Below are the most recent publications written about "Steroid 21-Hydroxylase" by people in Profiles.
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Dumic KK, Grubic Z, Yuen T, Wilson RC, Kusec V, Barisic I, Stingl K, Sansovic I, Skrabic V, Dumic M, New MI. Molecular genetic analysis in 93 patients and 193 family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia. J Steroid Biochem Mol Biol. 2017 01; 165(Pt A):51-56.
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New MI, Abraham M, Gonzalez B, Dumic M, Razzaghy-Azar M, Chitayat D, Sun L, Zaidi M, Wilson RC, Yuen T. Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Proc Natl Acad Sci U S A. 2013 Feb 12; 110(7):2611-6.
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Bas F, Kayserili H, Darendeliler F, Uyguner O, Günöz H, Yüksel Apak M, Atalar F, Bundak R, Wilson RC, New MI, Wollnik B, Saka N. CYP21A2 gene mutations in congenital adrenal hyperplasia: genotype-phenotype correlation in Turkish children. J Clin Res Pediatr Endocrinol. 2009; 1(3):116-28.
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Wilson RC, Nimkarn S, Dumic M, Obeid J, Azar MR, Azar M, Najmabadi H, Saffari F, New MI. Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Mol Genet Metab. 2007 Apr; 90(4):414-21.
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Keen-Kim D, Redman JB, Alanes RU, Eachus MM, Wilson RC, New MI, Nakamoto JM, Fenwick RG. Validation and clinical application of a locus-specific polymerase chain reaction- and minisequencing-based assay for congenital adrenal hyperplasia (21-hydroxylase deficiency). J Mol Diagn. 2005 May; 7(2):236-46.
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Chemaitilly W, Betensky BP, Marshall I, Wei JQ, Wilson RC, New MI. The natural history and genotype-phenotype nonconcordance of HLA identical siblings with the same mutations of the 21-hydroxylase gene. J Pediatr Endocrinol Metab. 2005 Feb; 18(2):143-53.
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Dumic M, Ille J, Zunec R, Plavsic V, Francetic I, Skrabic V, Janjanin N, Spehar A, Wei J, Wilson RC, New MI. Nonclassic 21-hydroxylase deficiency in Croatia. J Pediatr Endocrinol Metab. 2004 Feb; 17(2):157-64.
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New MI, Wilson RC. Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess. Proc Natl Acad Sci U S A. 1999 Oct 26; 96(22):12790-7.
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Carlson AD, Obeid JS, Kanellopoulou N, Wilson RC, New MI. Congenital adrenal hyperplasia: update on prenatal diagnosis and treatment. J Steroid Biochem Mol Biol. 1999 Apr-Jun; 69(1-6):19-29.
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Nimkarn S, Cerame BI, Wei JQ, Dumic M, Zunec R, Brkljacic L, Skrabic V, New MI, Wilson RC. Congenital adrenal hyperplasia (21-hydroxylase deficiency) without demonstrable genetic mutations. J Clin Endocrinol Metab. 1999 Jan; 84(1):378-81.