246 related articles for article (PubMed ID: 17504899)
1. 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]
2. Gene dosage imbalances in patients with 46,XY gonadal DSD detected by an in-house-designed synthetic probe set for multiplex ligation-dependent probe amplification analysis.
Barbaro M; Cicognani A; Balsamo A; Löfgren A; Baldazzi L; Wedell A; Oscarson M
Clin Genet; 2008 May; 73(5):453-64. PubMed ID: 18384427
[TBL] [Abstract][Full Text] [Related]
3. A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without
Francese-Santos AP; Meinel JA; Piveta CSC; Andrade JGR; Barros BA; Fabbri-Scallet H; Gil-da-Silva-Lopes VL; Guerra-Junior G; Künstner A; Busch H; Hiort O; de Mello MP; Werner R; Maciel-Guerra AT
Int J Mol Sci; 2022 Dec; 24(1):. PubMed ID: 36613932
[TBL] [Abstract][Full Text] [Related]
4. Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1).
Smyk M; Berg JS; Pursley A; Curtis FK; Fernandez BA; Bien-Willner GA; Lupski JR; Cheung SW; Stankiewicz P
Hum Genet; 2007 Aug; 122(1):63-70. PubMed ID: 17503084
[TBL] [Abstract][Full Text] [Related]
5. Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis.
Barbaro M; Cook J; Lagerstedt-Robinson K; Wedell A
Int J Endocrinol; 2012; 2012():504904. PubMed ID: 22518125
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Expanding the phenotype of copy number variations involving NR0B1 (DAX1).
Veyt N; Van Buggenhout G; Devriendt K; Van Den Bogaert K; Brison N
Eur J Hum Genet; 2024 Apr; 32(4):421-425. PubMed ID: 38200083
[TBL] [Abstract][Full Text] [Related]
8. A Small Supernumerary Xp Marker Chromosome Including Genes NR0B1 and MAGEB Causing Partial Gonadal Dysgenesis and Gonadoblastoma.
Nishi MY; Faria Júnior JAD; Krepischi ACV; de Moraes DR; da Costa SS; Silva ESDN; Costa EMF; Mendonca BB; Domenice S
Sex Dev; 2022; 16(1):55-63. PubMed ID: 34510040
[TBL] [Abstract][Full Text] [Related]
9. Gene dosage of DAX-1, determining in sexual differentiation: duplication of DAX-1 in two sisters with gonadal dysgenesis.
García-Acero M; Molina M; Moreno O; Ramirez A; Forero C; Céspedes C; Prieto JC; Pérez J; Suárez-Obando F; Rojas A
Mol Biol Rep; 2019 Jun; 46(3):2971-2978. PubMed ID: 30879272
[TBL] [Abstract][Full Text] [Related]
10. [Genetic analysis of a 46,XY female with sex reversal due to duplication of NR0B1 gene].
Qin S; Wang X; Li Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Dec; 35(6):804-807. PubMed ID: 30512150
[TBL] [Abstract][Full Text] [Related]
11. NR0B1A: an alternatively spliced form of NR0B1.
Ho J; Zhang YH; Huang BL; McCabe ER
Mol Genet Metab; 2004 Dec; 83(4):330-6. PubMed ID: 15589120
[TBL] [Abstract][Full Text] [Related]
12. X-linked congenital adrenal hypoplasia with hypogonadotropic hypogonadism caused by an inversion disrupting a conserved noncoding element upstream of the NR0B1 (DAX1) gene.
Skinningsrud B; Husebye ES; Gilfillan GD; Frengen E; Erichsen A; Gervin K; Ormerod E; Egeland T; Undlien DE
J Clin Endocrinol Metab; 2009 Oct; 94(10):4086-93. PubMed ID: 19773398
[TBL] [Abstract][Full Text] [Related]
13. Testis determination in mammals: more questions than answers.
Veitia RA; Salas-Cortés L; Ottolenghi C; Pailhoux E; Cotinot C; Fellous M
Mol Cell Endocrinol; 2001 Jun; 179(1-2):3-16. PubMed ID: 11420125
[TBL] [Abstract][Full Text] [Related]
14. Duplication of dosage sensitive sex reversal area in a 46, XY patient with normal sex determining region of Y causing complete sex reversal.
Sukumaran A; Desmangles JC; Gartner LA; Buchlis J
J Pediatr Endocrinol Metab; 2013; 26(7-8):775-9. PubMed ID: 23612644
[TBL] [Abstract][Full Text] [Related]
15. Novel candidate genes for 46,XY gonadal dysgenesis identified by a customized 1 M array-CGH platform.
Norling A; Lindén Hirschberg A; Iwarsson E; Persson B; Wedell A; Barbaro M
Eur J Med Genet; 2013 Dec; 56(12):661-8. PubMed ID: 24055526
[TBL] [Abstract][Full Text] [Related]
16. Disruption of the topologically associated domain at Xp21.2 is related to 46,XY gonadal dysgenesis.
Meinel JA; Yumiceba V; Künstner A; Schultz K; Kruse N; Kaiser FJ; Holterhus PM; Claviez A; Hiort O; Busch H; Spielmann M; Werner R
J Med Genet; 2023 May; 60(5):469-476. PubMed ID: 36227713
[TBL] [Abstract][Full Text] [Related]
17. Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience.
Lin L; Gu WX; Ozisik G; To WS; Owen CJ; Jameson JL; Achermann JC
J Clin Endocrinol Metab; 2006 Aug; 91(8):3048-54. PubMed ID: 16684822
[TBL] [Abstract][Full Text] [Related]
18. Functional disomy of Xp including duplication of DAX1 gene with sex reversal due to t(X;Y)(p21.2;p11.3).
Sanlaville D; Vialard F; Thépot F; Vue-Droy L; Ardalan A; Nizard P; Corré A; Devauchelle B; Martin-Denavit T; Nouchy M; Malan V; Taillemite JL; Portnoï MF
Am J Med Genet A; 2004 Jul; 128A(3):325-30. PubMed ID: 15216557
[TBL] [Abstract][Full Text] [Related]
19. XX Maleness and XX true hermaphroditism in SRY-negative monozygotic twins: additional evidence for a common origin.
Maciel-Guerra AT; de Mello MP; Coeli FB; Ribeiro ML; Miranda ML; Marques-de-Faria AP; Baptista MT; Moraes SG; Guerra-Júnior G
J Clin Endocrinol Metab; 2008 Feb; 93(2):339-43. PubMed ID: 18056774
[TBL] [Abstract][Full Text] [Related]
20. Sex determination: a 'window' of DAX1 activity.
Ludbrook LM; Harley VR
Trends Endocrinol Metab; 2004 Apr; 15(3):116-21. PubMed ID: 15046740
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
