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Items: 1 to 20 of 136

1.

Partial 17alpha-hydroxylase/17,20-lyase deficiency-clinical report of five Chinese 46,XX cases.

Tian Q, Zhang Y, Lu Z.

Gynecol Endocrinol. 2008 Jul;24(7):362-7. doi: 10.1080/09513590802194051.

PMID:
18645707
2.

[Clinical study on 48 cases with complete 17α-hydroxylase deficiency].

Wang HB, Tian QJ, Sun AJ, Yao FX, Kang XD, Zhang Y, Chen R.

Zhonghua Fu Chan Ke Za Zhi. 2012 Jul;47(7):518-21. Chinese.

PMID:
23141163
3.

17α-HYDROXYLASE/17, 20-LYASE DEFICIENCY: CLINICAL AND MOLECULAR CHARACTERIZATION OF EIGHT CHINESE PATIENTS.

Wu C, Fan S, Qian Y, Zhou Y, Jin J, Dai Z, Jiang L.

Endocr Pract. 2017 May;23(5):576-582. doi: 10.4158/EP161610.OR. Epub 2017 Feb 22.

PMID:
28225307
4.

[Incomplete P450 17 alpha enzyme deficiency: report of six cases].

Tian QJ, Zhang YW, Lu ZL, Sha GH, Gao H.

Zhonghua Fu Chan Ke Za Zhi. 2007 Oct;42(10):670-4. Chinese.

PMID:
18241541
5.

New, recurrent, and prevalent mutations: Clinical and molecular characterization of 26 Chinese patients with 17alpha-hydroxylase/17,20-lyase deficiency.

Zhang M, Sun S, Liu Y, Zhang H, Jiao Y, Wang W, Li X.

J Steroid Biochem Mol Biol. 2015 Jun;150:11-6. doi: 10.1016/j.jsbmb.2015.02.007. Epub 2015 Feb 16.

PMID:
25697092
6.

17-alpha-hydroxylase deficiency: a case report with clinical and molecular analysis.

Li H, Qiao J, Guo H.

Gynecol Endocrinol. 2010 Jul;26(7):521-3. doi: 10.3109/09513591003632068.

PMID:
20170344
7.

Loss of cytochrome P450 17A1 protein expression in a 17alpha-hydroxylase/17,20-lyase-deficient 46,XY female caused by two novel mutations in the CYP17A1 gene.

Nájera N, Garibay N, Pastrana Y, Palma I, Peña YR, Pérez J, Coyote N, Hidalgo A, Kofman-Alfaro S, Queipo G.

Endocr Pathol. 2009 Winter;20(4):249-55. doi: 10.1007/s12022-009-9088-9.

PMID:
19728179
8.

A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation.

Kim YM, Kang M, Choi JH, Lee BH, Kim GH, Ohn JH, Kim SY, Park MS, Yoo HW.

Metabolism. 2014 Jan;63(1):42-9. doi: 10.1016/j.metabol.2013.08.015. Epub 2013 Oct 18. Review.

PMID:
24140098
9.

Molecular study of five Chinese patients with 46XX partial 17a-hydroxylase/17,20-lyase deficiency.

Tian Q, Yao F, Zhang Y, Tseng H, Lang J.

Gynecol Endocrinol. 2012 Mar;28(3):234-8. doi: 10.3109/09513590.2011.593665. Epub 2011 Aug 16.

PMID:
21846181
10.

Novel mutation in cytochrome P450c17 causes complete combined 17alpha-hydroxylase/17,20-lyase deficiency.

Bhangoo A, Aisenberg J, Chartoffe A, Ten S, Wallerstein RJ, Wolf R, Auchus RJ.

J Pediatr Endocrinol Metab. 2008 Feb;21(2):185-90.

PMID:
18422032
11.

[Clinical characteristics of 17alpha-hydroxylase/17,20-lyase deficiency and long term follow up results].

