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Journal Abstract Search

396 related items for PubMed ID: 27849622

  • 21. Phenotypic variation in a family with partial androgen insensitivity syndrome explained by differences in 5alpha dihydrotestosterone availability.
    Boehmer AL, Brinkmann AO, Nijman RM, Verleun-Mooijman MC, de Ruiter P, Niermeijer MF, Drop SL.
    J Clin Endocrinol Metab; 2001 Mar; 86(3):1240-6. PubMed ID: 11238515
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  • 23. Androgen insensitivity syndrome in a cohort of Sri Lankan children with 46, XY disorders of sex development (46, XY DSD).
    de Silva KS, Sirisena ND, Wijenayaka HK, Cooray JG, Jayasekara RW, Dissanayake VH.
    Ceylon Med J; 2015 Dec; 60(4):139-42. PubMed ID: 26778393
    [Abstract] [Full Text] [Related]

  • 24. 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
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  • 25. 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
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  • 27. Novel Deleterious Mutation in Steroid-5α-Reductase-2 in 46, XY Disorders of Sex Development: Case Report Study.
    Rafigh M, Salmaninejad A, Sorouri Khorashad B, Arabi A, Milanizadeh S, Hiradfar M, Abbaszadegan MR.
    Fetal Pediatr Pathol; 2022 Feb; 41(1):141-148. PubMed ID: 32449406
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  • 29. 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 Feb; 74(1):67-71. PubMed ID: 20395661
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  • 31. Mutation analysis of the SRD5A2, AR and SF-1 genes in 52 Chinese boys with hypospadias.
    Wang R, Dong Z, Wang W, Xiao Y, Ni J, Wang D.
    J Pediatr Endocrinol Metab; 2013 Feb; 26(9-10):887-93. PubMed ID: 23729601
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  • 32. New Territory for an Old Disease: 5-Alpha-Reductase Type 2 Deficiency in Bulgaria.
    Andonova S, Robeva R, Vazharova R, Ledig S, Grozdanova L, Stefanova E, Bradinova I, Todorov T, Hadjidekov G, Sirakov M, Wieacker P, Kumanov P, Savov A.
    Sex Dev; 2017 Feb; 11(1):21-28. PubMed ID: 28110336
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  • 33. 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 10; 526(2):490-3. PubMed ID: 23664981
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  • 34. 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 10; 24(10):714-8. PubMed ID: 25327912
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  • 35. 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 10; 83(4):518-26. PubMed ID: 25899528
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  • 36. 5α-reduction of epitestosterone is catalysed by human SRD5A1 and SRD5A2 and increases androgen receptor transactivation.
    Schiffer L, Arlt W, Storbeck KH.
    J Steroid Biochem Mol Biol; 2024 Jul 10; 241():106516. PubMed ID: 38582131
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  • 37. Screening of MAMLD1 mutations in 70 children with 46,XY DSD: identification and functional analysis of two new mutations.
    Kalfa N, Fukami M, Philibert P, Audran F, Pienkowski C, Weill J, Pinto G, Manouvrier S, Polak M, Ogata T, Sultan C.
    PLoS One; 2012 Jul 10; 7(3):e32505. PubMed ID: 22479329
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  • 38. 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 Jul 10; 53(5):401-406. PubMed ID: 18350250
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  • 39. 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 10; 208():105736. PubMed ID: 32784047
    [Abstract] [Full Text] [Related]

  • 40. Diagnostic accuracy of human chorionic gonadotropins (HCG) stimulation test in XY-disorders of sex development (XY-DSD) presented in Armed Forces Institute of Pathology.
    Sheikh WH, Asif N, Haroon ZH, Ejaz A, Ain QU, Shehzad N.
    J Pak Med Assoc; 2019 Aug 10; 69(8):1090-1093. PubMed ID: 31431758
    [Abstract] [Full Text] [Related]

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