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592 related items for PubMed ID: 24737579

  • 1. AR and SRD5A2 gene mutations in a series of 51 Turkish 46,XY DSD children with a clinical diagnosis of androgen insensitivity.
    Akcay T, Fernandez-Cancio M, Turan S, Güran T, Audi L, Bereket A.
    Andrology; 2014 Jul; 2(4):572-8. PubMed ID: 24737579
    [Abstract] [Full Text] [Related]

  • 2. Novel mutations of the SRD5A2 and AR genes in Thai patients with 46, XY disorders of sex development.
    Ittiwut C, Pratuangdejkul J, Supornsilchai V, Muensri S, Hiranras Y, Sahakitrungruang T, Watcharasindhu S, Suphapeetiporn K, Shotelersuk V.
    J Pediatr Endocrinol Metab; 2017 Jan 01; 30(1):19-26. PubMed ID: 27849622
    [Abstract] [Full Text] [Related]

  • 3. Clinical characteristics and molecular genetics of complete androgen insensitivity syndrome patients: a series study of 30 cases from a Chinese tertiary medical center.
    Zhang D, Yao F, Tian T, Deng S, Luo M, Tian Q.
    Fertil Steril; 2021 May 01; 115(5):1270-1279. PubMed ID: 33602557
    [Abstract] [Full Text] [Related]

  • 4. Investigation of androgen receptor gene mutations in a series of 21 patients with 46,XY disorders of sex development.
    Topcu V, Ilgin-Ruhi H, Siklar Z, Karabulut HG, Berberoglu M, Hacihamdioglu B, Savas-Erdeve S, Aycan Z, Peltek-Kendirci HN, Ocal G, Tukun FA.
    J Pediatr Endocrinol Metab; 2015 Nov 01; 28(11-12):1257-63. PubMed ID: 26197461
    [Abstract] [Full Text] [Related]

  • 5. Clinical, hormonal and genetic characteristics of androgen insensitivity syndrome in 39 Chinese patients.
    Liu Q, Yin X, Li P.
    Reprod Biol Endocrinol; 2020 Apr 28; 18(1):34. PubMed ID: 32345305
    [Abstract] [Full Text] [Related]

  • 6. Androgen insensitivity syndrome in a cohort of Sri Lankan children with 46, XY disorders of sex development (46, XY DSD).
    de Silva KS, Sirisena ND, Wijenayaka HK, Cooray JG, Jayasekara RW, Dissanayake VH.
    Ceylon Med J; 2015 Dec 28; 60(4):139-42. PubMed ID: 26778393
    [Abstract] [Full Text] [Related]

  • 7. Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD.
    Akcan N, Uyguner O, Baş F, Altunoğlu U, Toksoy G, Karaman B, Avcı Ş, Yavaş Abalı Z, Poyrazoğlu Ş, Aghayev A, Karaman V, Bundak R, Başaran S, Darendeliler F.
    J Clin Res Pediatr Endocrinol; 2022 Jun 07; 14(2):153-171. PubMed ID: 35135181
    [Abstract] [Full Text] [Related]

  • 8. Correlation of androgen receptor and SRD5A2 gene mutations with pediatric hypospadias in 46, XY DSD children.
    Fu XH, Zhang WQ, Qu XS.
    Genet Mol Res; 2016 Mar 31; 15(1):15018232. PubMed ID: 27051040
    [Abstract] [Full Text] [Related]

  • 9. Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development.
    Audi L, Fernández-Cancio M, Carrascosa A, Andaluz P, Torán N, Piró C, Vilaró E, Vicens-Calvet E, Gussinyé M, Albisu MA, Yeste D, Clemente M, Hernández de la Calle I, Del Campo M, Vendrell T, Blanco A, Martínez-Mora J, Granada ML, Salinas I, Forn J, Calaf J, Angerri O, Martínez-Sopena MJ, Del Valle J, García E, Gracia-Bouthelier R, Lapunzina P, Mayayo E, Labarta JI, Lledó G, Sánchez Del Pozo J, Arroyo J, Pérez-Aytes A, Beneyto M, Segura A, Borrás V, Gabau E, Caimarí M, Rodríguez A, Martínez-Aedo MJ, Carrera M, Castaño L, Andrade M, Bermúdez de la Vega JA, Grupo de Apoyo al Síndrome de Insensibilidad a los Andrógenos (GrApSIA).
    J Clin Endocrinol Metab; 2010 Apr 31; 95(4):1876-88. PubMed ID: 20150575
    [Abstract] [Full Text] [Related]

  • 10. Undervirilization in XY newborns may hide a 5α-reductase deficiency: report of three new SRD5A2 gene mutations.
    Maimoun L, Philibert P, Cammas B, Audran F, Pienkowski C, Kurtz F, Heinrich C, Cartigny M, Sultan C.
    Int J Androl; 2010 Dec 31; 33(6):841-7. PubMed ID: 20132346
    [Abstract] [Full Text] [Related]

