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

176 related items for PubMed ID: 36447832

  • 1. Dual Heterozygous Mutations in CYP21A2 and CYP11B1 in a Case of Nonclassic Congenital Adrenal Hyperplasia.
    Frontera ED, Brown JJ, Ghareebian H, Mariash C.
    AACE Clin Case Rep; 2022; 8(6):271-274. PubMed ID: 36447832
    [Abstract] [Full Text] [Related]

  • 2. Phenotypic profiling of parents with cryptic nonclassic congenital adrenal hyperplasia: findings in 145 unrelated families.
    Nandagopal R, Sinaii N, Avila NA, Van Ryzin C, Chen W, Finkielstain GP, Mehta SP, McDonnell NB, Merke DP.
    Eur J Endocrinol; 2011 Jun; 164(6):977-84. PubMed ID: 21444649
    [Abstract] [Full Text] [Related]

  • 3. Relationship of CYP21A2 genotype and serum 17-hydroxyprogesterone and cortisol levels in a large cohort of Italian children with premature pubarche.
    Ghizzoni L, Cappa M, Vottero A, Ubertini G, Carta D, Di Iorgi N, Gasco V, Marchesi M, Raggi V, Ibba A, Napoli F, Massimi A, Maghnie M, Loche S, Porzio O.
    Eur J Endocrinol; 2011 Aug; 165(2):307-14. PubMed ID: 21646284
    [Abstract] [Full Text] [Related]

  • 4. Serum 21-Deoxycortisol for Diagnosis of Nonclassic Congenital Adrenal Hyperplasia in Women With Androgen Excess.
    Ng JL, Lim EM, Zhang R, Beilby JP, Watts GF, Brown SJ, Stuckey BGA.
    J Clin Endocrinol Metab; 2023 Nov 17; 108(12):e1560-e1570. PubMed ID: 37358001
    [Abstract] [Full Text] [Related]

  • 5. Assisted Reproduction in Congenital Adrenal Hyperplasia.
    Chatziaggelou A, Sakkas EG, Votino R, Papagianni M, Mastorakos G.
    Front Endocrinol (Lausanne); 2019 Nov 17; 10():723. PubMed ID: 31708872
    [Abstract] [Full Text] [Related]

  • 6. Non-classical 11β-hydroxylase deficiency caused by a novel heterozygous mutation: a case report and review of the literature.
    Tang S, Xu W, Xuan M, Liu Q, Li Y, Kong D, Yang H, Liu Y, Xue Y.
    Endocrine; 2024 Jun 17; 84(3):1193-1205. PubMed ID: 38411873
    [Abstract] [Full Text] [Related]

  • 7. Adrenal steroid profiling as a diagnostic tool to differentiate polycystic ovary syndrome from nonclassic congenital adrenal hyperplasia: pinpointing easy screening possibilities and normal cutoff levels using liquid chromatography tandem mass spectrometry.
    Ueland GÅ, Dahl SR, Methlie P, Hessen S, Husebye ES, Thorsby PM.
    Fertil Steril; 2022 Aug 17; 118(2):384-391. PubMed ID: 35725670
    [Abstract] [Full Text] [Related]

  • 8. Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.
    Parajes S, Loidi L, Reisch N, Dhir V, Rose IT, Hampel R, Quinkler M, Conway GS, Castro-Feijóo L, Araujo-Vilar D, Pombo M, Dominguez F, Williams EL, Cole TR, Kirk JM, Kaminsky E, Rumsby G, Arlt W, Krone N.
    J Clin Endocrinol Metab; 2010 Feb 17; 95(2):779-88. PubMed ID: 20089618
    [Abstract] [Full Text] [Related]

  • 9. Congenital adrenal hyperplasia caused by compound heterozygosity of two novel CYP11B1 gene variants.
    Fylaktou I, Smyrnaki P, Sertedaki A, Dracopoulou M, Kanaka-Gantenbein C.
    Hormones (Athens); 2022 Mar 17; 21(1):155-161. PubMed ID: 34697763
    [Abstract] [Full Text] [Related]

