Dedov I - Search Results

1

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

Rubtsov P, Nizhnik A, Dedov I, Kalinchenko N, Petrov V, Orekhova A, Spirin P, Prassolov V, Tiulpakov A. Rubtsov P, et al. Among authors: dedov i. Eur J Endocrinol. 2015 May;172(5):K19-25. doi: 10.1530/EJE-14-0834. Epub 2015 Feb 3. Eur J Endocrinol. 2015. PMID: 25650406

2

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

Orekhova AS, Kalinchenko N, Morozov IA, Vasilyev EV, Rubtsov PM, Dedov II, Tiulpakov A. Orekhova AS, et al. Among authors: dedov ii. Horm Res Paediatr. 2018;89(6):450-454. doi: 10.1159/000481776. Epub 2017 Nov 17. Horm Res Paediatr. 2018. PMID: 29151085

3

A potential rearrangement between CYP19 and TRPM7 genes on chromosome 15q21.2 as a cause of aromatase excess syndrome.

Tiulpakov A, Kalintchenko N, Semitcheva T, Polyakov A, Dedov I, Sverdlova P, Kolesnikova G, Peterkova V, Rubtsov P. Tiulpakov A, et al. Among authors: dedov i. J Clin Endocrinol Metab. 2005 Jul;90(7):4184-90. doi: 10.1210/jc.2004-2176. Epub 2005 Apr 5. J Clin Endocrinol Metab. 2005. PMID: 15811932

4

A novel C-terminal growth hormone receptor (GHR) mutation results in impaired GHR-STAT5 but normal STAT-3 signaling.

Tiulpakov A, Rubtsov P, Dedov I, Peterkova V, Bezlepkina O, Chrousos GP, Hochberg Z. Tiulpakov A, et al. Among authors: dedov i. J Clin Endocrinol Metab. 2005 Jan;90(1):542-7. doi: 10.1210/jc.2003-2133. Epub 2004 Nov 9. J Clin Endocrinol Metab. 2005. PMID: 15536163

5

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

Mamedova E, Mokrysheva N, Vasilyev E, Petrov V, Pigarova E, Kuznetsov S, Kuznetsov N, Rozhinskaya L, Melnichenko G, Dedov I, Tiulpakov A. Mamedova E, et al. Among authors: dedov i. Endocr Connect. 2017 Nov;6(8):557-565. doi: 10.1530/EC-17-0126. Epub 2017 Sep 4. Endocr Connect. 2017. PMID: 28870973 Free PMC article.

6

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

Makretskaya N, Bezlepkina O, Kolodkina A, Kiyaev A, Vasilyev EV, Petrov V, Kalinenkova S, Malievsky O, Dedov II, Tiulpakov A. Makretskaya N, et al. Among authors: dedov ii. PLoS One. 2018 Sep 21;13(9):e0204323. doi: 10.1371/journal.pone.0204323. eCollection 2018. PLoS One. 2018. PMID: 30240412 Free PMC article.

7

A case of severe hyperaldosteronism caused by a de novo mutation affecting a critical salt bridge Kir3.4 residue.

Monticone S, Bandulik S, Stindl J, Zilbermint M, Dedov I, Mulatero P, Allgaeuer M, Lee CC, Stratakis CA, Williams TA, Tiulpakov A. Monticone S, et al. Among authors: dedov i. J Clin Endocrinol Metab. 2015 Jan;100(1):E114-8. doi: 10.1210/jc.2014-3636. J Clin Endocrinol Metab. 2015. PMID: 25322277 Free PMC article.

8

[New mutation in the CYP17 gene: description of a case].

Dzeranova LK, Tyulpakov AN, Pigarova YA, Rubtsov PM, Artemova AM, Vorontsov AV, Yarovaya IS, Rozhinskaya LY, Dedov II. Dzeranova LK, et al. Among authors: dedov ii. Probl Endokrinol (Mosk). 2006 Dec 15;52(6):41-45. doi: 10.14341/probl200652641-45. Probl Endokrinol (Mosk). 2006. PMID: 31627669 Russian.

9

Mutations of Vasopressin Receptor 2 Including Novel L312S Have Differential Effects on Trafficking.

Tiulpakov A, White CW, Abhayawardana RS, See HB, Chan AS, Seeber RM, Heng JI, Dedov I, Pavlos NJ, Pfleger KD. Tiulpakov A, et al. Among authors: dedov i. Mol Endocrinol. 2016 Aug;30(8):889-904. doi: 10.1210/me.2016-1002. Epub 2016 Jun 29. Mol Endocrinol. 2016. PMID: 27355191 Free PMC article.

10

Diagnosis and treatment challenges of parathyroid carcinoma in a 27-year-old woman with multiple lung metastases.

Rozhinskaya L, Pigarova E, Sabanova E, Mamedova E, Voronkova I, Krupinova J, Dzeranova L, Tiulpakov A, Gorbunova V, Orel N, Zalian A, Melnichenko G, Dedov I. Rozhinskaya L, et al. Among authors: dedov i. Endocrinol Diabetes Metab Case Rep. 2017 Mar 13;2017:16-0113. doi: 10.1530/EDM-16-0113. eCollection 2017. Endocrinol Diabetes Metab Case Rep. 2017. PMID: 28458892 Free PMC article.

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