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136 related items for PubMed ID: 22841373

  • 1. 17α-hydroxlyase/17, 20-lyase deficiency in three siblings with primary amenorrhea and absence of secondary sexual development.
    Oh YK, Ryoo U, Kim D, Cho SY, Jin DK, Yoon BK, Lee DY, Choi D.
    J Pediatr Adolesc Gynecol; 2012 Oct; 25(5):e103-5. PubMed ID: 22841373
    [Abstract] [Full Text] [Related]

  • 2. Primary amenorrhea in two sisters: description of a Mexican family with 17α hydroxylase-17 lyase deficiency caused by arginine - stop mutation.
    Escamilla-Márquez MA, Garduño-Garcia Jde J, Ordóñez-Sanchez ML, Reza-Albarrán A, Tusie-Luna MT, Gómez Pérez FJ, Aguilar-Salinas CA.
    Gynecol Endocrinol; 2012 Sep; 28(9):733-5. PubMed ID: 22309630
    [Abstract] [Full Text] [Related]

  • 3. The broad phenotypic spectrum of 17α-hydroxylase/17,20-lyase (CYP17A1) deficiency: a case series.
    Sun M, Mueller JW, Gilligan LC, Taylor AE, Shaheen F, Noczyńska A, T'Sjoen G, Denvir L, Shenoy S, Fulton P, Cheetham TD, Gleeson H, Rahman M, Krone NP, Taylor NF, Shackleton CHL, Arlt W, Idkowiak J.
    Eur J Endocrinol; 2021 Oct 11; 185(5):729-741. PubMed ID: 34524979
    [Abstract] [Full Text] [Related]

  • 4. 17-alpha-hydroxylase deficiency: a case report with clinical and molecular analysis.
    Li H, Qiao J, Guo H.
    Gynecol Endocrinol; 2010 Jul 11; 26(7):521-3. PubMed ID: 20170344
    [Abstract] [Full Text] [Related]

  • 5. Partial 17alpha-hydroxylase/17,20-lyase deficiency-clinical report of five Chinese 46,XX cases.
    Tian Q, Zhang Y, Lu Z.
    Gynecol Endocrinol; 2008 Jul 11; 24(7):362-7. PubMed ID: 18645707
    [Abstract] [Full Text] [Related]

  • 6. 17α-HYDROXYLASE/17, 20-LYASE DEFICIENCY: CLINICAL AND MOLECULAR CHARACTERIZATION OF EIGHT CHINESE PATIENTS.
    Wu C, Fan S, Qian Y, Zhou Y, Jin J, Dai Z, Jiang L.
    Endocr Pract; 2017 May 11; 23(5):576-582. PubMed ID: 28225307
    [Abstract] [Full Text] [Related]

  • 7. A Rare Cause of Congenital Adrenal Hyperplasia: Clinical and Genetic Findings and Follow-up Characteristics of Six Patients with 17-Hydroxylase Deficiency Including Two Novel Mutations.
    Kardelen AD, Toksoy G, Baş F, Yavaş Abalı Z, Gençay G, Poyrazoğlu Ş, Bundak R, Altunoğlu U, Avcı Ş, Najaflı A, Uyguner O, Karaman B, Başaran S, Darendeliler F.
    J Clin Res Pediatr Endocrinol; 2018 Jul 31; 10(3):206-215. PubMed ID: 29595516
    [Abstract] [Full Text] [Related]

  • 8. New, recurrent, and prevalent mutations: Clinical and molecular characterization of 26 Chinese patients with 17alpha-hydroxylase/17,20-lyase deficiency.
    Zhang M, Sun S, Liu Y, Zhang H, Jiao Y, Wang W, Li X.
    J Steroid Biochem Mol Biol; 2015 Jun 31; 150():11-6. PubMed ID: 25697092
    [Abstract] [Full Text] [Related]

  • 9. A report of congenital adrenal hyperplasia due to 17α-hydroxylase deficiency in two 46,XX sisters.
    Espinosa-Herrera F, Espín E, Tito-Álvarez AM, Beltrán LJ, Gómez-Correa D, Burgos G, Llamos A, Zurita C, Rojas S, Dueñas-Espín I, Cueva-Ludeña K, Salazar-Vega J, Pinto-Basto J.
    Gynecol Endocrinol; 2020 Jan 31; 36(1):24-29. PubMed ID: 31464148
    [Abstract] [Full Text] [Related]

