157 related articles for article (PubMed ID: 21714467)
21. 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]
22. 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]
23. 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]
24. Mutational analysis of SRD5A2: From gene to functional kinetics in individuals with steroid 5α-reductase 2 deficiency.
Ramos L; Vilchis F; Chávez B; Mares L
J Steroid Biochem Mol Biol; 2020 Jun; 200():105691. PubMed ID: 32380235
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. 5α-Reductase type 2 deficiency in families from an isolated Andean population in Venezuela.
Avendaño A; González-Coira M; Paradisi I; Rojas A; Da Silva G; Gómez-Pérez R; Ceballos JO
Ann Hum Genet; 2020 Mar; 84(2):151-160. PubMed ID: 31613402
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. Clinical and genetic analysis of three Chinese patients with steroid 5α-reductase type 2 deficiency.
Yang Y; Wang BA; Guo QH; Dou JT; Lv ZH; Ba JM; Lu JM; Pan CY; Mu YM
J Pediatr Endocrinol Metab; 2012; 25(11-12):1077-82. PubMed ID: 23329752
[TBL] [Abstract][Full Text] [Related]
29. 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
[No Abstract] [Full Text] [Related]
30. Mutational analysis of compound heterozygous mutation p.Q6X/p.H232R in SRD5A2 causing 46,XY disorder of sex development.
Li L; Zhang J; Li Q; Qiao L; Li P; Cui Y; Li S; Hao S; Wu T; Liu L; Yin J; Hu P; Dou X; Li S; Yang H
Ital J Pediatr; 2022 Mar; 48(1):47. PubMed ID: 35331321
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. 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]
33. Novel nucleotide insertions in two unrelated Indian patients with 5α reductase 2 deficiency leading to premature termination of SRD5A2 enzyme.
Shabir I; Khurana ML; Marumudi E; Khadgawat R; Ammini AC
Steroids; 2013 Dec; 78(12-13):1159-63. PubMed ID: 24012728
[TBL] [Abstract][Full Text] [Related]
34. Diagnosis of 5α-reductase 2 deficiency: is measurement of dihydrotestosterone essential?
Chan AO; But BW; Lee CY; Lam YY; Ng KL; Tung JY; Kwan EY; Chan YK; Tsui TK; Lam AL; Tse WY; Cheung PT; Shek CC
Clin Chem; 2013 May; 59(5):798-806. PubMed ID: 23513070
[TBL] [Abstract][Full Text] [Related]
35. [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]
36. 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]
37. 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]
38. Molecular diagnosis of 5α-reductase deficiency in 4 elite young female athletes through hormonal screening for hyperandrogenism.
Fénichel P; Paris F; Philibert P; Hiéronimus S; Gaspari L; Kurzenne JY; Chevallier P; Bermon S; Chevalier N; Sultan C
J Clin Endocrinol Metab; 2013 Jun; 98(6):E1055-9. PubMed ID: 23633205
[TBL] [Abstract][Full Text] [Related]
39. 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]
40. 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]
[Previous] [Next] [New Search]