BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

146 related articles for article (PubMed ID: 32567554)

  • 1. Homozygous p.Val89Leu plays an important pathogenic role in 5α-reductase type 2 deficiency patients with homozygous p.Arg246Gln in SRD5A2.
    Arya S; Tiwari A; Lila AR; Sarathi V; Bhandare VV; Kumbhar BV; Rai K; Kunwar A; Thakkar H; Thakkar K; Memon SS; Patil V; Khadilkar K; Jadhav SS; Shah NS; Bandgar T
    Eur J Endocrinol; 2020 Sep; 183(3):275-284. PubMed ID: 32567554
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. New mutations, hotspots, and founder effects in Brazilian patients with steroid 5alpha-reductase deficiency type 2.
    Hackel C; Oliveira LE; Ferraz LF; Tonini MM; Silva DN; Toralles MB; Stuchi-Perez EG; Guerra-Junior G
    J Mol Med (Berl); 2005 Jul; 83(7):569-76. PubMed ID: 15770495
    [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. Genetic analysis of the SRD5A2 gene in Indian patients with 5alpha-reductase deficiency.
    Sahu R; Boddula R; Sharma P; Bhatia V; Greaves R; Rao S; Desai M; Wakhlu A; Phadke S; Shukla M; Dabadghao P; Mehrotra RN; Bhatia E
    J Pediatr Endocrinol Metab; 2009 Mar; 22(3):247-54. PubMed ID: 19492581
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Novel compound heterozygous mutations in the SRD5A2 gene from 46,XY infants with ambiguous external genitalia.
    Vilchis F; Valdez E; Ramos L; García R; Gómez R; Chávez B
    J Hum Genet; 2008; 53(5):401-406. PubMed ID: 18350250
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

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

  • 13. 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]  

  • 14. 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; 33(6):841-7. PubMed ID: 20132346
    [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. Homozygous Ala65Pro Mutation with V89L Polymorphism in SRD5A2 Deficiency.
    Eren E; Edgünlü T; Asut E; Karakaş Çelik S
    J Clin Res Pediatr Endocrinol; 2016 Jun; 8(2):218-23. PubMed ID: 26761946
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Identification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiency.
    Vilchis F; Méndez JP; Canto P; Lieberman E; Chávez B
    Clin Endocrinol (Oxf); 2000 Mar; 52(3):383-7. PubMed ID: 10718838
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. A novel mutation of 5alpha-steroid reductase 2 deficiency (CD 65 ALA-PRO) with severe virilization defect in a Turkish family and difficulty in gender assignment.
    Savas Erdeve S; Aycan Z; Berberoglu M; Siklar Z; Hacihamdioglu B; Sipahi K; Akar N; Ocal G
    Eur J Pediatr; 2010 Aug; 169(8):991-5. PubMed ID: 20179965
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The identification of 5 alpha-reductase-2 and 17 beta-hydroxysteroid dehydrogenase-3 gene defects in male pseudohermaphrodites from a Turkish kindred.
    Can S; Zhu YS; Cai LQ; Ling Q; Katz MD; Akgun S; Shackleton CH; Imperato-McGinley J
    J Clin Endocrinol Metab; 1998 Feb; 83(2):560-9. PubMed ID: 9467575
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.