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Journal Abstract Search

182 related items for PubMed ID: 26066897

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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 Sep; 63(6):284-93. PubMed ID: 16024935
    [Abstract] [Full Text] [Related]

  • 3. Deletion hybrid genes, due to unequal crossing over between CYP11B1 (11beta-hydroxylase) and CYP11B2(aldosterone synthase) cause steroid 11beta-hydroxylase deficiency and congenital adrenal hyperplasia.
    Portrat S, Mulatero P, Curnow KM, Chaussain JL, Morel Y, Pascoe L.
    J Clin Endocrinol Metab; 2001 Jul; 86(7):3197-201. PubMed ID: 11443188
    [Abstract] [Full Text] [Related]

  • 4. Unequal crossing over between CYP11B2 and CYP11B1 causes 11 β -hydroxylase deficiency in a consanguineous family.
    Xiong Y, Zeng Z, Liang T, Yang P, Lu Q, Yang J, Zhang J, Fang W, Luo P, Hu Y, Zhang M, Zhou D.
    J Steroid Biochem Mol Biol; 2023 Oct; 233():106375. PubMed ID: 37572761
    [Abstract] [Full Text] [Related]

  • 5. 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 Oct; 14():1216767. PubMed ID: 38027139
    [Abstract] [Full Text] [Related]

  • 6. Chimeric Genes Causing 11β-Hydroxylase Deficiency: Implications in Clinical and Molecular Diagnosis.
    Concolino P.
    Mol Diagn Ther; 2024 Mar; 28(2):215-224. PubMed ID: 38324138
    [Abstract] [Full Text] [Related]

  • 7. Detection of Small CYP11B1 Deletions and One Founder Chimeric CYP11B2/CYP11B1 Gene in 11β-Hydroxylase Deficiency.
    Xie H, Yin H, Ye X, Liu Y, Liu N, Zhang Y, Chen X, Chen X.
    Front Endocrinol (Lausanne); 2022 Mar; 13():882863. PubMed ID: 35685215
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. Unequal crossing-over between aldosterone synthase and 11beta-hydroxylase genes causes congenital adrenal hyperplasia.
    Hampf M, Dao NT, Hoan NT, Bernhardt R.
    J Clin Endocrinol Metab; 2001 Sep; 86(9):4445-52. PubMed ID: 11549691
    [Abstract] [Full Text] [Related]

  • 10. [Genetic analysis of a case with 11β hydroxylase deficiency caused by CYP11B2/CYP11B1 chimeric gene].
    Lin Y, Yang H, Yuan S, Li D, Wei H, Ma X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Apr 10; 40(4):462-467. PubMed ID: 36972943
    [Abstract] [Full Text] [Related]

  • 11. Clinical Presentation and Genetic Analysis of Neonatal 11β-Hydroxylase Deficiency Induced by a Chimeric CYP11B2/CYP11B1 Gene.
    Cai W, Yu D, Gao J, Deng Q, Lin H, Chen Y.
    J Clin Res Pediatr Endocrinol; 2024 Sep 05; 16(3):372-378. PubMed ID: 38088752
    [Abstract] [Full Text] [Related]

  • 12. 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 27; 18(1):23. PubMed ID: 29703198
    [Abstract] [Full Text] [Related]

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  • 14. Neonatal salt-wasting and 11 beta-hydroxylase deficiency in a child carrying a homozygous deletion hybrid CYP11B2 (aldosterone synthase)-CYP11B1 (11 beta-hydroxylase).
    Ezquieta B, Luzuriaga C.
    Clin Genet; 2004 Sep 27; 66(3):229-35. PubMed ID: 15324322
    [Abstract] [Full Text] [Related]

  • 15. 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 27; 211():105882. PubMed ID: 33785438
    [Abstract] [Full Text] [Related]

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  • 17. Novel homozygous p.Y395X mutation in the CYP11B1 gene found in a Vietnamese patient with 11β-hydroxylase deficiency.
    Nguyen HH, Nguyen TH, Vu CD, Nguyen KT, Le BV, Nguyen TL, Nong VH.
    Gene; 2012 Nov 10; 509(2):295-7. PubMed ID: 22921894
    [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 01; 175(3):514-8. PubMed ID: 22210247
    [Abstract] [Full Text] [Related]

  • 19. GRAde: a long-read sequencing approach to efficiently identifying the CYP11B1/CYP11B2 chimeric form in patients with glucocorticoid-remediable aldosteronism.
    Wu YC, Chen CI, Chen PY, Kuo CH, Hung YH, Peng KY, Wu VC, Tsai-Wu JJ, Hsu CL, TAIPAI group.
    BMC Bioinformatics; 2022 Jan 10; 22(Suppl 10):613. PubMed ID: 35012455
    [Abstract] [Full Text] [Related]

  • 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 10; 133():25-9. PubMed ID: 22964742
    [Abstract] [Full Text] [Related]

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