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180 related items for PubMed ID: 38045661

  • 1. Clinical Features of Unrecognized Congenital Adrenal Hyperplasia Due to 17α-hydroxylase Deficiency Since Adolescence: A Case Report.
    Rashmi KG, Ravichandran L, Roy A, Naik D, Kamalanathan S, Sahoo J, Chapla A, Thomas N.
    J ASEAN Fed Endocr Soc; 2023; 38(2):131-134. PubMed ID: 38045661
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. 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]

  • 4. Congenital adrenal hyperplasia causing hypertension: an illustrative review.
    Hinz L, Pacaud D, Kline G.
    J Hum Hypertens; 2018 Feb 31; 32(2):150-157. PubMed ID: 29255217
    [Abstract] [Full Text] [Related]

  • 5. 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 Feb 31; 93(9-10):558-566. PubMed ID: 33780934
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. Flash glucose monitoring system was applied to cortisol treatment for a patient with congenital adrenal hyperplasia and 17α-hydroxylase deficiency.
    Xiang C, Han M, Zhang Y, Yin J, Pei L, Yang J, Liu Y.
    BMC Endocr Disord; 2020 Sep 21; 20(1):144. PubMed ID: 32957973
    [Abstract] [Full Text] [Related]

  • 8. Partial deficiency of 17α-hydroxylase: a rare cause of congenital adrenal hyperplasia.
    Sousa Paredes SC, Marques O, Alves M.
    BMJ Case Rep; 2019 Dec 03; 12(12):. PubMed ID: 31801776
    [Abstract] [Full Text] [Related]

  • 9. A late 17α-hydroxylase deficiency diagnosis that leads to the discovery of a new CYP17 gene mutation.
    Guenego A, Morel Y, Ionesco O, Mallet D, Priou-Guesdon M.
    Ann Endocrinol (Paris); 2015 Feb 03; 76(1):71-4. PubMed ID: 25613935
    [Abstract] [Full Text] [Related]

  • 10. A rare cause of delayed puberty in two cases with 46,XX and 46,XY karyotype: 17 α-hydroxylase deficiency due to a novel variant in CYP17A1 gene.
    Unal E, Yıldırım R, Taş FF, Tekin S, Ceylaner S, Haspolat YK.
    Gynecol Endocrinol; 2020 Aug 03; 36(8):739-742. PubMed ID: 31885295
    [Abstract] [Full Text] [Related]

  • 11. 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 Aug 03; 9(2):91-7. PubMed ID: 25765894
    [Abstract] [Full Text] [Related]

  • 12. 17-alpha-hydroxylase deficiency: a case report with clinical and molecular analysis.
    Li H, Qiao J, Guo H.
    Gynecol Endocrinol; 2010 Jul 03; 26(7):521-3. PubMed ID: 20170344
    [Abstract] [Full Text] [Related]

  • 13. Congenital adrenal hyperplasia disorder due to 17 α-hydroxylase deficiency: a case report.
    Tian Y, Hou L, Xiang S, Tian X, Xu J.
    Gynecol Endocrinol; 2023 Aug 18; 39(1):2250001. PubMed ID: 37683689
    [Abstract] [Full Text] [Related]

  • 14. 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 18; 23(5):576-582. PubMed ID: 28225307
    [Abstract] [Full Text] [Related]

  • 15. [Congenital adrenal hyperplasia due to lack of 17α-hydroxylase: a report of a new mutation in the gene CYP17A1].
    Perales Martínez JI, Pina Marqués B, de Arriba Muñoz A, Mayayo Dehesa E, Labarta Aizpún JI, Loidi Fernández L.
    An Pediatr (Barc); 2015 Jan 18; 82(1):e64-7. PubMed ID: 24593890
    [Abstract] [Full Text] [Related]

  • 16. An Asian case of combined 17α-hydroxylase/17,20-lyase deficiency due to homozygous p.R96Q mutation: A case report and review of the literature.
    Liao Q, Shen R, Liao M, Ran C, Zhou L, Zhang Y, Peng G, Sun Z, Zheng H, Long M.
    Front Endocrinol (Lausanne); 2022 Jan 18; 13():989447. PubMed ID: 36339422
    [Abstract] [Full Text] [Related]

  • 17. Two rare forms of congenital adrenal hyperplasia, 11β hydroxylase deficiency and 17-hydroxylase/17,20-lyase deficiency, presenting with novel mutations.
    Bulsari K, Maple-Brown L, Falhammar H.
    Hormones (Athens); 2018 Mar 18; 17(1):127-132. PubMed ID: 29858860
    [Abstract] [Full Text] [Related]

  • 18. 17α-hydroxylase deficiency diagnosed in early infancy caused by a novel mutation of the CYP17A1 gene.
    Petri C, Wudy SA, Riepe FG, Holterhus PM, Siegel J, Hartmann MF, Kulle AE, Welzel M, Grötzinger J, Schild RL, Heger S.
    Horm Res Paediatr; 2014 Mar 18; 81(5):350-5. PubMed ID: 24714196
    [Abstract] [Full Text] [Related]

  • 19. A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation.
    Kim YM, Kang M, Choi JH, Lee BH, Kim GH, Ohn JH, Kim SY, Park MS, Yoo HW.
    Metabolism; 2014 Jan 18; 63(1):42-9. PubMed ID: 24140098
    [Abstract] [Full Text] [Related]

  • 20. A rare cause of delayed puberty and primary amenorrhea: 17α-hydroxylase enzyme deficiency.
    Beştaş A, Bolu S, Unal E, Aktar Karakaya A, Eröz R, Tekin M, Haspolat YK.
    Endocrine; 2022 Mar 18; 75(3):927-933. PubMed ID: 34724156
    [Abstract] [Full Text] [Related]

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