170 related articles for article (PubMed ID: 38206718)
21. 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]
22. Spontaneous virilization around puberty in NR5A1-related 46,XY sex reversal: additional case and a literature review.
Adachi M; Hasegawa T; Tanaka Y; Asakura Y; Hanakawa J; Muroya K
Endocr J; 2018 Dec; 65(12):1187-1192. PubMed ID: 30224582
[TBL] [Abstract][Full Text] [Related]
23. MAP3K1-related gonadal dysgenesis: Six new cases and review of the literature.
Granados A; Alaniz VI; Mohnach L; Barseghyan H; Vilain E; Ostrer H; Quint EH; Chen M; Keegan CE
Am J Med Genet C Semin Med Genet; 2017 Jun; 175(2):253-259. PubMed ID: 28504475
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. Characteristic testicular histology is useful for the identification of NR5A1 gene mutations in prepubertal 46,XY patients.
Nishina-Uchida N; Fukuzawa R; Numakura C; Suwanai AS; Hasegawa T; Hasegawa Y
Horm Res Paediatr; 2013; 80(2):119-28. PubMed ID: 23969951
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. 46, XY Disorders of Sexual Development: a case report and theoretical framework.
Brambilla I; Landi E; Guarracino C; Pistone C; Tondina E; Sirchia F; Avolio L; Romano P; Cavaiuolo S; Licari A; Riccipetitoni G
Acta Biomed; 2022 Jun; 93(S3):e2022145. PubMed ID: 35666121
[TBL] [Abstract][Full Text] [Related]
28. Identification of a novel homozygous
Kırkgöz T; Gürsoy S; Acar S; Köprülü Ö; Özkaya B; Arslan G; Nalbantoğlu Ö; Hazan F; Özkan B
J Pediatr Endocrinol Metab; 2024 Jun; 37(6):575-579. PubMed ID: 38650427
[TBL] [Abstract][Full Text] [Related]
29. Familial forms of disorders of sex development may be common if infertility is considered a comorbidity.
Brauner R; Picard-Dieval F; Lottmann H; Rouget S; Bignon-Topalovic J; Bashamboo A; McElreavey K
BMC Pediatr; 2016 Nov; 16(1):195. PubMed ID: 27899089
[TBL] [Abstract][Full Text] [Related]
30. NR5A1 Loss-of-Function Mutations Lead to 46,XY Partial Gonadal Dysgenesis Phenotype: Report of Three Novel Mutations.
Fabbri HC; Ribeiro de Andrade JG; Maciel-Guerra AT; Guerra-Júnior G; de Mello MP
Sex Dev; 2016; 10(4):191-199. PubMed ID: 27463801
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. Novel Heterozygous Mutations of NR5A1 and Their Functional Characteristics in Patients with 46,XY Disorders of Sex Development without Adrenal Insufficiency.
Woo KH; Cheon B; Kim JH; Cho J; Kim GH; Yoo HW; Choi JH
Horm Res Paediatr; 2015; 84(2):116-23. PubMed ID: 26139438
[TBL] [Abstract][Full Text] [Related]
33. Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in the NR5A1 gene: a case study.
Soardi FC; Coeli FB; Maciel-Guerra AT; Guerra-Júnior G; Mello MP
J Appl Genet; 2010; 51(2):223-4. PubMed ID: 20453312
[TBL] [Abstract][Full Text] [Related]
34. Novel Insights into 46,XY Disorders of Sex Development due to NR5A1 Gene Mutation.
Werner R; Mönig I; August J; Freiberg C; Lünstedt R; Reiz B; Wünsch L; Holterhus PM; Kulle A; Döhnert U; Wudy SA; Richter-Unruh A; Thorns C; Hiort O
Sex Dev; 2015; 9(5):260-8. PubMed ID: 26681172
[TBL] [Abstract][Full Text] [Related]
35. A novel c.64G > T (p.G22C) NR5A1 variant in a Chinese adolescent with 46,XY disorders of sex development: a case report.
Zhang D; Wang D; Tong Y; Li M; Meng L; Song Q; Xin Y
BMC Pediatr; 2023 Apr; 23(1):182. PubMed ID: 37072715
[TBL] [Abstract][Full Text] [Related]
36. [Clinical and molecular characteristics of patients with 46,XY DSD due to NR5A1 gene mutations].
Kalinchenko NY; Kolodkina AA; Raygorodskaya NY; Tiulpakov AN
Probl Endokrinol (Mosk); 2020 Sep; 66(3):62-69. PubMed ID: 33351340
[TBL] [Abstract][Full Text] [Related]
37. Anomalies in Human Sex Determination: Usefulness of a Combined Cytogenetic Approach to Characterize an Additional Case with Xp Functional Disomy Associated with 46,XY Gonadal Dysgenesis.
Rjiba K; Slimani W; Gaddas M; Hassine IH; Jelloul A; Khelifa HB; El Amri F; Zaouali M; Mcelreavey K; Saad A; Mougou-Zerelli S
J Clin Res Pediatr Endocrinol; 2023 Feb; 15(1):25-34. PubMed ID: 35984215
[TBL] [Abstract][Full Text] [Related]
38. Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome.
McElreavey K; Jorgensen A; Eozenou C; Merel T; Bignon-Topalovic J; Tan DS; Houzelstein D; Buonocore F; Warr N; Kay RGG; Peycelon M; Siffroi JP; Mazen I; Achermann JC; Shcherbak Y; Leger J; Sallai A; Carel JC; Martinerie L; Le Ru R; Conway GS; Mignot B; Van Maldergem L; Bertalan R; Globa E; Brauner R; Jauch R; Nef S; Greenfield A; Bashamboo A
Genet Med; 2020 Jan; 22(1):150-159. PubMed ID: 31337883
[TBL] [Abstract][Full Text] [Related]
39. [Pure 46,XY gonadal dysgenesis].
Ságodi L; Ladányi E; Kiss Á; Tar A; Lukács V; Minik K; Vámosi I
Orv Hetil; 2010 Nov; 151(48):1991-5. PubMed ID: 21084251
[TBL] [Abstract][Full Text] [Related]
40. Novel mutation of MAP3K1 gene in 46,XY DSD with complete gonadal dysgenesis.
Yu PH; Tsai MC; Chiang CT; Wang HY; Kuo PL
Taiwan J Obstet Gynecol; 2022 Sep; 61(5):903-905. PubMed ID: 36088066
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
