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Journal Abstract Search

429 related items for PubMed ID: 30419250

  • 1. 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]

  • 2. A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form.
    Concolino P, Mello E, Minucci A, Giardina E, Zuppi C, Toscano V, Capoluongo E.
    BMC Med Genet; 2009 Jul 22; 10():72. PubMed ID: 19624807
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  • 6. Association of HLA alleles and haplotypes with CYP21A2 gene p. V282L mutation in the Croatian population.
    Grubic Z, Maskalan M, Stingl Jankovic K, Zvecic S, Dumic Kubat K, Krnic N, Zunec R, Ille J, Kusec V, Dumic M.
    HLA; 2016 Nov 22; 88(5):239-244. PubMed ID: 27709802
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  • 7. A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
    Coeli-Lacchini FB, Turatti W, Elias PC, Elias LL, Martinelli CE, Moreira AC, Antonini SR, de Castro M.
    Gene; 2013 Sep 10; 526(2):239-45. PubMed ID: 23570880
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  • 8. The Prevalence of the Chimeric TNXA/TNXB Gene and Clinical Symptoms of Ehlers-Danlos Syndrome with 21-Hydroxylase Deficiency.
    Gao Y, Lu L, Yu B, Mao J, Wang X, Nie M, Wu X.
    J Clin Endocrinol Metab; 2020 Jul 01; 105(7):. PubMed ID: 32291442
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  • 9. 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]

  • 10. CYP21A2 p.E238 deletion as result of multiple microconversion events: a genetic study on an Italian congenital adrenal hyperplasia (CAH) family.
    Concolino P, Mello E, Zuppi C, Toscano V, Capoluongo E.
    Diagn Mol Pathol; 2013 Mar 01; 22(1):48-51. PubMed ID: 23370425
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  • 11. A rare CYP21A2 haplotype clarifies the phenotype-genotype discrepancy in an Italian patient with Non Classical Congenital Adrenal Hyperplasia (NC-CAH).
    Concolino P.
    Mol Biol Rep; 2020 Apr 01; 47(4):3049-3052. PubMed ID: 32185686
    [Abstract] [Full Text] [Related]

  • 12. Study of Human Leukocyte Antigen (HLA) in 13 cases of familial frontal fibrosing alopecia: CYP21A2 gene p.V281L mutation from congenital adrenal hyperplasia linked to HLA class I haplotype HLA-A*33:01; B*14:02; C*08:02 as a genetic marker.
    Porriño-Bustamante ML, López-Nevot MÁ, Aneiros-Fernández J, Casado-Ruiz J, García-Linares S, Pedrinacci-Rodríguez S, García-Lora E, Martín-Casares MA, Fernández-Pugnaire MA, Arias-Santiago S.
    Australas J Dermatol; 2019 Aug 01; 60(3):e195-e200. PubMed ID: 30656636
    [Abstract] [Full Text] [Related]

  • 13. Junction site analysis of chimeric CYP21A1P/CYP21A2 genes in 21-hydroxylase deficiency.
    Chen W, Xu Z, Sullivan A, Finkielstain GP, Van Ryzin C, Merke DP, McDonnell NB.
    Clin Chem; 2012 Feb 01; 58(2):421-30. PubMed ID: 22156666
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  • 14. 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
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  • 15. Molecular analysis of the CYP21A2 gene in Chinese patients with steroid 21-hydroxylase deficiency.
    Ma D, Chen Y, Sun Y, Yang B, Cheng J, Huang M, Zhang J, Zhang J, Hu P, Lin Y, Jiang T, Xu Z.
    Clin Biochem; 2014 Apr 01; 47(6):455-63. PubMed ID: 24503005
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  • 16. Identification of CYP21A2 mutant alleles in Czech patients with 21-hydroxylase deficiency.
    Vrzalová Z, Hrubá Z, St'ahlová Hrabincová E, Pouchlá S, Votava F, Kolousková S, Fajkusová L.
    Int J Mol Med; 2010 Oct 01; 26(4):595-603. PubMed ID: 20818501
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  • 17. 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]

  • 18. A new CYP21A2 nonsense mutation causing severe 21-hydroxylase deficiency.
    Concolino P, Minucci A, Mello E, Zuppi C, Capoluongo E.
    Clin Chem Lab Med; 2009 Jan 01; 47(7):824-5. PubMed ID: 19499972
    [Abstract] [Full Text] [Related]

  • 19. Ehlers-Danlos Syndrome: Molecular and Clinical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia.
    Marino R, Garrido NP, Ramirez P, Notaristéfano G, Moresco A, Touzon MS, Vaiani E, Finkielstain G, Obregón MG, Balbi V, Soria I, Belgorosky A.
    J Clin Endocrinol Metab; 2021 Jun 16; 106(7):e2789-e2802. PubMed ID: 33482002
    [Abstract] [Full Text] [Related]

  • 20. Investigation of CYP21A2 mutations in Turkish patients with 21-hydroxylase deficiency and a novel founder mutation.
    Toraman B, Ökten A, Kalay E, Karagüzel G, Dinçer T, Açıkgöz EG, Karagüzel A.
    Gene; 2013 Jan 15; 513(1):202-8. PubMed ID: 23142378
    [Abstract] [Full Text] [Related]

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