129 related articles for article (PubMed ID: 38447543)
1. Mutations in STARD8 (DLC3) may cause 46,XY gonadal dysgenesis.
Sirokha D; Rayevsky A; Gorodna O; Kalynovskyi V; Zelinska N; Samson O; Kwiatkowska K; Nef S; Jaruzelska J; Kusz-Zamelczyk K; Livshits L
Sex Dev; 2024 Mar; ():. PubMed ID: 38447543
[TBL] [Abstract][Full Text] [Related]
2. A Case of Two Sisters Suffering from 46,XY Gonadal Dysgenesis and Carrying a Mutation of a Novel Candidate Sex-Determining Gene STARD8 on the X Chromosome.
Ilaslan E; Calvel P; Nowak D; Szarras-Czapnik M; Slowikowska-Hilczer J; Spik A; Sararols P; Nef S; Jaruzelska J; Kusz-Zamelczyk K
Sex Dev; 2018; 12(4):191-195. PubMed ID: 29886504
[TBL] [Abstract][Full Text] [Related]
3. Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene.
Barbaro M; Oscarson M; Schoumans J; Staaf J; Ivarsson SA; Wedell A
J Clin Endocrinol Metab; 2007 Aug; 92(8):3305-13. PubMed ID: 17504899
[TBL] [Abstract][Full Text] [Related]
4. Clinical and pathologic spectrum of 46,XY gonadal dysgenesis: its relevance to the understanding of sex differentiation.
Berkovitz GD; Fechner PY; Zacur HW; Rock JA; Snyder HM; Migeon CJ; Perlman EJ
Medicine (Baltimore); 1991 Nov; 70(6):375-83. PubMed ID: 1956279
[TBL] [Abstract][Full Text] [Related]
5. Loss of sequences 3' to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination.
McElreavey K; Vilain E; Barbaux S; Fuqua JS; Fechner PY; Souleyreau N; Doco-Fenzy M; Gabriel R; Quereux C; Fellous M; Berkovitz GD
Proc Natl Acad Sci U S A; 1996 Aug; 93(16):8590-4. PubMed ID: 8710915
[TBL] [Abstract][Full Text] [Related]
6. Clinical heterogeneity in children with gonadal dysgenesis associated with non-mosaic 46,XY karyotype.
Wong YS; Tam YH; Pang KKY; To KF; Chan SSC; Chan KW; Lee KH
J Pediatr Urol; 2017 Oct; 13(5):508.e1-508.e6. PubMed ID: 28434637
[TBL] [Abstract][Full Text] [Related]
7. A conserved function of Human DLC3 and
Sotillos S; von der Decken I; Domenech Mercadé I; Srinivasan S; Sirokha D; Livshits L; Vanni S; Nef S; Biason-Lauber A; Rodríguez Gutiérrez D; Castelli-Gair Hombría J
Elife; 2022 Nov; 11():. PubMed ID: 36326091
[TBL] [Abstract][Full Text] [Related]
8. Report of a kindred with X-linked (or autosomal dominant sex-limited) 46,XY partial gonadal dysgenesis.
Fechner PY; Marcantonio SM; Ogata T; Rosales TO; Smith KD; Goodfellow PN; Migeon CJ; Berkovitz GD
J Clin Endocrinol Metab; 1993 May; 76(5):1248-53. PubMed ID: 8496317
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Mutations in SRY and WT1 genes required for gonadal development are not responsible for XY partial gonadal dysgenesis.
Tagliarini EB; Assumpção JG; Scolfaro MR; Mello MP; Maciel-Guerra AT; Guerra Júnior G; Hackel C
Braz J Med Biol Res; 2005 Jan; 38(1):17-25. PubMed ID: 15665984
[TBL] [Abstract][Full Text] [Related]
11. The clinical and genetic heterogeneity of mixed gonadal dysgenesis: does "disorders of sexual development (DSD)" classification based on new Chicago consensus cover all sex chromosome DSD?
Ocal G; Berberoğlu M; Sıklar Z; Ruhi HI; Tükün A; Camtosun E; Savaş Erdeve S; Hacıhamdioğlu B; Fitöz S
Eur J Pediatr; 2012 Oct; 171(10):1497-502. PubMed ID: 22644991
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. A case report of 46,XY partial gonadal dysgenesis caused by a novel mutation in the sex-determining region gene.
Xu K; Su N; Zhang H; Zhu J; Cheng X
Transl Pediatr; 2020 Dec; 9(6):867-872. PubMed ID: 33457310
[TBL] [Abstract][Full Text] [Related]
14. Expanding the spectrum of syndromic PPP2R3C-related XY gonadal dysgenesis to XX gonadal dysgenesis.
Altunoglu U; Börklü E; Shukla A; Escande-Beillard N; Ledig S; Azaklı H; Nayak SS; Eraslan S; Girisha KM; Kennerknecht I; Kayserili H
Clin Genet; 2022 Feb; 101(2):221-232. PubMed ID: 34750818
[TBL] [Abstract][Full Text] [Related]
15. Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants.
dos Santos AP; Andrade JG; Piveta CS; de Paulo J; Guerra G; de Mello MP; Maciel-Guerra AT
BMC Med Genet; 2013 Nov; 14():115. PubMed ID: 24192396
[TBL] [Abstract][Full Text] [Related]
16. Clinical Findings and Follow-Up of 46,XY and 45,X/46,XY Testicular Dysgenesis.
Andrade JGR; Fabbri-Scallet H; Dos Santos AP; Cools M; Werner R; Hiort O; de Mello MP; Guerra-Júnior G; Maciel-Guerra AT
Sex Dev; 2019; 13(4):171-177. PubMed ID: 31816618
[TBL] [Abstract][Full Text] [Related]
17. Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations.
Scherer G; Held M; Erdel M; Meschede D; Horst J; Lesniewicz R; Midro AT
Cytogenet Cell Genet; 1998; 80(1-4):188-92. PubMed ID: 9678356
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. [XY type gonadal dysgenesis, trisomy X and variants].
Kikuchi I; Takeuchi H; Kinoshita K
Nihon Rinsho; 2004 Feb; 62(2):309-12. PubMed ID: 14968537
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