Tao H, Lu ZL, Zhang B, Wang Y, Sun ML.

Zhonghua Nei Ke Za Zhi. 2005 Jun;44(6):442-5. Chinese.

PMID:
16008859
12.

A late 17α-hydroxylase deficiency diagnosis that leads to the discovery of a new CYP17 gene mutation.

Guenego A, Morel Y, Ionesco O, Mallet D, Priou-Guesdon M.

Ann Endocrinol (Paris). 2015 Feb;76(1):71-4. doi: 10.1016/j.ando.2014.11.003. Epub 2015 Jan 19.

PMID:
25613935
13.

CYP17A1 mutations identified in 17 Chinese patients with 17α-hydroxylase/17,20-lyase deficiency.

Yao F, Huang S, Kang X, Zhang W, Wang P, Tian Q.

Gynecol Endocrinol. 2013 Jan;29(1):10-5. doi: 10.3109/09513590.2012.705373. Epub 2012 Sep 7. Erratum in: Gynecol Endocrinol. 2013 Jan;29(1):15.

PMID:
22954317
14.

17α-hydroxlyase/17, 20-lyase deficiency in three siblings with primary amenorrhea and absence of secondary sexual development.

Oh YK, Ryoo U, Kim D, Cho SY, Jin DK, Yoon BK, Lee DY, Choi D.

J Pediatr Adolesc Gynecol. 2012 Oct;25(5):e103-5. doi: 10.1016/j.jpag.2012.05.008. Epub 2012 Jul 27.

PMID:
22841373
15.

Clinical and genetic analyses of a Chinese female with 17α-hydroxylase/17,20-lyase deficiency.

Shi M, Chen X, Zhou Q, Shen F.

Gynecol Endocrinol. 2014;30(12):890-3. doi: 10.3109/09513590.2014.943721. Epub 2014 Jul 16.

PMID:
25027547
16.

Clinical and genetic analysis for two Chinese siblings with 17α-hydroxylase/17,20-lyase deficiency.

Zhou Q, Wu C, Wang L, Zheng J, Zheng C, Jin J, Qian Y, Ni L.

Gynecol Endocrinol. 2012 Jun;28(6):455-9. doi: 10.3109/09513590.2011.633648. Epub 2011 Nov 21.

PMID:
22103881
17.

Seventeen alpha-hydroxylase deficiency.

Wong SL, Shu SG, Tsai CR.

J Formos Med Assoc. 2006 Feb;105(2):177-81.

18.

Delayed Diagnosis of a 17-Hydroxylase/17,20-Lyase Deficient Patient Presenting as a 46,XY Female: A Low Normal Potassium Level Can Be an Alerting Diagnostic Sign.

Çamtosun E, Şıklar Z, Ceylaner S, Kocaay P, Berberoğlu M.

J Clin Res Pediatr Endocrinol. 2017 Jun 1;9(2):163-167. doi: 10.4274/jcrpe.3839. Epub 2016 Dec 23.

19.

17α-HYDROXYLASE DEFICIENCY IS AN UNDERDIAGNOSED DISEASE: HIGH FREQUENCY OF MISDIAGNOSES IN A LARGE COHORT OF BRAZILIAN PATIENTS.

Fontenele R, Costa-Santos M, Kater CE.

Endocr Pract. 2018 Feb;24(2):170-178. doi: 10.4158/EP171987.OR. Epub 2017 Nov 16.

PMID:
29144824
20.

Phenotype-genotype correlation in eight Chinese 17alpha-hydroxylase/17,20 lyase-deficiency patients with five novel mutations of CYP17A1 gene.

Yang J, Cui B, Sun S, Shi T, Zheng S, Bi Y, Liu J, Zhao Y, Chen J, Ning G, Li X.

J Clin Endocrinol Metab. 2006 Sep;91(9):3619-25. Epub 2006 Jun 13.

PMID:
16772352

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