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Journal Abstract Search

309 related items for PubMed ID: 26206692

  • 21. Characterization of the CYP21A2 Gene Mutations in Children with Classic Congenital Adrenal Hyperplasia.
    Saraf S, Srivastava P, Panigrahi I, Seenappa V, Kumar R, Yadav J, Daniel R, Dayal D.
    Indian J Pediatr; 2024 Feb; 91(2):137-142. PubMed ID: 35094236
    [Abstract] [Full Text] [Related]

  • 22. CYP21A2 Gene Pathogenic Variants: A Multicenter Study on Genotype-Phenotype Correlation from a Portuguese Pediatric Cohort.
    Santos-Silva R, Cardoso R, Lopes L, Fonseca M, Espada F, Sampaio L, Brandão C, Antunes A, Bragança G, Coelho R, Bernardo T, Vieira P, Morais R, Leite AL, Ribeiro L, Carvalho B, Grangeia A, Oliveira R, Oliveira MJ, Rey V, Rosmaninho-Salgado J, Marques B, Garcia AM, Meireles A, Carvalho J, Sequeira A, Mirante A, Borges T, on behalf of the Portuguese Society of Pediatric Endocrinology and Diabetology.
    Horm Res Paediatr; 2019 Feb; 91(1):33-45. PubMed ID: 30889569
    [Abstract] [Full Text] [Related]

  • 23. [Analysis of CYP21A2 gene mutations among patients with classical steroid 21-hydroxylase deficiency].
    Su Y, Chen H, Zhu W, Wang J, Zhou J, Chen Y, Zhao H, Zeng Y, Lin F, Zhang H, Lin Q.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Dec 10; 33(6):786-791. PubMed ID: 27984606
    [Abstract] [Full Text] [Related]

  • 24. Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction.
    de Carvalho DF, Miranda MC, Gomes LG, Madureira G, Marcondes JA, Billerbeck AE, Rodrigues AS, Presti PF, Kuperman H, Damiani D, Mendonca BB, Bachega TA.
    Eur J Endocrinol; 2016 Aug 10; 175(2):107-16. PubMed ID: 27185867
    [Abstract] [Full Text] [Related]

  • 25. Revisiting the association of HLA alleles and haplotypes with CYP21A2 mutations in a large cohort of patients with congenital adrenal hyperplasia.
    Jayakrishnan R, Lao Q, Adams SD, Ward WW, Merke DP.
    Gene; 2019 Mar 01; 687():30-34. PubMed ID: 30419250
    [Abstract] [Full Text] [Related]

  • 26. Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
    Finkielstain GP, Chen W, Mehta SP, Fujimura FK, Hanna RM, Van Ryzin C, McDonnell NB, Merke DP.
    J Clin Endocrinol Metab; 2011 Jan 01; 96(1):E161-72. PubMed ID: 20926536
    [Abstract] [Full Text] [Related]

  • 27. Clinical application of a novel next generation sequencing assay for CYP21A2 gene in 310 cases of 21- hydroxylase congenital adrenal hyperplasia from India.
    Gangodkar P, Khadilkar V, Raghupathy P, Kumar R, Dayal AA, Dayal D, Ayyavoo A, Godbole T, Jahagirdar R, Bhat K, Gupta N, Kamalanathan S, Jagadeesh S, Ranade S, Lohiya N, Oke RL, Ganesan K, Khatod K, Agarwal M, Phadke N, Khadilkar A.
    Endocrine; 2021 Jan 01; 71(1):189-198. PubMed ID: 32948948
    [Abstract] [Full Text] [Related]

  • 28. Molecular genetic study of congenital adrenal hyperplasia in Serbia: novel p.Leu129Pro and p.Ser165Pro CYP21A2 gene mutations.
    Milacic I, Barac M, Milenkovic T, Ugrin M, Klaassen K, Skakic A, Jesic M, Joksic I, Mitrovic K, Todorovic S, Vujovic S, Pavlovic S, Stojiljkovic M.
    J Endocrinol Invest; 2015 Nov 01; 38(11):1199-210. PubMed ID: 26233337
    [Abstract] [Full Text] [Related]

  • 29. Three novel CYP21A2 mutations and their protein modelling in patients with classical 21-hydroxylase deficiency from northeastern Iran.
    Baradaran-Heravi A, Vakili R, Robins T, Carlsson J, Ghaemi N, A'rabi A, Abbaszadegan MR.
    Clin Endocrinol (Oxf); 2007 Sep 01; 67(3):335-41. PubMed ID: 17573904
    [Abstract] [Full Text] [Related]

