BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

344 related articles for article (PubMed ID: 20395661)

  • 1. Difficulties in diagnosis and treatment of 5alpha-reductase type 2 deficiency in a newborn with 46,XY DSD.
    Walter KN; Kienzle FB; Frankenschmidt A; Hiort O; Wudy SA; van der Werf-Grohmann N; Superti-Furga A; Schwab KO
    Horm Res Paediatr; 2010; 74(1):67-71. PubMed ID: 20395661
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Practical approach to steroid 5alpha-reductase type 2 deficiency.
    Cheon CK
    Eur J Pediatr; 2011 Jan; 170(1):1-8. PubMed ID: 20349245
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Genotype-phenotype correlation, gonadal malignancy risk, gender preference, and testosterone/dihydrotestosterone ratio in steroid 5-alpha-reductase type 2 deficiency: a multicenter study from Turkey.
    Abacı A; Çatlı G; Kırbıyık Ö; Şahin NM; Abalı ZY; Ünal E; Şıklar Z; Mengen E; Özen S; Güran T; Kara C; Yıldız M; Eren E; Nalbantoğlu Ö; Güven A; Çayır A; Akbaş ED; Kor Y; Çürek Y; Aycan Z; Baş F; Darcan Ş; Berberoğlu M
    J Endocrinol Invest; 2019 Apr; 42(4):453-470. PubMed ID: 30132287
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 62(5):259-64. PubMed ID: 15528927
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 96(2):296-307. PubMed ID: 21147889
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Phenotype, genotype and gender identity in a large cohort of patients from India with 5α-reductase 2 deficiency.
    Shabir I; Khurana ML; Joseph AA; Eunice M; Mehta M; Ammini AC
    Andrology; 2015 Nov; 3(6):1132-9. PubMed ID: 26453174
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Choice of gender in 5alpha-reductase deficiency: a moving target.
    Houk CP; Damiani D; Lee PA
    J Pediatr Endocrinol Metab; 2005 Apr; 18(4):339-45. PubMed ID: 15844467
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutations in
    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; 14(2):153-171. PubMed ID: 35135181
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Phenotypic classification of male pseudohermaphroditism due to steroid 5 alpha-reductase 2 deficiency.
    Sinnecker GH; Hiort O; Dibbelt L; Albers N; Dörr HG; Hauss H; Heinrich U; Hemminghaus M; Hoepffner W; Holder M; Schnabel D; Kruse K
    Am J Med Genet; 1996 May; 63(1):223-30. PubMed ID: 8723114
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Effects of pre- and post-pubertal dihydrotestosterone treatment on penile length in 5α-reductase type 2 deficiency.
    Sasaki G; Ishii T; Hori N; Amano N; Homma K; Sato S; Hasegawa T
    Endocr J; 2019 Sep; 66(9):837-842. PubMed ID: 31178538
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 21(6):545-53. PubMed ID: 18717241
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 5α-Reductase-2 Deficiency: Clinical Findings, Endocrine Pitfalls, and Genetic Features in a Large Italian Cohort.
    Bertelloni S; Baldinotti F; Russo G; Ghirri P; Dati E; Michelucci A; Moscuzza F; Meroni S; Colombo I; Sessa MR; Baroncelli GI
    Sex Dev; 2016; 10(1):28-36. PubMed ID: 27070133
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Recognition of 5α-reductase-2 deficiency in an adult female 46XY DSD clinic.
    Berra M; Williams EL; Muroni B; Creighton SM; Honour JW; Rumsby G; Conway GS
    Eur J Endocrinol; 2011 Jun; 164(6):1019-25. PubMed ID: 21402750
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 5alpha-reductase 2 gene mutations in three unrelated patients of Greek Cypriot origin: identification of an ancestral founder effect.
    Skordis N; Patsalis PC; Bacopoulou I; Sismani C; Sultan C; Lumbroso S
    J Pediatr Endocrinol Metab; 2005 Mar; 18(3):241-6. PubMed ID: 15813602
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Phenotype and molecular characteristics in 45 Chinese children with 5α-reductase type 2 deficiency from South China.
    Cheng J; Lin R; Zhang W; Liu G; Sheng H; Li X; Zhou Z; Mao X; Liu L
    Clin Endocrinol (Oxf); 2015 Oct; 83(4):518-26. PubMed ID: 25899528
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Late diagnosis of 5alpha steroid-reductase deficiency due to IVS12A>G mutation of the SRD5a2 gene in an adolescent girl presented with primary amenorrhea.
    Skordis N; Shammas C; Efstathiou E; Sertedaki A; Neocleous V; Phylactou L
    Hormones (Athens); 2011; 10(3):230-5. PubMed ID: 22001134
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Early diagnosis of 5alpha-reductase deficiency in newborns.
    Bertelloni S; Scaramuzzo RT; Parrini D; Baldinotti F; Tumini S; Ghirri P
    Sex Dev; 2007; 1(3):147-51. PubMed ID: 18391525
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical characterization and analysis of the SRD5A2 gene in six Korean patients with 5alpha-reductase type 2 deficiency.
    Ko JM; Cheon CK; Kim GH; Kim SH; Kim KS; Yoo HW
    Horm Res Paediatr; 2010; 73(1):41-8. PubMed ID: 20190539
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Steroid 5α-reductase 2 deficiency.
    Mendonca BB; Batista RL; Domenice S; Costa EM; Arnhold IJ; Russell DW; Wilson JD
    J Steroid Biochem Mol Biol; 2016 Oct; 163():206-11. PubMed ID: 27224879
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Molecular genetic analysis and human chorionic gonadotropin stimulation tests in the diagnosis of prepubertal patients with partial 5 alpha-reductase deficiency.
    Hiort O; Willenbring H; Albers N; Hecker W; Engert J; Dibbelt L; Sinnecker GH
    Eur J Pediatr; 1996 Jun; 155(6):445-51. PubMed ID: 8789759
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 18.