These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

238 related items for PubMed ID: 19170707

  • 21. Functional studies of two novel and two rare mutations in the 21-hydroxylase gene.
    Barbaro M, Baldazzi L, Balsamo A, Lajic S, Robins T, Barp L, Pirazzoli P, Cacciari E, Cicognani A, Wedell A.
    J Mol Med (Berl); 2006 Jun; 84(6):521-8. PubMed ID: 16541276
    [Abstract] [Full Text] [Related]

  • 22. Chimeric CYP21A1P/CYP21A2 genes identified in Czech patients with congenital adrenal hyperplasia.
    Vrzalová Z, Hrubá Z, Hrabincová ES, Vrábelová S, Votava F, Koloušková S, Fajkusová L.
    Eur J Med Genet; 2011 Jun; 54(2):112-7. PubMed ID: 20970527
    [Abstract] [Full Text] [Related]

  • 23. Steroid 21-hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype-phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia.
    Marino R, Ramirez P, Galeano J, Perez Garrido N, Rocco C, Ciaccio M, Warman DM, Guercio G, Chaler E, Maceiras M, Bergadá I, Gryngarten M, Balbi V, Pardes E, Rivarola MA, Belgorosky A.
    Clin Endocrinol (Oxf); 2011 Oct; 75(4):427-35. PubMed ID: 21609351
    [Abstract] [Full Text] [Related]

  • 24. Functional analysis of four CYP21 mutations from spanish patients with congenital adrenal hyperplasia.
    Nunez BS, Lobato MN, White PC, Meseguer A.
    Biochem Biophys Res Commun; 1999 Sep 07; 262(3):635-7. PubMed ID: 10471376
    [Abstract] [Full Text] [Related]

  • 25. 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 07; 120(1):23-7. PubMed ID: 22020670
    [Abstract] [Full Text] [Related]

  • 26. Functional characterization and molecular modeling of the mutations in CYP21A2 gene from patients with Congenital Adrenal Hyperplasia.
    Khajuria R, Walia R, Bhansali A, Prasad R.
    Biochimie; 2018 Jun 07; 149():115-121. PubMed ID: 29684512
    [Abstract] [Full Text] [Related]

  • 27. Steroid 21-hydroxylase gene mutational spectrum in 50 Tunisian patients: characterization of three novel polymorphisms.
    Ben Charfeddine I, Riepe FG, Clauser E, Ayedi A, Makni S, Sfar MT, Sboui H, Kahloul N, Ben Hamouda H, Chouchane S, Trimech S, Zouari N, M'Rabet S, Amri F, Saad A, Holterhus PM, Gribaa M.
    Gene; 2012 Oct 01; 507(1):20-6. PubMed ID: 22841790
    [Abstract] [Full Text] [Related]

  • 28. 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]

  • 29. 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 01; 1364(1):5-10. PubMed ID: 26291314
    [Abstract] [Full Text] [Related]

  • 30. Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier.
    Tardy V, Menassa R, Sulmont V, Lienhardt-Roussie A, Lecointre C, Brauner R, David M, Morel Y.
    J Clin Endocrinol Metab; 2010 Mar 01; 95(3):1288-300. PubMed ID: 20080860
    [Abstract] [Full Text] [Related]

  • 31. Identification and functional characterization of a novel mutation P459H and a rare mutation R483W in the CYP21A2 gene in two Chinese patients with simple virilizing form of congenital adrenal hyperplasia.
    Jiang L, Song LL, Wang H, Wang JL, Wang PP, Zhou HB, Zhang XL.
    J Endocrinol Invest; 2012 May 01; 35(5):485-9. PubMed ID: 21750395
    [Abstract] [Full Text] [Related]

  • 32. Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera.
    Lao Q, Burkardt DD, Kollender S, Faucz FR, Merke DP.
    Mol Genet Genomic Med; 2023 Jul 01; 11(7):e2195. PubMed ID: 37157918
    [Abstract] [Full Text] [Related]

  • 33. 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 01; 62(1):101-6. PubMed ID: 25319875
    [Abstract] [Full Text] [Related]

  • 34. 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]

  • 35. Mutational characterization of steroid 21-hydroxylase gene in Portuguese patients with congenital adrenal hyperplasia.
    Marques CJ, Pignatelli D, Carvalho B, Barceló J, Almeida AC, Fernandes S, Witchel SF, Sousa M, Oliveira MJ, Freitas P, Fontoura M, Carvalho D, Barros A, Carvalho F.
    Exp Clin Endocrinol Diabetes; 2010 Aug 01; 118(8):505-12. PubMed ID: 19856253
    [Abstract] [Full Text] [Related]

  • 36. 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 01; 22(3):261-280. PubMed ID: 29450859
    [Abstract] [Full Text] [Related]

  • 37.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 38. Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation.
    Shammas C, Byrou S, Phelan MM, Toumba M, Stylianou C, Skordis N, Neocleous V, Phylactou LA.
    Hormones (Athens); 2016 Apr 01; 15(2):235-242. PubMed ID: 27376426
    [Abstract] [Full Text] [Related]

  • 39.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 40.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

    Page: [Previous] [Next] [New Search]
    of 12.