  • 30. A CYP21A2 gene mutation in patients with congenital adrenal hyperplasia. Molecular genetics report from Saudi Arabia.
    Mohamed S, El-Kholy S, Al-Juryyan N, Al-Nemri AM, Abu-Amero KK.
    Saudi Med J; 2015 Jan 01; 36(1):113-6. PubMed ID: 25630015
    [Abstract] [Full Text] [Related]

  • 31. Molecular genetic analysis in 93 patients and 193 family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia.
    Dumic KK, Grubic Z, Yuen T, Wilson RC, Kusec V, Barisic I, Stingl K, Sansovic I, Skrabic V, Dumic M, New MI.
    J Steroid Biochem Mol Biol; 2017 Jan 01; 165(Pt A):51-56. PubMed ID: 27041116
    [Abstract] [Full Text] [Related]

  • 32. Comprehensive Analysis of Congenital Adrenal Hyperplasia Using Long-Read Sequencing.
    Liu Y, Chen M, Liu J, Mao A, Teng Y, Yan H, Zhu H, Li Z, Liang D, Wu L.
    Clin Chem; 2022 Jul 03; 68(7):927-939. PubMed ID: 35714169
    [Abstract] [Full Text] [Related]

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  • 34. Prenatal diagnosis of steroid 21-hydroxylase-deficient congenital adrenal hyperplasia: Experience from a tertiary care centre in India.
    Dubey S, Tardy V, Chowdhury MR, Gupta N, Jain V, Deka D, Sharma P, Morel Y, Kabra M.
    Indian J Med Res; 2017 Feb 03; 145(2):194-202. PubMed ID: 28639595
    [Abstract] [Full Text] [Related]

  • 35. Salt-wasting congenital adrenal hyperplasia phenotype as a result of the TNXA/TNXB chimera 1 (CAH-X CH-1) and the pathogenic IVS2-13A/C > G in CYP21A2 gene.
    Fanis P, Skordis N, Phylactou LA, Neocleous V.
    Hormones (Athens); 2023 Mar 03; 22(1):71-77. PubMed ID: 36264454
    [Abstract] [Full Text] [Related]

  • 36. Improved Genetic Characterization of Congenital Adrenal Hyperplasia by Long-Read Sequencing Compared with Multiplex Ligation-Dependent Probe Amplification Plus Sanger Sequencing.
    Yuan D, Cai R, Mao A, Tan J, Zhong Q, Zeng D, Tang N, Wei X, Huang J, Zhang Y, Chen D, Yang J, Li Y, Zheng X, Li J, Li D, Yan T.
    J Mol Diagn; 2024 Sep 03; 26(9):770-780. PubMed ID: 38925455
    [Abstract] [Full Text] [Related]

  • 37. The frequency and the effects of 21-hydroxylase gene defects in congenital adrenal hyperplasia patients.
    Kirac D, Guney AI, Akcay T, Guran T, Ulucan K, Turan S, Ergec D, Koc G, Eren F, Kaspar EC, Bereket A.
    Ann Hum Genet; 2014 Nov 03; 78(6):399-409. PubMed ID: 25227725
    [Abstract] [Full Text] [Related]

  • 38. The spectrum of CYP21A2 gene mutations in patients with classic salt wasting form of 2l-hydroxylase deficiency in a Chinese cohort.
    Liu Y, Zheng J, Liu N, Xu X, Zhang X, Zhang Y, Li G, Liu G, Cai C, Shu J.
    Mol Genet Genomic Med; 2020 Nov 03; 8(11):e1501. PubMed ID: 32959514
    [Abstract] [Full Text] [Related]

  • 39. Molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Hong Kong Chinese patients.
    Chan AO, But WM, Ng KL, Wong LM, Lam YY, Tiu SC, Lee KF, Lee CY, Loung PY, Berry IR, Brown R, Charlton R, Cheng CW, Ho YC, Tse WY, Shek CC.
    Steroids; 2011 Nov 03; 76(10-11):1057-62. PubMed ID: 21570420
    [Abstract] [Full Text] [Related]

  • 40. Rare mutations in the CYP21A2 gene detected in congenital adrenal hyperplasia.
    Neocleous V, Ioannou YS, Bartsota M, Costi C, Skordis N, Phylactou LA.
    Clin Biochem; 2009 Sep 03; 42(13-14):1363-7. PubMed ID: 19501079
    [Abstract] [Full Text] [Related]

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