These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

182 related items for PubMed ID: 20024693

  • 1. Steroid 11-beta hydroxylase deficiency caused by compound heterozygosity for a novel mutation in intron 7 (IVS 7 DS+4A to G) in one CYP11B1 allele and R448H in exon 8 in the other.
    Dumic K, Wilson R, Thanasawat P, Grubic Z, Kusec V, Stingl K, New MI.
    Eur J Pediatr; 2010 Jul; 169(7):891-4. PubMed ID: 20024693
    [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
    [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 17; 16(1):37. PubMed ID: 27316665
    [Abstract] [Full Text] [Related]

  • 4. 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 Jun 17; 63(6):284-93. PubMed ID: 16024935
    [Abstract] [Full Text] [Related]

  • 5. 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 17; 84(3):1193-1205. PubMed ID: 38411873
    [Abstract] [Full Text] [Related]

  • 6. 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 17; 211():105882. PubMed ID: 33785438
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. Mutations in CYP11B1 and congenital adrenal hyperplasia in Moroccan Jews.
    Paperna T, Gershoni-Baruch R, Badarneh K, Kasinetz L, Hochberg Z.
    J Clin Endocrinol Metab; 2005 Sep 01; 90(9):5463-5. PubMed ID: 16030166
    [Abstract] [Full Text] [Related]

  • 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 01; 100():11-6. PubMed ID: 25911436
    [Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 12. 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
    [Abstract] [Full Text] [Related]

  • 13. 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 21; 233():106375. PubMed ID: 37572761
    [Abstract] [Full Text] [Related]

  • 14. Steroid 11beta- hydroxylase deficiency congenital adrenal hyperplasia.
    Nimkarn S, New MI.
    Trends Endocrinol Metab; 2008 Apr 21; 19(3):96-9. PubMed ID: 18294861
    [Abstract] [Full Text] [Related]

  • 15. Congenital adrenal hyperplasia caused by compound heterozygosity of two novel CYP11B1 gene variants.
    Fylaktou I, Smyrnaki P, Sertedaki A, Dracopoulou M, Kanaka-Gantenbein C.
    Hormones (Athens); 2022 Mar 21; 21(1):155-161. PubMed ID: 34697763
    [Abstract] [Full Text] [Related]

  • 16. 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 Mar 21; 74(3):182-9. PubMed ID: 20523022
    [Abstract] [Full Text] [Related]

  • 17. [Clinical and genetic analysis of 11β-hydroxylase deficiency].
    Sun SY, Zhang MN, Yang J, Zhang HJ, Liu JM, Hong J, Ning G, Li XY.
    Zhonghua Yi Xue Za Zhi; 2011 Nov 15; 91(42):2999-3002. PubMed ID: 22333028
    [Abstract] [Full Text] [Related]

  • 18. 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 15; 22(5):610-6. PubMed ID: 24022297
    [Abstract] [Full Text] [Related]

  • 19. A novel nonsense mutation in the Cyp11B1 gene from a subject with the steroid 11beta-hydroxylase form of congenital adrenal hyperplasia.
    Kuribayashi I, Massa G, van den Tooren-de Groot HK, Oostdijk W, Wit JM, Shizuta Y.
    Endocr Res; 2003 Nov 15; 29(4):377-81. PubMed ID: 14682466
    [Abstract] [Full Text] [Related]

  • 20. 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]

    Page: [Next] [New Search]
    of 10.