315 related articles for article (PubMed ID: 31338750)
1. The importance of the multiplex ligation-dependent probe amplification in the identification of a novel two-exon deletion of the NR5A1 gene in a patient with 46,XY differences of sex development.
Nagy O; Kárteszi J; Hartwig M; Bertalan R; Jávorszky E; Erhardt É; Patócs A; Tornóczky T; Balogh I; Ujfalusi A
Mol Biol Rep; 2019 Oct; 46(5):5595-5601. PubMed ID: 31338750
[TBL] [Abstract][Full Text] [Related]
2. Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure.
Harrison SM; Campbell IM; Keays M; Granberg CF; Villanueva C; Tannin G; Zinn AR; Castrillon DH; Shaw CA; Stankiewicz P; Baker LA
Am J Med Genet A; 2013 Oct; 161A(10):2487-94. PubMed ID: 23918653
[TBL] [Abstract][Full Text] [Related]
3. Partial deletion of the NR5A1 (SF1) gene detected by synthetic probe MLPA in a patient with XY gonadal disorder of sex development.
Barbaro M; Cools M; Looijenga LH; Drop SL; Wedell A
Sex Dev; 2011; 5(4):181-7. PubMed ID: 21654157
[TBL] [Abstract][Full Text] [Related]
4. Update--steroidogenic factor 1 (SF-1, NR5A1).
Köhler B; Achermann JC
Minerva Endocrinol; 2010 Jun; 35(2):73-86. PubMed ID: 20595937
[TBL] [Abstract][Full Text] [Related]
5. [Genetic analysis of 46,XY disorders of sex development in children caused by a new NR5A1 gene variant].
Gao L; Wang P; Zhang M; Qian Y; Liu N; Xu X; Wang X; Shu J; Lyu L
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Nov; 38(11):1123-1126. PubMed ID: 34729757
[TBL] [Abstract][Full Text] [Related]
6. 46,XY disorder of sex development and developmental delay associated with a novel 9q33.3 microdeletion encompassing NR5A1.
Brandt T; Blanchard L; Desai K; Nimkarn S; Cohen N; Edelmann L; Mehta L
Eur J Med Genet; 2013 Nov; 56(11):619-23. PubMed ID: 24056159
[TBL] [Abstract][Full Text] [Related]
7. Mutational and functional studies on NR5A1 gene in 46,XY disorders of sex development: identification of six novel loss of function mutations.
Rocca MS; Ortolano R; Menabò S; Baronio F; Cassio A; Russo G; Balsamo A; Ferlin A; Baldazzi L
Fertil Steril; 2018 Jun; 109(6):1105-1113. PubMed ID: 29935645
[TBL] [Abstract][Full Text] [Related]
8. NR5A1-related 46,XY partial gonadal dysgenesis: A case report and literature review.
Wei X; Li S; He Y
Medicine (Baltimore); 2023 Dec; 102(52):e36725. PubMed ID: 38206718
[TBL] [Abstract][Full Text] [Related]
9. Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.
Domenice S; Machado AZ; Ferreira FM; Ferraz-de-Souza B; Lerario AM; Lin L; Nishi MY; Gomes NL; da Silva TE; Silva RB; Correa RV; Montenegro LR; Narciso A; Costa EM; Achermann JC; Mendonca BB
Birth Defects Res C Embryo Today; 2016 Dec; 108(4):309-320. PubMed ID: 28033660
[TBL] [Abstract][Full Text] [Related]
10. Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?
Camats N; Fernández-Cancio M; Audí L; Schaller A; Flück CE
Eur J Hum Genet; 2018 Sep; 26(9):1329-1338. PubMed ID: 29891883
[TBL] [Abstract][Full Text] [Related]
11. Mutation update for the NR5A1 gene involved in DSD and infertility.
Fabbri-Scallet H; de Sousa LM; Maciel-Guerra AT; Guerra-Júnior G; de Mello MP
Hum Mutat; 2020 Jan; 41(1):58-68. PubMed ID: 31513305
[TBL] [Abstract][Full Text] [Related]
12. A novel heterozygous mutation of steroidogenic factor-1 (SF-1/Ad4BP) gene (NR5A1) in a 46, XY disorders of sex development (DSD) patient without adrenal failure.
