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Items: 11

1.

Variations in the 3'UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia.

Neocleous V, Fanis P, Toumba M, Phedonos AAP, Picolos M, Andreou E, Kyriakides TC, Tanteles GA, Shammas C, Phylactou LA, Skordis N.

Int J Endocrinol. 2017;2017:8984365. doi: 10.1155/2017/8984365. Epub 2017 Apr 12.

2.

Direct Molecular Diagnosis of CYP21A2 Point Mutations in Macedonian and Serbian Patients with 21-Hydroxylase Deficiency.

Anastasovska V, Milenković T, Kocova M.

J Med Biochem. 2015 Jan;34(1):52-57. doi: 10.2478/jomb-2014-0048. Epub 2014 Oct 8.

3.

Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations.

Bruque CD, Delea M, Fernández CS, Orza JV, Taboas M, Buzzalino N, Espeche LD, Solari A, Luccerini V, Alba L, Nadra AD, Dain L.

Sci Rep. 2016 Dec 14;6:39082. doi: 10.1038/srep39082.

4.

The Presence of Clitoromegaly in the Nonclassical Form of 21-Hydroxylase Deficiency Could Be Partially Modulated by the CAG Polymorphic Tract of the Androgen Receptor Gene.

Moura-Massari VO, Cunha FS, Gomes LG, Bugano Diniz Gomes D, Marcondes JA, Madureira G, de Mendonca BB, Bachega TA.

PLoS One. 2016 Feb 5;11(2):e0148548. doi: 10.1371/journal.pone.0148548. eCollection 2016.

5.

Nonclassic congenital adrenal hyperplasia misdiagnosed as Turner syndrome.

Mishra VV, Pritti K, Aggarwal R, Choudhary S.

J Hum Reprod Sci. 2015 Oct-Dec;8(4):239-41. doi: 10.4103/0974-1208.170416.

6.

Genotype-phenotype correlation in 153 adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: analysis of the United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE) cohort.

Krone N, Rose IT, Willis DS, Hodson J, Wild SH, Doherty EJ, Hahner S, Parajes S, Stimson RH, Han TS, Carroll PV, Conway GS, Walker BR, MacDonald F, Ross RJ, Arlt W; United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE).

J Clin Endocrinol Metab. 2013 Feb;98(2):E346-54. doi: 10.1210/jc.2012-3343. Epub 2013 Jan 21.

7.

Recommendations for treatment of nonclassic congenital adrenal hyperplasia (NCCAH): an update.

Trapp CM, Oberfield SE.

Steroids. 2012 Mar 10;77(4):342-6. doi: 10.1016/j.steroids.2011.12.009. Epub 2011 Dec 13. Review.

8.

Guidelines for the Development of Comprehensive Care Centers for Congenital Adrenal Hyperplasia: Guidance from the CARES Foundation Initiative.

Auchus RJ, Witchel SF, Leight KR, Aisenberg J, Azziz R, Bachega TA, Baker LA, Baratz AB, Baskin LS, Berenbaum SA, Breault DT, Cerame BI, Conway GS, Eugster EA, Fracassa S, Gearhart JP, Geffner ME, Harris KB, Hurwitz RS, Katz AL, Kalro BN, Lee PA, Alger Lin G, Loechner KJ, Marshall I, Merke DP, Migeon CJ, Miller WL, Nenadovich TL, Oberfield SE, Pass KA, Poppas DP, Lloyd-Puryear MA, Quigley CA, Riepe FG, Rink RC, Rivkees SA, Sandberg DE, Schaeffer TL, Schlussel RN, Schneck FX, Seely EW, Snyder D, Speiser PW, Therrell BL, Vanryzin C, Vogiatzi MG, Wajnrajch MP, White PC, Zuckerman AE.

Int J Pediatr Endocrinol. 2010;2010:275213. doi: 10.1155/2010/275213. Epub 2011 Jan 10.

9.

Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline.

Speiser PW, Azziz R, Baskin LS, Ghizzoni L, Hensle TW, Merke DP, Meyer-Bahlburg HF, Miller WL, Montori VM, Oberfield SE, Ritzen M, White PC; Endocrine Society.

J Clin Endocrinol Metab. 2010 Sep;95(9):4133-60. doi: 10.1210/jc.2009-2631. Erratum in: J Clin Endocrinol Metab. 2010 Nov;95(11):5137.

10.

High frequency of copy number variations and sequence variants at CYP21A2 locus: implication for the genetic diagnosis of 21-hydroxylase deficiency.

Parajes S, Quinteiro C, Domínguez F, Loidi L.

PLoS One. 2008 May 14;3(5):e2138. doi: 10.1371/journal.pone.0002138.

11.

Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.

Wilson RC, Nimkarn S, Dumic M, Obeid J, Azar MR, Najmabadi H, Saffari F, New MI.

Mol Genet Metab. 2007 Apr;90(4):414-21. Epub 2007 Feb 1. Erratum in: Mol Genet Metab. 2008 Feb;93(2):219. Azar, Maryam [corrected to Azar, Maryam Razzaghy].

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