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Journal Abstract Search

445 related items for PubMed ID: 26291314

  • 1. A rare CYP21A2 mutation in a congenital adrenal hyperplasia kindred displaying genotype-phenotype nonconcordance.
    Khattab A, Yuen T, Al-Malki S, Yau M, Kazmi D, Sun L, Harbison M, Haider S, Zaidi M, New MI.
    Ann N Y Acad Sci; 2016 Jan; 1364(1):5-10. PubMed ID: 26291314
    [Abstract] [Full Text] [Related]

  • 2. 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; 165(Pt A):51-56. PubMed ID: 27041116
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. A novel 9 bp deletion (c.1271_1279delGTGCCCGCG) in exon 10 of CYP21A2 gene causing severe congenital adrenal hyperplasia.
    Anastasovska V, Kocova M, Zdraveska N, Stojiljkovic M, Skakic A, Klaassen K, Pavlovic S.
    Endocrine; 2021 Jul 10; 73(1):196-202. PubMed ID: 33715135
    [Abstract] [Full Text] [Related]

  • 5. A rare CYP 21 mutation (p.E431K) induced deactivation of CYP 21A2 and resulted in congenital adrenal hyperplasia.
    Kawashima Y, Usui T, Fujimoto M, Miyahara N, Nishimura R, Hanaki K, Kanzaki S.
    Endocr J; 2015 Jul 10; 62(1):101-6. PubMed ID: 25319875
    [Abstract] [Full Text] [Related]

  • 6. Congenital adrenal hyperplasia with homozygous and heterozygous mutations: a rare family case report.
    Cheng T, Liu J, Sun W, Song G, Ma H.
    BMC Endocr Disord; 2022 Mar 07; 22(1):57. PubMed ID: 35255871
    [Abstract] [Full Text] [Related]

  • 7. 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 07; 67(3):335-41. PubMed ID: 17573904
    [Abstract] [Full Text] [Related]

  • 8. Assessment of the most common CYP21A2 point mutations in a cohort of congenital adrenal hyperplasia patients from Egypt.
    Essawi M, Mazen I, Fawaz L, Hassan H, ElBagoury N, Peter M, Gaafar K, Amer M, Nabil W, Hohmann G, Soliman H, Sippell W.
    J Pediatr Endocrinol Metab; 2020 Jul 28; 33(7):893-900. PubMed ID: 32614782
    [Abstract] [Full Text] [Related]

  • 9. Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.
    New MI, Abraham M, Gonzalez B, Dumic M, Razzaghy-Azar M, Chitayat D, Sun L, Zaidi M, Wilson RC, Yuen T.
    Proc Natl Acad Sci U S A; 2013 Feb 12; 110(7):2611-6. PubMed ID: 23359698
    [Abstract] [Full Text] [Related]

  • 10. Genotype of congenital adrenal hyperplasia patients with testicular adrenal rest tumor.
    Aycan Z, Keskin M, Lafcı NG, Savaş-Erdeve Ş, Baş F, Poyrazoğlu Ş, Öztürk P, Parlak M, Ercan O, Güran T, Hatipoğlu N, Uçaktürk SA, Çatlı G, Akyürek N, Önder A, Kılınç S, Çetinkaya S.
    Eur J Med Genet; 2022 Dec 12; 65(12):104654. PubMed ID: 36343887
    [Abstract] [Full Text] [Related]

  • 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 12; 47(4):3049-3052. PubMed ID: 32185686
    [Abstract] [Full Text] [Related]

  • 12. Phenotype heterogeneity of congenital adrenal hyperplasia due to genetic mosaicism and concomitant nephrogenic diabetes insipidus in a sibling.
    Kor Y, Zou M, Al-Rijjal RA, Monies D, Meyer BF, Shi Y.
    BMC Med Genet; 2018 Jul 11; 19(1):115. PubMed ID: 29996815
    [Abstract] [Full Text] [Related]

  • 13. CYP21A2 gene mutations in congenital adrenal hyperplasia: genotype-phenotype correlation in Turkish children.
    Baş F, Kayserili H, Darendeliler F, Uyguner O, Günöz H, Yüksel Apak M, Atalar F, Bundak R, Wilson RC, New MI, Wollnik B, Saka N.
    J Clin Res Pediatr Endocrinol; 2009 Jul 11; 1(3):116-28. PubMed ID: 21274396
    [Abstract] [Full Text] [Related]

  • 14. Mutational characterization of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Malaysia.
    Balraj P, Lim PG, Sidek H, Wu LL, Khoo AS.
    J Endocrinol Invest; 2013 Jun 11; 36(6):366-74. PubMed ID: 23027774
    [Abstract] [Full Text] [Related]

  • 15. The natural history and genotype-phenotype nonconcordance of HLA identical siblings with the same mutations of the 21-hydroxylase gene.
    Chemaitilly W, Betensky BP, Marshall I, Wei JQ, Wilson RC, New MI.
    J Pediatr Endocrinol Metab; 2005 Feb 11; 18(2):143-53. PubMed ID: 15751603
    [Abstract] [Full Text] [Related]

  • 16. Genotype-phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21-hydroxylase deficiency.
    Xu C, Jia W, Cheng X, Ying H, Chen J, Xu J, Guan Q, Zhou X, Zheng D, Li G, Zhao J.
    Mol Genet Genomic Med; 2019 Jun 11; 7(6):e671. PubMed ID: 30968594
    [Abstract] [Full Text] [Related]

  • 17. Identification of a novel compound heterozygous mutation of the CYP21A2 gene causing 21‑hydroxylase deficiency in a Chinese pedigree.
    Liu J, Zhang X, Zhang H, Fang L, Xu J, Guan Q, Xu C.
    Mol Med Rep; 2018 Mar 11; 17(3):4265-4272. PubMed ID: 29328376
    [Abstract] [Full Text] [Related]

  • 18. 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 11; 96(1):E161-72. PubMed ID: 20926536
    [Abstract] [Full Text] [Related]

  • 19. 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 11; 42(13-14):1363-7. PubMed ID: 19501079
    [Abstract] [Full Text] [Related]

  • 20. 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 11; 38(11):1199-210. PubMed ID: 26233337
    [Abstract] [Full Text] [Related]

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