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Journal Abstract Search

136 related items for PubMed ID: 25100385

  • 1. Divergent gender identity in three siblings with 46XX karyotype and severely virilizing congenital adrenal hyperplasia caused by a novel CYP11B1 mutation.
    Bin-Abbas B, Al-Humaida D, Al-Sagheir A, Qasem E, Almohanna M, Alzahrani AS.
    Endocr Pract; 2014 Oct; 20(10):e191-7. PubMed ID: 25100385
    [Abstract] [Full Text] [Related]

  • 2. A high rate of novel CYP11B1 mutations in Saudi Arabia.
    Alzahrani AS, Alswailem MM, Murugan AK, Alhomaidah DS, Capper CP, Auchus RJ, Qasem E, Alzahrani OS, Al-Sagheir A, Bin-Abbas B.
    J Steroid Biochem Mol Biol; 2017 Nov; 174():217-224. PubMed ID: 28962970
    [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; 155(Pt A):126-34. PubMed ID: 26476331
    [Abstract] [Full Text] [Related]

  • 4. A homozygous L299P mutation in the CYP11B1 gene leads to complete virilization in 46,XX individuals with 11-beta-hydroxylase deficiency.
    Riedl S, Nguyen HH, Clausmeyer S, Schulze E, Waldhauser F, Bernhardt R.
    Horm Res; 2008 Jan; 70(3):145-9. PubMed ID: 18663314
    [Abstract] [Full Text] [Related]

  • 5. 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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  • 7. 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 17; 21(1):155-161. PubMed ID: 34697763
    [Abstract] [Full Text] [Related]

  • 8. Donor splice mutation in the 11beta-hydroxylase (CypllB1) gene resulting in sex reversal: a case report and review of the literature.
    Bhangoo A, Wilson R, New MI, Ten S.
    J Pediatr Endocrinol Metab; 2006 Oct 17; 19(10):1267-82. PubMed ID: 17172090
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  • 10. 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]

  • 11. 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 01; 62(2):326-332. PubMed ID: 30242600
    [Abstract] [Full Text] [Related]

  • 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. Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 gene.
    Baş F, Toksoy G, Ergun-Longmire B, Uyguner ZO, Abalı ZY, Poyrazoğlu Ş, Karaman V, Avcı Ş, Altunoğlu U, Bundak R, Karaman B, Başaran S, Darendeliler F.
    J Steroid Biochem Mol Biol; 2018 Jul 14; 181():88-97. PubMed ID: 29626607
    [Abstract] [Full Text] [Related]

  • 14. Frame shift by insertion of 2 basepairs in codon 394 of CYP11B1 causes congenital adrenal hyperplasia due to steroid 11 beta-hydroxylase deficiency.
    Helmberg A, Ausserer B, Kofler R.
    J Clin Endocrinol Metab; 1992 Nov 14; 75(5):1278-81. PubMed ID: 1430088
    [Abstract] [Full Text] [Related]

  • 15. Congenital adrenal hyperplasia: update on prenatal diagnosis and treatment.
    Carlson AD, Obeid JS, Kanellopoulou N, Wilson RC, New MI.
    J Steroid Biochem Mol Biol; 1999 Nov 14; 69(1-6):19-29. PubMed ID: 10418977
    [Abstract] [Full Text] [Related]

  • 16. Gender Identity and Sexual Function in 46,XX Patients with Congenital Adrenal Hyperplasia Raised as Males.
    Apóstolos RAC, Canguçu-Campinho AK, Lago R, Costa ACS, Oliveira LMB, Toralles MB, Barroso U.
    Arch Sex Behav; 2018 Nov 14; 47(8):2491-2496. PubMed ID: 30291599
    [Abstract] [Full Text] [Related]

  • 17. 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 14; 165(Pt A):57-63. PubMed ID: 26956189
    [Abstract] [Full Text] [Related]

  • 18. [Causes of ambiguous external genitalia in neonates].
    Zdravković D, Milenković T, Sedlecki K, Guć-Sćekić M, Rajić V, Banićević M.
    Srp Arh Celok Lek; 2001 Jan 14; 129(3-4):57-60. PubMed ID: 11534268
    [Abstract] [Full Text] [Related]

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

  • 20. Bilateral laparoscopic adrenalectomy for congenital adrenal hyperplasia with severe hypertension, resulting from two novel mutations in splice donor sites of CYP11B1.
    Chabre O, Portrat-Doyen S, Chaffanjon P, Vivier J, Liakos P, Labat-Moleur F, Chambaz E, Morel Y, Defaye G.
    J Clin Endocrinol Metab; 2000 Nov 14; 85(11):4060-8. PubMed ID: 11095433
    [Abstract] [Full Text] [Related]

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