tiulpakov AN, Belaya ZE. Mamedova EO, et al. Among authors: tiulpakov an. Probl Endokrinol (Mosk). 2019 Jun 30;65(2):89-94. doi: 10.14341/probl9712. Probl Endokrinol (Mosk). 2019. PMID: 31271710 Russian.
[Clinical and molecular genetic features of cases of isolated hypogonadotropic hypogonadism, associated with defects in GNRHR genes].
Makretskaya NA, Gerasimova MV, Vasilyev EV, Zubkova NA, Kalinchenko NY, Kolodkina AA, Petrov VM, Pogoda TV, Panova AV, Frolova EB, Poliakov AV, Tiulpakov AN. Makretskaya NA, et al. Among authors: tiulpakov an. Probl Endokrinol (Mosk). 2021 May 1;67(3):62-67. doi: 10.14341/probl12746. Probl Endokrinol (Mosk). 2021. PMID: 34297503 Free PMC article. Russian.
Insulinoma in childhood: a retrospective review of 22 patients from one referral centre.
Melikyan M, Gubaeva D, Shadrina A, Bolmasova A, Kareva M, Tiulpakov A, Efremenkov A, Sokolov Y, Brusgaard K, Christesen HT, Andersen K, Stepanov A, Averyanova J, Makarov S, Gurevich L. Melikyan M, et al. Among authors: tiulpakov a. Front Endocrinol (Lausanne). 2023 Apr 19;14:1127173. doi: 10.3389/fendo.2023.1127173. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37152923 Free PMC article.
Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia: identification, functional characterization, and structural analysis.
Grischuk Y, Rubtsov P, Riepe FG, Grötzinger J, Beljelarskaia S, Prassolov V, Kalintchenko N, Semitcheva T, Peterkova V, Tiulpakov A, Sippell WG, Krone N. Grischuk Y, et al. Among authors: tiulpakov a. J Clin Endocrinol Metab. 2006 Dec;91(12):4976-80. doi: 10.1210/jc.2006-0777. Epub 2006 Sep 19. J Clin Endocrinol Metab. 2006. PMID: 16984992
77 results