  • 10. Clinical and Genetic Characteristics of Patients with Common and Rare Types of Congenital Adrenal Hyperplasia: Novel Variants in STAR and CYP17A1.
    Koprulu O, Ozkan B, Acar S, Nalbantoglu O, Ozkaya Donmez B, Arslan G, Hazan F, Gursoy S.
    Sisli Etfal Hastan Tip Bul; 2022 Mar 17; 56(2):291-298. PubMed ID: 35990289
    [Abstract] [Full Text] [Related]

  • 11. Genotype-Specific Cortisol Reserve in a Cohort of Subjects With Nonclassic Congenital Adrenal Hyperplasia (NCCAH).
    Koren I, Weintrob N, Kebesch R, Majdoub H, Stein N, Naor S, Segev-Becker A.
    J Clin Endocrinol Metab; 2024 Feb 20; 109(3):852-857. PubMed ID: 37715965
    [Abstract] [Full Text] [Related]

  • 12. HEALTH-RELATED QUALITY OF LIFE IN CHILDREN AND ADOLESCENTS WITH NONCLASSIC CONGENITAL ADRENAL HYPERPLASIA.
    Brener A, Segev-Becker A, Weintrob N, Stein R, Interator H, Schachter-Davidov A, Israeli G, Elkon-Tamir E, Lebenthal Y, Eyal O, Oren A.
    Endocr Pract; 2019 Aug 20; 25(8):794-799. PubMed ID: 31013157
    [Abstract] [Full Text] [Related]

  • 13. Rare nonclassic type of Congenital adrenal hyperplasia due to 21-hydroxylase deficiency and genotype-phenotypic correlation.
    Hou Y, Li Y, Ai J, Tian L.
    Heliyon; 2024 Mar 15; 10(5):e27042. PubMed ID: 38439885
    [Abstract] [Full Text] [Related]

  • 14. Recommendations for treatment of nonclassic congenital adrenal hyperplasia (NCCAH): an update.
    Trapp CM, Oberfield SE.
    Steroids; 2012 Mar 10; 77(4):342-6. PubMed ID: 22186144
    [Abstract] [Full Text] [Related]

  • 15. 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 10; 15(2):235-242. PubMed ID: 27376426
    [Abstract] [Full Text] [Related]

  • 16. Phenotypic, metabolic, and molecular genetic characterization of six patients with congenital adrenal hyperplasia caused by novel mutations in the CYP11B1 gene.
    Nguyen HH, Eiden-Plach A, Hannemann F, Malunowicz EM, Hartmann MF, Wudy SA, Bernhardt R.
    J Steroid Biochem Mol Biol; 2016 Jan 10; 155(Pt A):126-34. PubMed ID: 26476331
    [Abstract] [Full Text] [Related]

  • 17. Genetics of congenital adrenal hyperplasia.
    Krone N, Arlt W.
    Best Pract Res Clin Endocrinol Metab; 2009 Apr 10; 23(2):181-92. PubMed ID: 19500762
    [Abstract] [Full Text] [Related]

  • 18. The phenotype of hirsute women: a comparison of polycystic ovary syndrome and 21-hydroxylase-deficient nonclassic adrenal hyperplasia.
    Pall M, Azziz R, Beires J, Pignatelli D.
    Fertil Steril; 2010 Jul 10; 94(2):684-9. PubMed ID: 19726039
    [Abstract] [Full Text] [Related]

  • 19. Congenital adrenal hyperplasia due to 11-hydroxylase deficiency-Compound heterozygous mutations of a prevalent and two novel CYP11B1 mutations.
    Gu C, Tan H, Yang J, Lu Y, Ma Y.
    Gene; 2017 Aug 30; 626():89-94. PubMed ID: 28514642
    [Abstract] [Full Text] [Related]

  • 20. Compound heterozygosity of a novel Q73X mutation and a known R141X mutation in CYP11B1 resulting in 11β-hydroxylase deficiency in a Chinese boy with congenital adrenal hyperplasia.
    Wei C, Zhang Z, Sang M, Dai H, Yang T, Sun M.
    J Steroid Biochem Mol Biol; 2021 Jul 30; 211():105882. PubMed ID: 33785438
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 9.