  • 10. Combined 17α-hydroxylase/17,20-lyase deficiency with short stature: case study.
    Ma L, Peng F, Yu L, Chen J, Ji W, Zhang C, Zhang X.
    Gynecol Endocrinol; 2016 Jan 31; 32(4):264-6. PubMed ID: 26607998
    [Abstract] [Full Text] [Related]

  • 11. Presentation, Diagnosis, and Follow-Up Characteristics of 17α-Hydroxylase Deficiency Cases with Exon 1-6 Deletion (Founder Mutation) in the CYP17A1Gene: 20-Year Single-Center Experience.
    Dundar I, Akinci A, Camtosun E, Ciftci N, Kayas L.
    Sex Dev; 2023 Jan 31; 17(1):43-50. PubMed ID: 36652930
    [Abstract] [Full Text] [Related]

  • 12. Genotypic Sex and Severity of the Disease Determine the Time of Clinical Presentation in Steroid 17α-Hydroxylase/17,20-Lyase Deficiency.
    Kurnaz E, Kartal Baykan E, Türkyılmaz A, Yaralı O, Yavaş Abalı Z, Turan S, Bereket A, Çayır A, Guran T.
    Horm Res Paediatr; 2020 Jan 31; 93(9-10):558-566. PubMed ID: 33780934
    [Abstract] [Full Text] [Related]

  • 13. Genetic defect of a combined 17 α-hydroxylase/17,20-lyase deficiency patient with adrenal crisis.
    Zhang Y, Zhang X, Wang Y, Hua K, Ding J.
    Gynecol Endocrinol; 2018 Jun 31; 34(6):540-544. PubMed ID: 29345162
    [Abstract] [Full Text] [Related]

  • 14. Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic.
    Auchus RJ.
    J Steroid Biochem Mol Biol; 2017 Jan 31; 165(Pt A):71-78. PubMed ID: 26862015
    [Abstract] [Full Text] [Related]

  • 15. Identification of a novel large CYP17A1 deletion by MLPA analysis in a family with classic 17α-hydroxylase deficiency.
    Turkkahraman D, Guran T, Ivison H, Griffin A, Vijzelaar R, Krone N.
    Sex Dev; 2015 Jan 31; 9(2):91-7. PubMed ID: 25765894
    [Abstract] [Full Text] [Related]

  • 16. Male pseudohermaphroditism as a cause of secondary hypertension: a case report.
    Aydin Z, Ozturk S, Gursu M, Uzun S, Karadag S, Kazancioglu R.
    Endocrine; 2010 Aug 31; 38(1):100-3. PubMed ID: 20960109
    [Abstract] [Full Text] [Related]

  • 17. Steroid 17alpha-hydroxylase deficiency: functional characterization of four mutations (A174E, V178D, R440C, L465P) in the CYP17A1 gene.
    Dhir V, Reisch N, Bleicken CM, Lebl J, Kamrath C, Schwarz HP, Grötzinger J, Sippell WG, Riepe FG, Arlt W, Krone N.
    J Clin Endocrinol Metab; 2009 Aug 31; 94(8):3058-64. PubMed ID: 19454579
    [Abstract] [Full Text] [Related]

  • 18. Genetic diagnosis and clinical analysis of 17α-hydroxylase/17, 20-lyase deficiency combined with type 2 diabetes mellitus: A case report.
    Zhang Y, Yuan Y.
    Medicine (Baltimore); 2023 Dec 29; 102(52):e36727. PubMed ID: 38206738
    [Abstract] [Full Text] [Related]

  • 19. Discordant Genotypic Sex and Phenotype Variations in Two Spanish Siblings with 17α-Hydroxylase/17,20-Lyase Deficiency Carrying the Most Prevalent Mutated CYP17A1 Alleles of Brazilian Patients.
    Fernández-Cancio M, García-García E, González-Cejudo C, Martínez-Maestre MA, Mangas-Cruz MA, Guerra-Junior G, Pandi de Mello M, Arnhold IJP, Nishi MY, Bilharinho Mendonça B, García-Arumí E, Audí L, Tizzano E, Carrascosa A.
    Sex Dev; 2017 Dec 29; 11(2):70-77. PubMed ID: 28376482
    [Abstract] [Full Text] [Related]

  • 20. 17α‑hydroxylase/17,20‑lyase deficiency in congenital adrenal hyperplasia: A case report.
    Xu S, Hu S, Yu X, Zhang M, Yang Y.
    Mol Med Rep; 2017 Jan 29; 15(1):339-344. PubMed ID: 27959413
    [Abstract] [Full Text] [Related]

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