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Journal Abstract Search

154 related items for PubMed ID: 36929050

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  • 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
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  • 4. Case Report: A combination of chimeric CYP11B2/CYP11B1 and a novel p.Val68Gly CYP11B1 variant causing 11β-Hydroxylase deficiency in a Chinese patient.
    Li J, Zhang F, Xu M, Qiu H, Zhou C, Li L, Qin L.
    Front Endocrinol (Lausanne); 2023 May; 14():1216767. PubMed ID: 38027139
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  • 5. 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. PubMed ID: 28514642
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  • 6. 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 Aug 30; 63(3):301-10. PubMed ID: 26806323
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  • 7. 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 30; 211():105882. PubMed ID: 33785438
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  • 8. 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 30; 84(3):1193-1205. PubMed ID: 38411873
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  • 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 30; 100():11-6. PubMed ID: 25911436
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  • 10. 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 Aug 30; 63(6):284-93. PubMed ID: 16024935
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  • 11. 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 30; 84(1):253-264. PubMed ID: 38285409
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  • 12. Targeted long-read sequencing identifies missing pathogenic variant in unsolved 11β-hydroxylase deficiency.
    Liu J, Tian H, Jin X, Wang Y, Zhang Z, Li M, Dai L, Zhang X, Jiang L.
    BMC Endocr Disord; 2024 Oct 14; 24(1):215. PubMed ID: 39402525
    [Abstract] [Full Text] [Related]

  • 13. 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. PubMed ID: 20529578
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  • 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 17; 16(1):37. PubMed ID: 27316665
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  • 15. 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 01; 175(3):514-8. PubMed ID: 22210247
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  • 16. Diagnosis, treatment and genetic analysis of 11β -hydroxylase deficiency caused by CYP11B gene mutation.
    Song QQ, Zhang SS, Zhang Z, Sun J, Yang R, Li JT, Chen H.
    Yi Chuan; 2022 Dec 20; 44(12):1175-1182. PubMed ID: 36927563
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  • 17. 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. PubMed ID: 30241518
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  • 19. Novel homozygous p.R454C mutation in the CYP11B1 gene leads to 11β-hydroxylase deficiency in a Chinese patient.
    Wu C, Zhou Q, Wan L, Ni L, Zheng C, Qian Y, Jin J.
    Fertil Steril; 2011 Mar 01; 95(3):1122.e3-6. PubMed ID: 20947076
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  • 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 01; 133():25-9. PubMed ID: 22964742
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