175 related articles for article (PubMed ID: 9435454)
1. Novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11 beta-hydroxylase deficiency.
Merke DP; Tajima T; Chhabra A; Barnes K; Mancilla E; Baron J; Cutler GB
J Clin Endocrinol Metab; 1998 Jan; 83(1):270-3. PubMed ID: 9435454
[TBL] [Abstract][Full Text] [Related]
2. 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]
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; 16(1):37. PubMed ID: 27316665
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. 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. PubMed ID: 16024935
[TBL] [Abstract][Full Text] [Related]
7. Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8.
Curnow KM; Slutsker L; Vitek J; Cole T; Speiser PW; New MI; White PC; Pascoe L
Proc Natl Acad Sci U S A; 1993 May; 90(10):4552-6. PubMed ID: 8506298
[TBL] [Abstract][Full Text] [Related]
8. Identification and functional characterization of compound heterozygous CYP11B1 gene mutations.
Liu H; Liu F; Wei Z; Liu P; Liu Q; Chen L; Hou X
Endocrine; 2024 Apr; 84(1):253-264. PubMed ID: 38285409
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. A nonsense mutation (TGG [Trp116]-->TAG [Stop]) in CYP11B1 causes steroid 11 beta-hydroxylase deficiency.
Naiki Y; Kawamoto T; Mitsuuchi Y; Miyahara K; Toda K; Orii T; Imura H; Shizuta Y
J Clin Endocrinol Metab; 1993 Dec; 77(6):1677-82. PubMed ID: 7903314
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Missense mutation in CYP11B1 (CGA[Arg-384]-->GGA[Gly]) causes steroid 11 beta-hydroxylase deficiency.
Nakagawa Y; Yamada M; Ogawa H; Igarashi Y
Eur J Endocrinol; 1995 Mar; 132(3):286-9. PubMed ID: 7889175
[TBL] [Abstract][Full Text] [Related]
15. Mutations in CYP11B1 gene: phenotype-genotype correlations.
Zhu YS; Cordero JJ; Can S; Cai LQ; You X; Herrera C; DeFillo-Ricart M; Shackleton C; Imperato-McGinley J
Am J Med Genet A; 2003 Oct; 122A(3):193-200. PubMed ID: 12966519
[TBL] [Abstract][Full Text] [Related]
16. Chimeric CYP11B2/CYP11B1 causing 11β-hydroxylase deficiency in Chinese patients with congenital adrenal hyperplasia.
Xu L; Xia W; Wu X; Wang X; Zhao L; Nie M
Steroids; 2015 Sep; 101():51-5. PubMed ID: 26066897
[TBL] [Abstract][Full Text] [Related]
17. Compound heterozygosity of a novel Q73X mutation and a known R141X mutation in CYP11B1 resulting in 11β-hydroxylase deficiency in a Chinese boy with congenital adrenal hyperplasia.
Wei C; Zhang Z; Sang M; Dai H; Yang T; Sun M
J Steroid Biochem Mol Biol; 2021 Jul; 211():105882. PubMed ID: 33785438
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. CYP11B1 mutations causing congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency.
Geley S; Kapelari K; Jöhrer K; Peter M; Glatzl J; Vierhapper H; Schwarz S; Helmberg A; Sippell WG; White PC; Kofler R
J Clin Endocrinol Metab; 1996 Aug; 81(8):2896-901. PubMed ID: 8768848
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
