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Journal Abstract Search

202 related items for PubMed ID: 20529578

  • 21. 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]

  • 22. 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]

  • 23. 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 14; 211():105882. PubMed ID: 33785438
    [Abstract] [Full Text] [Related]

  • 24. 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 Jul 14; 63(3):301-10. PubMed ID: 26806323
    [Abstract] [Full Text] [Related]

  • 25. 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]

  • 26. Update on the prenatal diagnosis and treatment of congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.
    Motaghedi R, Betensky BP, Slowinska B, Cerame B, Cabrer M, New MI, Wilson RC.
    J Pediatr Endocrinol Metab; 2005 Feb 05; 18(2):133-42. PubMed ID: 15751602
    [Abstract] [Full Text] [Related]

  • 27. 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 05; 29(4):377-81. PubMed ID: 14682466
    [Abstract] [Full Text] [Related]

  • 28. 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 05; 22(5):610-6. PubMed ID: 24022297
    [Abstract] [Full Text] [Related]

  • 29. A case of 11beta-hydroxylase deficiency detected in a newborn screening program by second-tier LC-MS/MS.
    Peter M, Janzen N, Sander S, Korsch E, Riepe FG, Sander J.
    Horm Res; 2008 May 05; 69(4):253-6. PubMed ID: 18204274
    [Abstract] [Full Text] [Related]

  • 30. 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 05; 84(1):253-264. PubMed ID: 38285409
    [Abstract] [Full Text] [Related]

  • 31. 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 Apr 05; 13():882863. PubMed ID: 35685215
    [Abstract] [Full Text] [Related]

  • 32. Congenital adrenal hyperplasia due to 11-hydroxylase deficiency--insights from two novel CYP11B1 mutations (p.M92X, p.R453Q).
    Krone N, Grötzinger J, Holterhus PM, Sippell WG, Schwarz HP, Riepe FG.
    Horm Res; 2009 Apr 05; 72(5):281-6. PubMed ID: 19844114
    [Abstract] [Full Text] [Related]

  • 33. Congenital adrenal hyperplasia (21-hydroxylase deficiency) without demonstrable genetic mutations.
    Nimkarn S, Cerame BI, Wei JQ, Dumic M, Zunec R, Brkljacic L, Skrabić V, New MI, Wilson RC.
    J Clin Endocrinol Metab; 1999 Jan 05; 84(1):378-81. PubMed ID: 9920112
    [Abstract] [Full Text] [Related]

  • 34. Two novel mutations in splice donor sites of CYP11B1 in congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.
    Chabre O, Portrat-Doyen S, Vivier J, Morel Y, Defaye G.
    Endocr Res; 2000 Nov 05; 26(4):797-801. PubMed ID: 11196457
    [Abstract] [Full Text] [Related]

  • 35. 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 05; 86(7):3197-201. PubMed ID: 11443188
    [Abstract] [Full Text] [Related]

  • 36. 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 05; 90(6):3724-30. PubMed ID: 15755848
    [Abstract] [Full Text] [Related]

  • 37. 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
    [Abstract] [Full Text] [Related]

  • 38. 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 20; 165(Pt A):57-63. PubMed ID: 26956189
    [Abstract] [Full Text] [Related]

  • 39. Insights on the phenotypic heterogenity of 11β-hydroxylase deficiency: clinical and genetic studies in two novel families.
    Valadares LP, Pfeilsticker ACV, de Brito Sousa SM, Cardoso SC, de Moraes OL, Gonçalves de Castro LC, de Oliveira RS, Lofrano-Porto A.
    Endocrine; 2018 Nov 20; 62(2):326-332. PubMed ID: 30242600
    [Abstract] [Full Text] [Related]

  • 40. 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 20; 77(6):1677-82. PubMed ID: 7903314
    [Abstract] [Full Text] [Related]

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