173 related articles for article (PubMed ID: 26053152)
1. 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. PubMed ID: 26053152
[TBL] [Abstract][Full Text] [Related]
2. Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.
Parajes S; Loidi L; Reisch N; Dhir V; Rose IT; Hampel R; Quinkler M; Conway GS; Castro-Feijóo L; Araujo-Vilar D; Pombo M; Dominguez F; Williams EL; Cole TR; Kirk JM; Kaminsky E; Rumsby G; Arlt W; Krone N
J Clin Endocrinol Metab; 2010 Feb; 95(2):779-88. PubMed ID: 20089618
[TBL] [Abstract][Full Text] [Related]
3. A diagnosis not to be missed: nonclassic steroid 11β-hydroxylase deficiency presenting with premature adrenarche and hirsutism.
Reisch N; Högler W; Parajes S; Rose IT; Dhir V; Götzinger J; Arlt W; Krone N
J Clin Endocrinol Metab; 2013 Oct; 98(10):E1620-5. PubMed ID: 23940125
[TBL] [Abstract][Full Text] [Related]
4. A novel chimeric CYP11B2/CYP11B1 combined with a new p.L340P CYP11B1 mutation in a patient with 11OHD: case report.
Duan L; Shen R; Song L; Liao Y; Zheng H
BMC Endocr Disord; 2018 Apr; 18(1):23. PubMed ID: 29703198
[TBL] [Abstract][Full Text] [Related]
5. Characterisation of three novel CYP11B1 mutations in classic and non-classic 11β-hydroxylase deficiency.
Polat S; Kulle A; Karaca Z; Akkurt I; Kurtoglu S; Kelestimur F; Grötzinger J; Holterhus PM; Riepe FG
Eur J Endocrinol; 2014 May; 170(5):697-706. PubMed ID: 24536089
[TBL] [Abstract][Full Text] [Related]
6. Non-classical 11β-hydroxylase deficiency caused by compound heterozygous mutations: a case study and literature review.
Wang D; Wang J; Tong T; Yang Q
J Ovarian Res; 2018 Sep; 11(1):82. PubMed ID: 30223866
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 22964742
[TBL] [Abstract][Full Text] [Related]
8. Identification and functional characterization of a large deletion of the CYP11B1 gene causing an 11β-Hydroxylase deficiency in a Chinese pedigree.
Xu C; Qiao J; Liu W; Jiang X; Yan F; Wu J; Han B; Zhang H; Guan Q; Gao L; Zhao J
Horm Res Paediatr; 2012; 78(4):212-7. PubMed ID: 23146819
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Improving the diagnosis of 11β-hydroxylase deficiency using home-made MLPA probes: identification of a novel chimeric CYP11B2/CYP11B1 gene in a Sicilian patient.
Menabò S; Boccassini S; Gambineri A; Balsamo A; Pasquali R; Prontera O; Mazzanti L; Baldazzi L
J Endocrinol Invest; 2016 Mar; 39(3):291-5. PubMed ID: 26280318
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Three novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11Beta-hydroxylase deficiency in a moroccan population.
Chabraoui L; Abid F; Menassa R; Gaouzi A; El Hessni A; Morel Y
Horm Res Paediatr; 2010; 74(3):182-9. PubMed ID: 20523022
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 26956189
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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. PubMed ID: 24022297
[TBL] [Abstract][Full Text] [Related]
16. CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11 beta-hydroxylase deficiency.
Joehrer K; Geley S; Strasser-Wozak EM; Azziz R; Wollmann HA; Schmitt K; Kofler R; White PC
Hum Mol Genet; 1997 Oct; 6(11):1829-34. PubMed ID: 9302260
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 26476331
[TBL] [Abstract][Full Text] [Related]
18. Molecular analysis of 12 Chinese patients with 11β-hydroxylase deficiency and in vitro functional study of 20 CYP11B1 missense variants.
Sun B; Lu L; Xie S; Zhang W; Zhang X; Tong A; Chen S; Wu X; Mao J; Wang X; Qiu L; Nie M
FASEB J; 2023 Apr; 37(4):e22869. PubMed ID: 36929050
[TBL] [Abstract][Full Text] [Related]
19. 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. PubMed ID: 25911436
[TBL] [Abstract][Full Text] [Related]
20. Non-classical 11β-hydroxylase deficiency caused by a novel heterozygous mutation: a case report and review of the literature.
Tang S; Xu W; Xuan M; Liu Q; Li Y; Kong D; Yang H; Liu Y; Xue Y
Endocrine; 2024 Jun; 84(3):1193-1205. PubMed ID: 38411873
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