  • 11. Phenotypic variation in a family with partial androgen insensitivity syndrome explained by differences in 5alpha dihydrotestosterone availability.
    Boehmer AL, Brinkmann AO, Nijman RM, Verleun-Mooijman MC, de Ruiter P, Niermeijer MF, Drop SL.
    J Clin Endocrinol Metab; 2001 Mar 31; 86(3):1240-6. PubMed ID: 11238515
    [Abstract] [Full Text] [Related]

  • 12. Clinical, biochemical and morphologic diagnostic markers in an infant male pseudohermaphrodite patient with compound heterozygous mutations (G115D/R246W) in SRD5A2 gene.
    Fernández-Cancio M, Rodó J, Andaluz P, Martínez de Osaba MJ, Rodríguez-Hierro F, Esteban C, Carrascosa A, Audí L.
    Horm Res; 2004 Mar 31; 62(5):259-64. PubMed ID: 15528927
    [Abstract] [Full Text] [Related]

  • 13. Molecular investigation of mutations in androgen receptor and 5-alpha-reductase-2 genes in 46,XY Disorders of Sex Development with normal testicular development.
    Ahmadifard M, Kajbafzadeh A, Panjeh-Shahi S, Vand-Rajabpour F, Ahmadi-Beni R, Arshadi H, Setoodeh A, Rostami P, Tavakkoly-Bazzaz J, Tabrizi M.
    Andrologia; 2019 Jun 31; 51(5):e13250. PubMed ID: 30815925
    [Abstract] [Full Text] [Related]

  • 14. Molecular analysis of the AR and SRD5A2 genes in patients with 46,XY disorders of sex development.
    Choi JH, Kim GH, Seo EJ, Kim KS, Kim SH, Yoo HW.
    J Pediatr Endocrinol Metab; 2008 Jun 31; 21(6):545-53. PubMed ID: 18717241
    [Abstract] [Full Text] [Related]

  • 15. Androgen insensitivity syndrome: somatic mosaicism of the androgen receptor in seven families and consequences for sex assignment and genetic counseling.
    Köhler B, Lumbroso S, Leger J, Audran F, Grau ES, Kurtz F, Pinto G, Salerno M, Semitcheva T, Czernichow P, Sultan C.
    J Clin Endocrinol Metab; 2005 Jan 31; 90(1):106-11. PubMed ID: 15522944
    [Abstract] [Full Text] [Related]

  • 16. Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients.
    Maimoun L, Philibert P, Cammas B, Audran F, Bouchard P, Fenichel P, Cartigny M, Pienkowski C, Polak M, Skordis N, Mazen I, Ocal G, Berberoglu M, Reynaud R, Baumann C, Cabrol S, Simon D, Kayemba-Kay's K, De Kerdanet M, Kurtz F, Leheup B, Heinrichs C, Tenoutasse S, Van Vliet G, Grüters A, Eunice M, Ammini AC, Hafez M, Hochberg Z, Einaudi S, Al Mawlawi H, Nuñez CJ, Servant N, Lumbroso S, Paris F, Sultan C.
    J Clin Endocrinol Metab; 2011 Feb 31; 96(2):296-307. PubMed ID: 21147889
    [Abstract] [Full Text] [Related]

  • 17. SRD5A2 gene mutations and polymorphisms in Spanish 46,XY patients with a disorder of sex differentiation.
    Fernández-Cancio M, Audí L, Andaluz P, Torán N, Piró C, Albisu M, Gussinyé M, Yeste D, Clemente M, Martínez-Mora J, Blanco A, Granada ML, Marco M, Ferragut J, López-Siguero JP, Beneyto M, Carles C, Carrascosa A.
    Int J Androl; 2011 Dec 31; 34(6 Pt 2):e526-35. PubMed ID: 21631525
    [Abstract] [Full Text] [Related]

  • 18. Molecular diagnostics of disorders of sexual development: an Indian survey and systems biology perspective.
    Nagaraja MR, Gubbala SP, Delphine Silvia CRW, Amanchy R.
    Syst Biol Reprod Med; 2019 Apr 31; 65(2):105-120. PubMed ID: 30550360
    [Abstract] [Full Text] [Related]

  • 19. Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome.
    Ahmed SF, Cheng A, Dovey L, Hawkins JR, Martin H, Rowland J, Shimura N, Tait AD, Hughes IA.
    J Clin Endocrinol Metab; 2000 Feb 31; 85(2):658-65. PubMed ID: 10690872
    [Abstract] [Full Text] [Related]

  • 20. Screening for mutations in 17β-hydroxysteroid dehydrogenase and androgen receptor in women presenting with partially virilised 46,XY disorders of sex development.
    Phelan N, Williams EL, Cardamone S, Lee M, Creighton SM, Rumsby G, Conway GS.
    Eur J Endocrinol; 2015 Jun 31; 172(6):745-51. PubMed ID: 25740850
    [Abstract] [Full Text] [Related]

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