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Journal Abstract Search

161 related items for PubMed ID: 26920256

  • 1. Clinical, hormonal, ovarian, and genetic aspects of 46,XX patients with congenital adrenal hyperplasia due to CYP17A1 defects.
    Carvalho LC, Brito VN, Martin RM, Zamboni AM, Gomes LG, Inácio M, Mermejo LM, Coeli-Lacchini F, Teixeira VR, Gonçalves FT, Carrilho AJ, Del Toro Camargo KY, Finkielstain GP, Taboada GF, Frade Costa EM, Domenice S, Mendonca BB.
    Fertil Steril; 2016 Jun; 105(6):1612-9. PubMed ID: 26920256
    [Abstract] [Full Text] [Related]

  • 2. Clinical, Molecular, Functional, and Structural Characterization of CYP17A1 Mutations in Brazilian Patients with 17-Hydroxylase Deficiency.
    Coeli-Lacchini FB, Mermejo LM, Bodoni AF, Elias LLK, Silva WA, Antonini SR, Moreira AC, de Castro M.
    Horm Metab Res; 2020 Mar; 52(3):186-193. PubMed ID: 32215889
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  • 3. [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; 82(1):e64-7. PubMed ID: 24593890
    [Abstract] [Full Text] [Related]

  • 4. Identification of steroid biosynthetic defects in genotype-proven heterozygous individuals for 17alpha-hydroxylase/17,20-lyase deficiency.
    Qiao J, Chen X, Zuo CL, Gu YY, Liu BL, Liang J, Lu YL, Tang JF, Wu YX, Chen MD, Chen JL, Wu WL, Song HD.
    Clin Endocrinol (Oxf); 2010 Mar; 72(3):312-9. PubMed ID: 19508587
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  • 5. 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; 23(5):576-582. PubMed ID: 28225307
    [Abstract] [Full Text] [Related]

  • 6. 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; 94(8):3058-64. PubMed ID: 19454579
    [Abstract] [Full Text] [Related]

  • 7. Homozygous CYP17A1 mutation (H373L) identified in a 46,XX female with combined 17α-hydroxylase/17,20-lyase deficiency.
    Lee MH, Won Park S, Yoon TK, Shim SH.
    Gynecol Endocrinol; 2012 Jul; 28(7):573-6. PubMed ID: 22452398
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  • 9. Clinical characteristics and molecular etiology of partial 17α-hydroxylase deficiency diagnosed in 46,XX patients.
    Zhang D, Yao F, Luo M, Wang Y, Tian T, Deng S, Tian Q.
    Front Endocrinol (Lausanne); 2022 Jul; 13():978026. PubMed ID: 36589849
    [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; 36(8):739-742. PubMed ID: 31885295
    [Abstract] [Full Text] [Related]

  • 11. A new compound heterozygous mutation in the CYP17A1 gene in a female with 17α-hydroxylase/17,20-lyase deficiency.
    Lee ES, Kim M, Moon S, Jekarl DW, Lee S, Kim Y, Choi GY.
    Gynecol Endocrinol; 2013 Jul; 29(7):720-3. PubMed ID: 23772786
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  • 13. 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; 75(3):927-933. PubMed ID: 34724156
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  • 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 Mar; 9(2):91-7. PubMed ID: 25765894
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  • 16. Puberty in a case with novel 17-hydroxylase mutation and the putative role of estrogen in development of pubic hair.
    Turan S, Bereket A, Guran T, Akcay T, Papari-Zareei M, Auchus RJ.
    Eur J Endocrinol; 2009 Feb; 160(2):325-30. PubMed ID: 18996963
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  • 17. A novel homozygous CYP17A1 mutation causes partial 17 α-hydroxylase/17,20-lyase deficiency in 46,XX: a case report and literature review.
    Chen H, Chen Y, Mao H, Huang H, Lou X.
    Blood Press; 2023 Dec; 32(1):2195008. PubMed ID: 37088984
    [Abstract] [Full Text] [Related]

  • 18. P450c17 deficiency in Brazilian patients: biochemical diagnosis through progesterone levels confirmed by CYP17 genotyping.
    Martin RM, Lin CJ, Costa EM, de Oliveira ML, Carrilho A, Villar H, Longui CA, Mendonca BB.
    J Clin Endocrinol Metab; 2003 Dec; 88(12):5739-46. PubMed ID: 14671162
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  • 19. Six new cases confirm the clinical molecular profile of complete combined 17α-hydroxylase/ 17,20-lyase deficiency in Brazil.
    Belgini DR, Mello MP, Baptista MT, Oliveira DM, Denardi FC, Garmes HM, Grassiotto Oda R, Benetti Pinto CL, Marques-de-Faria AP, Maciel-Guerra AT, Guerra-Júnior G.
    Arq Bras Endocrinol Metabol; 2010 Nov; 54(8):711-6. PubMed ID: 21340157
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  • 20. 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 Nov; 93(9-10):558-566. PubMed ID: 33780934
    [Abstract] [Full Text] [Related]

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