Tajima T; Fujiwara F; Fujieda K
Endocr J; 2009; 56(4):619-24. PubMed ID: 19318730
[TBL] [Abstract][Full Text] [Related]
13. Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations.
Tantawy S; Lin L; Akkurt I; Borck G; Klingmüller D; Hauffa BP; Krude H; Biebermann H; Achermann JC; Köhler B
Eur J Endocrinol; 2012 Jul; 167(1):125-30. PubMed ID: 22474171
[TBL] [Abstract][Full Text] [Related]
14. Novel NR5A1 Pathogenic Variants Cause Phenotypic Heterogeneity in 46,XY Disorders of Sex Development.
Sudhakar DVS; Jaishankar S; Regur P; Kumar U; Singh R; Kabilan U; Namduri S; Dhyani J; Gupta NJ; Chakravarthy B; Vaman K; Shabir I; Khadgawat R; Deenadayal M; Chaitanya A D; Dada R; Sharma Y; Anand A; Thangaraj K
Sex Dev; 2019; 13(4):178-186. PubMed ID: 32008008
[TBL] [Abstract][Full Text] [Related]
15. Next-generation sequencing reveals genetic landscape in 46, XY disorders of sexual development patients with variable phenotypes.
Wang H; Zhang L; Wang N; Zhu H; Han B; Sun F; Yao H; Zhang Q; Zhu W; Cheng T; Cheng K; Liu Y; Zhao S; Song H; Qiao J
Hum Genet; 2018 Mar; 137(3):265-277. PubMed ID: 29582157
[TBL] [Abstract][Full Text] [Related]
16. A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development.
Bashamboo A; Donohoue PA; Vilain E; Rojo S; Calvel P; Seneviratne SN; Buonocore F; Barseghyan H; Bingham N; Rosenfeld JA; Mulukutla SN; Jain M; Burrage L; Dhar S; Balasubramanyam A; Lee B; ; Dumargne MC; Eozenou C; Suntharalingham JP; de Silva K; Lin L; Bignon-Topalovic J; Poulat F; Lagos CF; McElreavey K; Achermann JC
Hum Mol Genet; 2016 Aug; 25(16):3446-3453. PubMed ID: 27378692
[TBL] [Abstract][Full Text] [Related]
17. Longitudinal hormonal evaluation in a patient with disorder of sexual development, 46,XY karyotype and one NR5A1 mutation.
Pedace L; Laino L; Preziosi N; Valentini MS; Scommegna S; Rapone AM; Guarino N; Boscherini B; De Bernardo C; Marrocco G; Majore S; Grammatico P
Am J Med Genet A; 2014 Nov; 164A(11):2938-46. PubMed ID: 25160005
[TBL] [Abstract][Full Text] [Related]
18. Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias.
Allali S; Muller JB; Brauner R; Lourenço D; Boudjenah R; Karageorgou V; Trivin C; Lottmann H; Lortat-Jacob S; Nihoul-Fékété C; De Dreuzy O; McElreavey K; Bashamboo A
PLoS One; 2011; 6(10):e24117. PubMed ID: 22028768
[TBL] [Abstract][Full Text] [Related]
19. Identification and functional analysis of fourteen NR5A1 variants in patients with the 46 XY disorders of sex development.
Na X; Mao Y; Tang Y; Jiang W; Yu J; Cao L; Yang J
Gene; 2020 Nov; 760():145004. PubMed ID: 32738419
[TBL] [Abstract][Full Text] [Related]
20. The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency.
Fabbri HC; de Andrade JG; Soardi FC; de Calais FL; Petroli RJ; Maciel-Guerra AT; Guerra-Júnior G; de Mello MP
BMC Med Genet; 2014 Jan; 15():7. PubMed ID: 24405868
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
