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Journal Abstract Search

381 related items for PubMed ID: 30611409

  • 1. Genetics of congenital adrenal hyperplasia and genotype-phenotype correlation.
    Narasimhan ML, Khattab A.
    Fertil Steril; 2019 Jan; 111(1):24-29. PubMed ID: 30611409
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene.
    Concolino P, Costella A.
    Mol Diagn Ther; 2018 Jun; 22(3):261-280. PubMed ID: 29450859
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. 21-hydroxylase deficiency-induced congenital adrenal hyperplasia in 230 Chinese patients: Genotype-phenotype correlation and identification of nine novel mutations.
    Wang R, Yu Y, Ye J, Han L, Qiu W, Zhang H, Liang L, Gong Z, Wang L, Gu X.
    Steroids; 2016 Apr 10; 108():47-55. PubMed ID: 26804566
    [Abstract] [Full Text] [Related]

  • 6. The spectrum of CYP21A2 mutations in Congenital Adrenal Hyperplasia in an Indian cohort.
    Khajuria R, Walia R, Bhansali A, Prasad R.
    Clin Chim Acta; 2017 Jan 10; 464():189-194. PubMed ID: 27890570
    [Abstract] [Full Text] [Related]

  • 7. Steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia.
    Parsa AA, New MI.
    J Steroid Biochem Mol Biol; 2017 Jan 10; 165(Pt A):2-11. PubMed ID: 27380651
    [Abstract] [Full Text] [Related]

  • 8. Clinical phenotype and mutation spectrum of the CYP21A2 gene in patients with steroid 21-hydroxylase deficiency.
    Choi JH, Jin HY, Lee BH, Ko JM, Lee JJ, Kim GH, Jung CW, Lee J, Yoo HW.
    Exp Clin Endocrinol Diabetes; 2012 Jan 10; 120(1):23-7. PubMed ID: 22020670
    [Abstract] [Full Text] [Related]

  • 9. 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 10; 165(Pt A):51-56. PubMed ID: 27041116
    [Abstract] [Full Text] [Related]

  • 10. Molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia: implications for genetic counseling.
    Speiser PW.
    Am J Pharmacogenomics; 2001 Jan 10; 1(2):101-10. PubMed ID: 12174671
    [Abstract] [Full Text] [Related]

  • 11. 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 10; 26(4):595-603. PubMed ID: 20818501
    [Abstract] [Full Text] [Related]

  • 12. 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 Oct 10; 1(3):116-28. PubMed ID: 21274396
    [Abstract] [Full Text] [Related]

  • 13. 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 10; 38(11):1199-210. PubMed ID: 26233337
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. 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 Feb 12; 47(7):824-5. PubMed ID: 19499972
    [Abstract] [Full Text] [Related]

  • 16. CYP21A2 genetic profile in 14 Egyptian children with suspected congenital adrenal hyperplasia: a diagnostic challenge.
    Elmougy F, Sharaf S, Hafez M, Khattab A, Abou-Yousef H, Elsharkawy M, Baz H, Ekladious S, Sherif B, Musa N, Elshiwy Y, Afif A, Abdullatif M, Thabet G, Rady N, Ibrahim A, Soliman H.
    Ann N Y Acad Sci; 2018 Mar 12; 1415(1):11-20. PubMed ID: 29266270
    [Abstract] [Full Text] [Related]

  • 17. Lack of genotypephenotype correlation in congenital adrenal hyperplasia due to a CYP21A2-like gene.
    Leccese A, Longo V, Dimatteo C, De Girolamo G, Trunzo R, D'Andrea G, Bafunno V, Margaglione M, Santacroce R.
    Clin Chim Acta; 2014 Nov 01; 437():48-51. PubMed ID: 25025300
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. Genotype-phenotype correlation in 153 adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: analysis of the United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE) cohort.
    Krone N, Rose IT, Willis DS, Hodson J, Wild SH, Doherty EJ, Hahner S, Parajes S, Stimson RH, Han TS, Carroll PV, Conway GS, Walker BR, MacDonald F, Ross RJ, Arlt W, United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE).
    J Clin Endocrinol Metab; 2013 Feb 01; 98(2):E346-54. PubMed ID: 23337727
    [Abstract] [Full Text] [Related]

  • 20. Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.
    Wilson RC, Nimkarn S, Dumic M, Obeid J, Azar MR, Najmabadi H, Saffari F, New MI.
    Mol Genet Metab; 2007 Apr 01; 90(4):414-21. PubMed ID: 17275379
    [Abstract] [Full Text] [Related]

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