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Items: 1 to 20 of 120

1.

A Greek girl with 11β-hydroxylase deficiency due to compound heterozygosity for two novel mutations in CYP11B1 gene.

Marakaki C, Papadopoulou A, Karapanou O, Papadimitriou DT, Kleanthous K, Papadimitriou A.

Endocrinol Diabetes Metab Case Rep. 2015;2015:150074. doi: 10.1530/EDM-15-0074. Epub 2015 Aug 7.

2.

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 1;175(3):514-8. doi: 10.1016/j.ygcen.2011.12.017. Epub 2011 Dec 22.

PMID:
22210247
3.

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 17;16(1):37. doi: 10.1186/s12902-016-0118-6.

4.

Phenotypic, metabolic, and molecular genetic characterization of six patients with congenital adrenal hyperplasia caused by novel mutations in the CYP11B1 gene.

Nguyen HH, Eiden-Plach A, Hannemann F, Malunowicz EM, Hartmann MF, Wudy SA, Bernhardt R.

J Steroid Biochem Mol Biol. 2016 Jan;155(Pt A):126-34. doi: 10.1016/j.jsbmb.2015.10.011. Epub 2015 Oct 22.

PMID:
26476331
5.

Disorders of the aldosterone synthase and steroid 11beta-hydroxylase deficiencies.

Peter M, Dubuis JM, Sippell WG.

Horm Res. 1999;51(5):211-22. Review.

PMID:
10559665
6.

A Chinese patient with 11β-hydroxylase deficiency due to novel compound heterozygous mutation in CYP11B1 gene: a case report.

Yuan X, Lu L, Chen S, Jiang J, Wang X, Liu Z, Zhu H, Pan H, Lu Z.

BMC Endocr Disord. 2018 Sep 21;18(1):68. doi: 10.1186/s12902-018-0295-6.

7.

Congenital adrenal hyperplasia: 11beta-hydroxylase deficiency.

Peter M.

Semin Reprod Med. 2002 Aug;20(3):249-54. Review.

PMID:
12428205
8.

Steroid 11-beta hydroxylase deficiency caused by compound heterozygosity for a novel mutation in intron 7 (IVS 7 DS+4A to G) in one CYP11B1 allele and R448H in exon 8 in the other.

Dumic K, Wilson R, Thanasawat P, Grubic Z, Kusec V, Stingl K, New MI.

Eur J Pediatr. 2010 Jul;169(7):891-4. doi: 10.1007/s00431-009-1110-1. Epub 2009 Dec 22.

PMID:
20024693
9.

Identification of seven novel CYP11B1 gene mutations in Chinese patients with 11β-hydroxylase deficiency.

Wang X, Nie M, Lu L, Tong A, Chen S, Lu Z.

Steroids. 2015 Aug;100:11-6. doi: 10.1016/j.steroids.2015.04.003. Epub 2015 Apr 21.

PMID:
25911436
10.

A novel missense mutation, GGC(Arg454) --> TGC(Cys), of CYP11B1 gene identified in a Chinese family with steroid 11beta-hydroxylase deficiency.

Ye ZQ, Zhang MN, Zhang HJ, Jiang JJ, Li XY, Zhang KQ.

Chin Med J (Engl). 2010 May 20;123(10):1264-8.

PMID:
20529578
11.

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations.

Menabò S, Polat S, Baldazzi L, Kulle AE, Holterhus PM, Grötzinger J, Fanelli F, Balsamo A, Riepe FG.

Eur J Hum Genet. 2014 May;22(5):610-6. doi: 10.1038/ejhg.2013.197. Epub 2013 Sep 11.

12.

Characterization of the molecular genetic pathology in patients with 11β-hydroxylase deficiency.

Mooij CF, Parajes S, Rose IT, Taylor AE, Bayraktaroglu T, Wass JA, Connell JM, Ray DW, Arlt W, Krone N.

Clin Endocrinol (Oxf). 2015 Nov;83(5):629-35. doi: 10.1111/cen.12834. Epub 2015 Jul 14.

PMID:
26053152
13.

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 30;626:89-94. doi: 10.1016/j.gene.2017.05.029. Epub 2017 May 14.

PMID:
28514642
14.

[Congenital adrenal hyperplasia].

Stanić M, Nesović M.

Med Pregl. 1999 Nov-Dec;52(11-12):447-54. Review. Croatian.

PMID:
10748766
15.

Steroid 11-beta-hydroxylase deficiency caused by compound heterozygosity for a novel mutation, p.G314R, in one CYP11B1 allele, and a chimeric CYP11B2/CYP11B1 in the other allele.

Kuribayashi I, Nomoto S, Massa G, Oostdijk W, Wit JM, Wolffenbuttel BH, Shizuta Y, Honke K.

Horm Res. 2005;63(6):284-93. Epub 2005 Jul 15.

PMID:
16024935
16.

Clinical perspectives in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.

Bulsari K, Falhammar H.

Endocrine. 2017 Jan;55(1):19-36. doi: 10.1007/s12020-016-1189-x. Epub 2016 Dec 7. Review.

PMID:
27928728
17.
18.

A Novel Mutation in the CYP11B1 Gene Causes Steroid 11β-Hydroxylase Deficient Congenital Adrenal Hyperplasia with Reversible Cardiomyopathy.

Alqahtani MA, Shati AA, Zou M, Alsuheel AM, Alhayani AA, Al-Qahtani SM, Gilban HM, Meyer BF, Shi Y.

Int J Endocrinol. 2015;2015:595164. doi: 10.1155/2015/595164. Epub 2015 Jul 22.

19.

Novel and prevalent CYP11B1 gene mutations in Turkish patients with 11-β hydroxylase deficiency.

Kandemir N, Yilmaz DY, Gonc EN, Ozon A, Alikasifoglu A, Dursun A, Ozgul RK.

J Steroid Biochem Mol Biol. 2017 Jan;165(Pt A):57-63. doi: 10.1016/j.jsbmb.2016.03.006. Epub 2016 Mar 5.

PMID:
26956189
20.

A prevalent and three novel mutations in CYP11B1 gene identified in Chinese patients with 11-beta hydroxylase deficiency.

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

J Steroid Biochem Mol Biol. 2013 Jan;133:25-9. doi: 10.1016/j.jsbmb.2012.08.011. Epub 2012 Sep 3.

PMID:
22964742

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