BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

212 related articles for article (PubMed ID: 31186340)

  • 1. 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]  

  • 2. 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]  

  • 3. Clinical, Hormonal, and Genetic Characteristics of 5α-Reductase Type 2 Deficiency in 103 Chinese Patients.
    Liu Q; Yin X; Li P
    Endocr Pract; 2022 Sep; 28(9):859-866. PubMed ID: 35700942
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Identification of three novel
    Cheng T; Wang H; Han B; Zhu H; Yao HJ; Zhao SX; Zhu WJ; Zhai HL; Chen FG; Song HD; Cheng KX; Liu Y; Qiao J
    Asian J Androl; 2019; 21(6):577-581. PubMed ID: 31031332
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Genetic Analysis of 25 Patients with 5
    Han B; Cheng T; Zhu H; Yu J; Zhu WJ; Song HD; Yao H; Qiao J
    Biomed Res Int; 2020; 2020():1789514. PubMed ID: 32596280
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. Clinical characteristics and genotype-phenotype correlations of 130 Chinese children in a high-homogeneity single-center cohort with 5α-reductase 2 deficiency.
    Fan L; Song Y; Polak M; Li L; Ren X; Zhang B; Wu D; Gong C
    Mol Genet Genomic Med; 2020 Oct; 8(10):e1431. PubMed ID: 32713132
    [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. [Identification of a novel variant of SRD5A2 gene in a child featuring steroid 5α-reductase type 2 deficiency].
    Li M; Che F; Qiu S; Wang Z
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Dec; 38(12):1233-1236. PubMed ID: 34839514
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. The Molecular Basis of 5α-Reductase Type 2 Deficiency.
    Batista RL; Mendonca BB
    Sex Dev; 2022; 16(2-3):171-183. PubMed ID: 35793650
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. In vitro functional study of fifteen SRD5A2 variants found in Chinese patients and the relation between the SRD5A2 genotypes and phenotypes.
    Zhang W; Yu B; Luo W; Sun B; Zhang X; Wang X; Mao J; Nie M; Wu X
    J Steroid Biochem Mol Biol; 2023 Dec; 235():106421. PubMed ID: 37918676
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Genotype-phenotype correlation and identification of two novel SRD5A2 mutations in 33 Chinese patients with hypospadias.
    Yuan S; Meng L; Zhang Y; Tu C; Du J; Li W; Liang P; Lu G; Tan YQ
    Steroids; 2017 Sep; 125():61-66. PubMed ID: 28663096
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Unexpected ethical dilemmas in sex assignment in 46,XY DSD due to 5-alpha reductase type 2 deficiency.
    Byers HM; Mohnach LH; Fechner PY; Chen M; Thomas IH; Ramsdell LA; Shnorhavorian M; McCauley EA; Amies Oelschlager AE; Park JM; Sandberg DE; Adam MP; Keegan CE
    Am J Med Genet C Semin Med Genet; 2017 Jun; 175(2):260-267. PubMed ID: 28544750
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. The Genotype-Phenotype Correlation in Human 5α-Reductase Type 2 Deficiency: Classified and Analyzed from a SRD5A2 Structural Perspective.
    Seo J; Shin S; Kim SW; Kim SJ; Lee M; Song K; Suh J; Lee ST; Lee YS; Chae HW; Kim HS; Choi JR; Han S; Kwon A
    Int J Mol Sci; 2023 Feb; 24(4):. PubMed ID: 36834714
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.