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6. Only two mutations detected in 15 Tunisian patients with 11β-hydroxylase deficiency: the p.Q356X and the novel p.G379V. Kharrat M; Trabelsi S; Chaabouni M; Maazoul F; Kraoua L; Ben Jemaa L; Gandoura N; Barsaoui S; Morel Y; M'rad R; Chaabouni H Clin Genet; 2010 Oct; 78(4):398-401. PubMed ID: 20331679 [TBL] [Abstract][Full Text] [Related]
7. A homozygous L299P mutation in the CYP11B1 gene leads to complete virilization in 46,XX individuals with 11-beta-hydroxylase deficiency. Riedl S; Nguyen HH; Clausmeyer S; Schulze E; Waldhauser F; Bernhardt R Horm Res; 2008; 70(3):145-9. PubMed ID: 18663314 [TBL] [Abstract][Full Text] [Related]
8. Two novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11β hydroxylase deficiency in a Tunisian family. Ben Charfeddine I; Riepe FG; Kahloul N; Kulle AE; Adala L; Mamaï O; Amara A; Mili A; Amri F; Saad A; Holterhus PM; Gribaa M Gen Comp Endocrinol; 2012 Feb; 175(3):514-8. PubMed ID: 22210247 [TBL] [Abstract][Full Text] [Related]
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10. Splicing analysis of CYP11B1 mutation in a family affected with 11β-hydroxylase deficiency: case report. Charnwichai P; Yeetong P; Suphapeetiporn K; Supornsilchai V; Sahakitrungruang T; Shotelersuk V BMC Endocr Disord; 2016 Jun; 16(1):37. PubMed ID: 27316665 [TBL] [Abstract][Full Text] [Related]
11. Novel missense mutations, GCC [Ala306]- > GTC [Val] and ACG [Thr318]- > CCG [Pro], in the CYP11B1 gene cause steroid 11beta-hydroxylase deficiency in the Chinese. Lee HH; Won GS; Chao HT; Lee YJ; Chung BC Clin Endocrinol (Oxf); 2005 Apr; 62(4):418-22. PubMed ID: 15807871 [TBL] [Abstract][Full Text] [Related]
12. Deletion hybrid genes, due to unequal crossing over between CYP11B1 (11beta-hydroxylase) and CYP11B2(aldosterone synthase) cause steroid 11beta-hydroxylase deficiency and congenital adrenal hyperplasia. Portrat S; Mulatero P; Curnow KM; Chaussain JL; Morel Y; Pascoe L J Clin Endocrinol Metab; 2001 Jul; 86(7):3197-201. PubMed ID: 11443188 [TBL] [Abstract][Full Text] [Related]
13. The combination of a novel 2 bp deletion mutation and p.D63H in CYP11B1 cause congenital adrenal hyperplasia due to steroid 11β-hydroxylase deficiency. Long Y; Han S; Zhang X; Zhang X; Chen T; Gao Y; Tian H Endocr J; 2016; 63(3):301-10. PubMed ID: 26806323 [TBL] [Abstract][Full Text] [Related]
14. Analyzing the functional and structural consequences of two point mutations (P94L and A368D) in the CYP11B1 gene causing congenital adrenal hyperplasia resulting from 11-hydroxylase deficiency. Krone N; Grischuk Y; Müller M; Volk RE; Grötzinger J; Holterhus PM; Sippell WG; Riepe FG J Clin Endocrinol Metab; 2006 Jul; 91(7):2682-8. PubMed ID: 16670167 [TBL] [Abstract][Full Text] [Related]
15. Congenital adrenal hyperplasia due to 11-hydroxylase deficiency-Compound heterozygous mutations of a prevalent and two novel CYP11B1 mutations. Gu C; Tan H; Yang J; Lu Y; Ma Y Gene; 2017 Aug; 626():89-94. PubMed ID: 28514642 [TBL] [Abstract][Full Text] [Related]
16. Neonatal salt-wasting and 11 beta-hydroxylase deficiency in a child carrying a homozygous deletion hybrid CYP11B2 (aldosterone synthase)-CYP11B1 (11 beta-hydroxylase). Ezquieta B; Luzuriaga C Clin Genet; 2004 Sep; 66(3):229-35. PubMed ID: 15324322 [TBL] [Abstract][Full Text] [Related]
17. Congenital adrenal hyperplasia due to 11-hydroxylase deficiency--insights from two novel CYP11B1 mutations (p.M92X, p.R453Q). Krone N; Grötzinger J; Holterhus PM; Sippell WG; Schwarz HP; Riepe FG Horm Res; 2009; 72(5):281-6. PubMed ID: 19844114 [TBL] [Abstract][Full Text] [Related]
18. Molecular biology of 11β-hydroxylase and 11β-hydroxysteroid dehydrogenase enzymes. White PC; Pascoe L; Curnow KM; Tannin G; Rösler A J Steroid Biochem Mol Biol; 1992 Dec; 43(8):827-35. PubMed ID: 22217826 [TBL] [Abstract][Full Text] [Related]