165 related articles for article (PubMed ID: 24536089)
1. 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]
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. 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]
4. 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]
5. 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]
6. Congenital adrenal hyperplasia due to 11-hydroxylase deficiency: functional characterization of two novel point mutations and a three-base pair deletion in the CYP11B1 gene.
Krone N; Riepe FG; Götze D; Korsch E; Rister M; Commentz J; Partsch CJ; Grötzinger J; Peter M; Sippell WG
J Clin Endocrinol Metab; 2005 Jun; 90(6):3724-30. PubMed ID: 15755848
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation.
Shammas C; Byrou S; Phelan MM; Toumba M; Stylianou C; Skordis N; Neocleous V; Phylactou LA
Hormones (Athens); 2016 Apr; 15(2):235-242. PubMed ID: 27376426
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
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. PubMed ID: 26053152
[TBL] [Abstract][Full Text] [Related]
13. Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 gene.
Baş F; Toksoy G; Ergun-Longmire B; Uyguner ZO; Abalı ZY; Poyrazoğlu Ş; Karaman V; Avcı Ş; Altunoğlu U; Bundak R; Karaman B; Başaran S; Darendeliler F
J Steroid Biochem Mol Biol; 2018 Jul; 181():88-97. PubMed ID: 29626607
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia.
Grigorescu Sido A; Weber MM; Grigorescu Sido P; Clausmeyer S; Heinrich U; Schulze E
J Clin Endocrinol Metab; 2005 Oct; 90(10):5769-73. PubMed ID: 16046588
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. Two novel mutations in CYP11B1 and modeling the consequent alterations of the translated protein in classic congenital adrenal hyperplasia patients.
Abbaszadegan MR; Hassani S; Vakili R; Saberi MR; Baradaran-Heravi A; A'rabi A; Hashemipour M; Razzaghi-Azar M; Moaven O; Baratian A; Ahadian M; Keify F; Meurice N
Endocrine; 2013 Aug; 44(1):212-9. PubMed ID: 23345044
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 26956189
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
