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Journal Abstract Search

164 related items for PubMed ID: 18996963

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. A novel compound heterozygous mutation in the CYP17A1 gene in a patient with 17α-hydroxylase/17,20-lyase deficiency.
    Sun M, Yan X, Feng A, Wu X, Ye E, Wu H, Lu X, Yang H.
    Discov Med; 2017 Nov; 24(133):175-182. PubMed ID: 29278670
    [Abstract] [Full Text] [Related]

  • 3. The Glu331del mutation in the CYP17A1 gene causes atypical congenital adrenal hyperplasia in a 46,XX female.
    Lanzolla G, Vancieri G, Lanciotti S, Sangiuolo F, Menegatti E, Federici L, Moretti C, Brancati F.
    Gynecol Endocrinol; 2017 Dec; 33(12):918-922. PubMed ID: 28609197
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  • 4. 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
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  • 6. 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
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  • 7. 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 Jul 31; 9(2):91-7. PubMed ID: 25765894
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  • 9. 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
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  • 10. A syndrome of female pseudohermaphrodism, hypergonadotropic hypogonadism, and multicystic ovaries associated with missense mutations in the gene encoding aromatase (P450arom).
    Conte FA, Grumbach MM, Ito Y, Fisher CR, Simpson ER.
    J Clin Endocrinol Metab; 1994 Jun 03; 78(6):1287-92. PubMed ID: 8200927
    [Abstract] [Full Text] [Related]

  • 11. 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 03; 24(7):362-7. PubMed ID: 18645707
    [Abstract] [Full Text] [Related]

  • 12. 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 03; 105(6):1612-9. PubMed ID: 26920256
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  • 14. [Genetic mutation analysis of a kindred with a patient suffering from 17 alpha-hydroxylase/17, 20-lyase deficiency].
    Chen Y, Wang W, Wang XM, Dong ZY, Xiao Y, Ni JH, Wang DF.
    Zhonghua Er Ke Za Zhi; 2009 Oct 03; 47(10):789-91. PubMed ID: 20021817
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  • 15. 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 03; 72(3):312-9. PubMed ID: 19508587
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  • 16. Two novel heterozygous mutations in the CYP17A1 gene in a Chinese patient with 17α-hydroxylase 17,20-lyase deficiency.
    Sun X, Li M, Wang Y, Bi Y.
    Discov Med; 2018 Dec 03; 26(145):243-249. PubMed ID: 30695673
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  • 17. Phenotype-genotype correlation in eight Chinese 17alpha-hydroxylase/17,20 lyase-deficiency patients with five novel mutations of CYP17A1 gene.
    Yang J, Cui B, Sun S, Shi T, Zheng S, Bi Y, Liu J, Zhao Y, Chen J, Ning G, Li X.
    J Clin Endocrinol Metab; 2006 Sep 03; 91(9):3619-25. PubMed ID: 16772352
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  • 18. [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 03; 82(1):e64-7. PubMed ID: 24593890
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  • 19. 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 03; 94(8):3058-64. PubMed ID: 19454579
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  • 20. 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 Aug 03; 81(5):350-5. PubMed ID: 24714196
    [Abstract] [Full Text] [Related]

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