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

208 related items for PubMed ID: 38285409

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

  • 2. 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]

  • 3. 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 17; 155(Pt A):126-34. PubMed ID: 26476331
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. 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 21; 211():105882. PubMed ID: 33785438
    [Abstract] [Full Text] [Related]

  • 6. 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 21; 84(3):1193-1205. PubMed ID: 38411873
    [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. 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]

  • 9. [Analysis of a family with 11β-hydroxylase deficiency due to a mutation in the CYP11B1 gene].
    Yu YY, Tao YK, Hou JZ, Zhou GX, Du JJ, Zhang D.
    Zhonghua Yi Xue Za Zhi; 2024 Jun 11; 104(22):2074-2078. PubMed ID: 38858218
    [Abstract] [Full Text] [Related]

  • 10. 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 11; 100():11-6. PubMed ID: 25911436
    [Abstract] [Full Text] [Related]

  • 11. 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 11; 37(4):e22869. PubMed ID: 36929050
    [Abstract] [Full Text] [Related]

  • 12. 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 Apr 11; 14():1216767. PubMed ID: 38027139
    [Abstract] [Full Text] [Related]

  • 13. 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 Apr 11; 63(6):284-93. PubMed ID: 16024935
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. 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 Oct 14; 78(4):212-7. PubMed ID: 23146819
    [Abstract] [Full Text] [Related]

  • 16.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 17.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 18.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 19.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 20. 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]

    Page: [Next] [New Search]
    of 11.