1644925 26804566 9215318 24071710 26206692 22156666 21329531 20661889 20926536 25553759 27041116 16427797 23142378 10790214 33809035 30889569 31586465 30968594 32965796 32289882 15670187 14502362 19778530 18039588 19347184 20970527 19961824 19624807 - Search Results

Year	Number of Results
1991	1
1992	1
1997	1
2000	1
2003	1
2004	1
2005	1
2006	3
2007	2
2008	2
2009	6
2010	7
2011	7
2012	4
2013	4
2014	2
2015	4
2016	2
2017	2
2019	3
2020	2
2021	2
2024	0

1

Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Speiser PW, Dupont J, Zhu D, Serrat J, Buegeleisen M, Tusie-Luna MT, Lesser M, New MI, White PC. Speiser PW, et al. J Clin Invest. 1992 Aug;90(2):584-95. doi: 10.1172/JCI115897. J Clin Invest. 1992. PMID: 1644925 Free PMC article.

2

21-hydroxylase deficiency-induced congenital adrenal hyperplasia in 230 Chinese patients: Genotype-phenotype correlation and identification of nine novel mutations.

Wang R, Yu Y, Ye J, Han L, Qiu W, Zhang H, Liang L, Gong Z, Wang L, Gu X. Wang R, et al. Steroids. 2016 Apr;108:47-55. doi: 10.1016/j.steroids.2016.01.007. Epub 2016 Jan 21. Steroids. 2016. PMID: 26804566

3

Molecular basis of nonclassical steroid 21-hydroxylase deficiency detected by neonatal mass screening in Japan.

Tajima T, Fujieda K, Nakae J, Toyoura T, Shimozawa K, Kusuda S, Goji K, Nagashima T, Cutler GB Jr. Tajima T, et al. J Clin Endocrinol Metab. 1997 Jul;82(7):2350-6. doi: 10.1210/jcem.82.7.4094. J Clin Endocrinol Metab. 1997. PMID: 9215318

4

Comprehensive mutation analysis of the CYP21A2 gene: an efficient multistep approach to the molecular diagnosis of congenital adrenal hyperplasia.

Xu Z, Chen W, Merke DP, McDonnell NB. Xu Z, et al. J Mol Diagn. 2013 Nov;15(6):745-53. doi: 10.1016/j.jmoldx.2013.06.001. Epub 2013 Sep 23. J Mol Diagn. 2013. PMID: 24071710 Free PMC article.

5

CYP21A2 mutation analysis in Korean patients with congenital adrenal hyperplasia using complementary methods: sequencing after long-range PCR and restriction fragment length polymorphism analysis with multiple ligation-dependent probe amplification assay.

Hong G, Park HD, Choi R, Jin DK, Kim JH, Ki CS, Lee SY, Song J, Kim JW. Hong G, et al. Ann Lab Med. 2015 Sep;35(5):535-9. doi: 10.3343/alm.2015.35.5.535. Ann Lab Med. 2015. PMID: 26206692 Free PMC article.

6

Junction site analysis of chimeric CYP21A1P/CYP21A2 genes in 21-hydroxylase deficiency.

Chen W, Xu Z, Sullivan A, Finkielstain GP, Van Ryzin C, Merke DP, McDonnell NB. Chen W, et al. Clin Chem. 2012 Feb;58(2):421-30. doi: 10.1373/clinchem.2011.174037. Epub 2011 Dec 7. Clin Chem. 2012. PMID: 22156666 Free PMC article.

7

Ethnic disparity in 21-hydroxylase gene mutations identified in Pakistani congenital adrenal hyperplasia patients.

Khan AH, Aban M, Raza J, Ul Haq N, Jabbar A, Moatter T. Khan AH, et al. BMC Endocr Disord. 2011 Feb 18;11:5. doi: 10.1186/1472-6823-11-5. BMC Endocr Disord. 2011. PMID: 21329531 Free PMC article.

8

Carrier detection and prenatal diagnosis of congenital adrenal hyperplasia must identify 'apparently mild' CYP21A2 alleles which associate neonatal salt-wasting disease.

Ezquieta B, Santomé L, Barrio R, Barrionuevo JL, López-Siguero JP, Oliver A, Ramírez J, Rodríguez I, Muñoz-Pacheco R. Ezquieta B, et al. Prenat Diagn. 2010 Aug;30(8):758-63. doi: 10.1002/pd.2537. Prenat Diagn. 2010. PMID: 20661889

9

Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Finkielstain GP, Chen W, Mehta SP, Fujimura FK, Hanna RM, Van Ryzin C, McDonnell NB, Merke DP. Finkielstain GP, et al. J Clin Endocrinol Metab. 2011 Jan;96(1):E161-72. doi: 10.1210/jc.2010-0319. Epub 2010 Oct 6. J Clin Endocrinol Metab. 2011. PMID: 20926536 Free PMC article.

10

Gonadotropin releasing hormone analog treatment in children with congenital adrenal hyperplasia complicated by central precocious puberty.

Güven A, Nurcan Cebeci A, Hancili S. Güven A, et al. Hormones (Athens). 2015 Apr-Jun;14(2):265-71. doi: 10.14310/horm.2002.1555. Hormones (Athens). 2015. PMID: 25553759 Free article.

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