BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

247 related articles for article (PubMed ID: 22001134)

  • 1. 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]  

  • 2. The IVS1-2A>G mutation in the SRD5A2 gene predominates in Cypriot patients with 5α reductase deficiency.
    Skordis N; Neocleous V; Kyriakou A; Efstathiou E; Sertedaki A; Philibert P; Phylactou LA; Lumbroso S; Sultan C
    J Endocrinol Invest; 2010 Dec; 33(11):810-4. PubMed ID: 20511729
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Phenotypic and molecular characteristics in eleven Chinese patients with 5α-reductase Type 2 deficiency.
    Zhu H; Liu W; Han B; Fan M; Zhao S; Wang H; Lu Y; Pan C; Chen F; Chen M; Song H; Cheng K; Qiao J
    Clin Endocrinol (Oxf); 2014 Nov; 81(5):711-20. PubMed ID: 24665940
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Molecular genetics and phenotype/genotype correlation of 5-α reductase deficiency in a highly consanguineous population.
    Alswailem MM; Alzahrani OS; Alghofaili L; Qasem E; Almohanaa M; Alsagheir A; Bin Abbas B; Attia NA; Al Shaikh A; Alzahrani AS
    Endocrine; 2019 Feb; 63(2):361-368. PubMed ID: 30269266
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel mutation of SRD5A2 gene in a patient with 5α-reductase 2 deficiency from India.
    Shabir I; Marumudi E; Khurana ML; Khadgawat R
    BMJ Case Rep; 2012 Oct; 2012():. PubMed ID: 23112260
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Molecular diagnosis of 5α-reductase type II deficiency in Brazilian siblings with 46,XY disorder of sex development.
    Leme de Calais FL; Soardi FC; Petroli RJ; Lusa AL; de Paiva E Silva RB; Maciel-Guerra AT; Guerra-Júnior G; de Mello MP
    Int J Mol Sci; 2011; 12(12):9471-80. PubMed ID: 22272144
    [TBL] [Abstract][Full Text] [Related]  

  • 8. New insights into 5α-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype-phenotype profiling of
    Gui B; Song Y; Su Z; Luo FH; Chen L; Wang X; Chen R; Yang Y; Wang J; Zhao X; Fan L; Liu X; Wang Y; Chen S; Gong C
    J Med Genet; 2019 Oct; 56(10):685-692. PubMed ID: 31186340
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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; 51(5):e13250. PubMed ID: 30815925
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Clinical and molecular characterization of 5α-reductase type 2 deficiency due to mutations (p.Q6X, p.R246Q) in SRD5A2 gene.
    Jia W; Zheng D; Zhang L; Li C; Zhang X; Wang F; Guan Q; Fang L; Zhao J; Xu C
    Endocr J; 2018 Jun; 65(6):645-655. PubMed ID: 29643321
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Late Diagnosis of 5-α-Reductase Type 2 Deficiency in an Adolescent Girl with Primary Amenorrhoea.
    Hummadi AA; Yahya AO; Al-Qahtani AM
    Sultan Qaboos Univ Med J; 2017 May; 17(2):e218-e220. PubMed ID: 28690896
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

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

  • 17. 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]  

  • 18. Molecular analysis of the SRD5A2 in 46,XY subjects with incomplete virilization: the P212R substitution of the steroid 5alpha-reductase 2 may constitute an ancestral founder mutation in Mexican patients.
    Vilchis F; Ramos L; Méndez JP; Benavides S; Canto P; Chávez B
    J Androl; 2010; 31(4):358-64. PubMed ID: 20019388
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Primary amenorrhea in four adolescents revealed 5α-reductase deficiency confirmed by molecular analysis.
    Maimoun L; Philibert P; Bouchard P; Ocal G; Leheup B; Fenichel P; Servant N; Paris F; Sultan C
    Fertil Steril; 2011 Feb; 95(2):804.e1-5. PubMed ID: 20850730
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Try235Phe homozygous mutation of the steroid 5-a reductase type 2 (SRD5A2) gene in a Turkish patient.
    Parlak M; Durmaz E; Gursoy S; Bircan I; Akcurin S
    Ann Saudi Med; 2014; 34(3):254-6. PubMed ID: 25266188
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.