These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

190 related articles for article (PubMed ID: 23664981)

  • 1. Ambiguous external genitalia due to defect of 5-α-reductase in seven Iraqi patients: prevalence of a novel mutation.
    Di Marco C; Bulotta AL; Varetti C; Dosa L; Michelucci A; Baldinotti F; Meucci D; Castagnini C; Lo Rizzo C; Di Maggio G; Simi P; Mari F; Bertelloni S; Renieri A; Messina M
    Gene; 2013 Sep; 526(2):490-3. PubMed ID: 23664981
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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; 30(1):19-26. PubMed ID: 27849622
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. Molecular analysis of 5alpha-reductase type 2 gene in eight unrelated egyptian children with suspected 5alpha-reductase deficiency: prevalence of the G34R mutation.
    Mazen I; Gad YZ; Hafez M; Sultan C; Lumbroso S
    Clin Endocrinol (Oxf); 2003 May; 58(5):627-31. PubMed ID: 12699446
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Etiological diagnosis of undervirilized male/XY disorder of sex development.
    Atta I; Ibrahim M; Parkash A; Lone SW; Khan YN; Raza J
    J Coll Physicians Surg Pak; 2014 Oct; 24(10):714-8. PubMed ID: 25327912
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel SRD5A2 mutation in a Taiwanese newborn with ambiguous genitalia.
    Tsai MC; Chou YY; Lin SJ; Tsai LP
    Kaohsiung J Med Sci; 2012 Apr; 28(4):231-5. PubMed ID: 22453073
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 46,XY disorder of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency.
    Mendonca BB; Gomes NL; Costa EM; Inacio M; Martin RM; Nishi MY; Carvalho FM; Tibor FD; Domenice S
    J Steroid Biochem Mol Biol; 2017 Jan; 165(Pt A):79-85. PubMed ID: 27163392
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Molecular genetics of disorders of sex development in a highly consanguineous population.
    Alswailem M; Alsagheir A; Abbas BB; Alzahrani O; Alzahrani AS
    J Steroid Biochem Mol Biol; 2021 Apr; 208():105736. PubMed ID: 32784047
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. A novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish family.
    Bahceci M; Ersay AR; Tuzcu A; Hiort O; Richter-Unruh A; Gokalp D
    Urology; 2005 Aug; 66(2):407-10. PubMed ID: 16098368
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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
    [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. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 10.