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Journal Abstract Search

240 related items for PubMed ID: 10971093

  • 1. Mutational analysis in Lebanese patients with congenital adrenal hyperplasia due to a deficit in 21-hydroxylase.
    Delague V, Souraty N, Khallouf E, Tardy V, Chouery E, Halaby G, Loiselet J, Morel Y, Mégarbané A.
    Horm Res; 2000; 53(2):77-82. PubMed ID: 10971093
    [Abstract] [Full Text] [Related]

  • 2. Mutational spectrum of congenital adrenal hyperplasia in Slovenian patients: a novel Ala15Thr mutation and Pro30Leu within a larger gene conversion associated with a severe form of the disease.
    Dolzan V, Stopar-Obreza M, Zerjav-Tansek M, Breskvar K, Krzisnik C, Battelino T.
    Eur J Endocrinol; 2003 Aug; 149(2):137-44. PubMed ID: 12887291
    [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. [CYP21 gene point mutations study in 21-hydroxylase deficiency patients].
    Liao XY, Zhang YF, Gu XF.
    Zhonghua Er Ke Za Zhi; 2003 Sep 10; 41(9):670-4. PubMed ID: 14733808
    [Abstract] [Full Text] [Related]

  • 5. Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia.
    Dolzan V, Sólyom J, Fekete G, Kovács J, Rakosnikova V, Votava F, Lebl J, Pribilincova Z, Baumgartner-Parzer SM, Riedl S, Waldhauser F, Frisch H, Stopar-Obreza M, Krzisnik C, Battelino T.
    Eur J Endocrinol; 2005 Jul 10; 153(1):99-106. PubMed ID: 15994751
    [Abstract] [Full Text] [Related]

  • 6. 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 10; 75(4):427-35. PubMed ID: 21609351
    [Abstract] [Full Text] [Related]

  • 7. Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency: identification of four novel mutations and high prevalence of Q318X mutation.
    Kharrat M, Tardy V, M'Rad R, Maazoul F, Jemaa LB, Refaï M, Morel Y, Chaabouni H.
    J Clin Endocrinol Metab; 2004 Jan 10; 89(1):368-74. PubMed ID: 14715874
    [Abstract] [Full Text] [Related]

  • 8. Screening for mutations of 21-hydroxylase gene in Hungarian patients with congenital adrenal hyperplasia.
    Ferenczi A, Garami M, Kiss E, Pék M, Sasvári-Székely M, Barta C, Staub M, Sólyom J, Fekete G.
    J Clin Endocrinol Metab; 1999 Jul 10; 84(7):2369-72. PubMed ID: 10404805
    [Abstract] [Full Text] [Related]

  • 9. Phenotype and genotype correlation of the microconversion from the CYP21A1P to the CYP21A2 gene in congenital adrenal hyperplasia.
    Torres N, Mello MP, Germano CM, Elias LL, Moreira AC, Castro M.
    Braz J Med Biol Res; 2003 Oct 10; 36(10):1311-8. PubMed ID: 14502362
    [Abstract] [Full Text] [Related]

  • 10. Molecular analysis of the CYP21 gene and prenatal diagnosis in families with 21-hydroxylase deficiency in northeastern Iran.
    Vakili R, Baradaran-Heravi A, Barid-Fatehi B, Gholamin M, Ghaemi N, Abbaszadegan MR.
    Horm Res; 2005 Oct 10; 63(3):119-24. PubMed ID: 15775714
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. Mutations of the steroid 21-hydroxylase gene in an Argentinian population of 36 patients with classical congenital adrenal hyperplasia.
    Dardis A, Bergada I, Bergada C, Rivarola M, Belgorosky A.
    J Pediatr Endocrinol Metab; 1997 Oct 10; 10(1):55-61. PubMed ID: 9364343
    [Abstract] [Full Text] [Related]

  • 13. Salt-wasting congenital adrenal hyperplasia: detection and characterization of mutations in the steroid 21-hydroxylase gene, CYP21, using the polymerase chain reaction.
    Owerbach D, Ballard AL, Draznin MB.
    J Clin Endocrinol Metab; 1992 Mar 10; 74(3):553-8. PubMed ID: 1740489
    [Abstract] [Full Text] [Related]

  • 14. A rapid screening for steroid 21-hydroxylase mutations in patients with congenital adrenal hyperplasia. Mutations in brief no. 247. Online.
    Kapelari K, Ghanaati Z, Wollmann H, Ventz M, Ranke MB, Kofler R, Peters H.
    Hum Mutat; 1999 Mar 10; 13(6):505. PubMed ID: 10408786
    [Abstract] [Full Text] [Related]

  • 15. Molecular characterization of mutations in Indian children with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency.
    Mathur R, Menon PS, Kabra M, Goyal RK, Verma IC.
    J Pediatr Endocrinol Metab; 2001 Jan 10; 14(1):27-35. PubMed ID: 11220701
    [Abstract] [Full Text] [Related]

  • 16. CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations.
    Stikkelbroeck NM, Hoefsloot LH, de Wijs IJ, Otten BJ, Hermus AR, Sistermans EA.
    J Clin Endocrinol Metab; 2003 Aug 10; 88(8):3852-9. PubMed ID: 12915679
    [Abstract] [Full Text] [Related]

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

  • 18. Divergent phenotype of two siblings human leukocyte antigen identical, affected by nonclassical and classical congenital adrenal hyperplasia caused by 21-hydroxylase deficiency.
    Porzio O, Cunsolo V, Malaponti M, De Nisco E, Acquafredda A, Cavallo L, Andreani M, Giardina E, Testi M, Cappa M, Federici G.
    J Clin Endocrinol Metab; 2006 Nov 10; 91(11):4510-3. PubMed ID: 16912133
    [Abstract] [Full Text] [Related]

  • 19. Molecular identification of combined homozygous and compound heterozygous mutations in the CYP21 gene in simple virilizing congenital adrenal hyperplasia in Taiwan.
    Wang HH, Lee HH, Wu DA, Lee YJ, Chung BC, Wang TR.
    Acta Paediatr Taiwan; 2003 Nov 10; 44(6):339-42. PubMed ID: 14983655
    [Abstract] [Full Text] [Related]

  • 20. 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]

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