Similar articles for PMID: 23157850

Year	Number of Results
1980	1
1987	1
1992	1
1993	2
1995	2
1996	4
1998	3
1999	3
2000	6
2001	1
2002	3
2003	3
2004	5
2005	6
2006	3
2007	6
2008	3
2009	7
2010	5
2011	9
2012	11
2013	19
2014	18
2015	7
2016	14
2017	8
2018	13
2019	13
2020	11
2021	32
2022	45
2023	23
2024	0

1

SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype.

Hersmus R, Stoop H, Turbitt E, Oosterhuis JW, Drop SL, Sinclair AH, White SJ, Looijenga LH. Hersmus R, et al. BMC Med Genet. 2012 Nov 16;13:108. doi: 10.1186/1471-2350-13-108. BMC Med Genet. 2012. PMID: 23157850 Free PMC article.

2

Gonadoblastoma Y locus genes expressed in germ cells of individuals with dysgenetic gonads and a Y chromosome in their karyotypes include DDX3Y and TSPY.

Vogt PH, Besikoglu B, Bettendorf M, Frank-Herrmann P, Zimmer J, Bender U, Knauer-Fischer S, Choukair D, Sinn P, Lau YC, Heidemann PH, Strowitzki T. Vogt PH, et al. Hum Reprod. 2019 Apr 1;34(4):770-779. doi: 10.1093/humrep/dez004. Hum Reprod. 2019. PMID: 30753444

3

A SRY-HMG box frame shift mutation inherited from a mosaic father with a mild form of testicular dysgenesis syndrome in Turner syndrome patient.

Shahid M, Dhillon VS, Khalil HS, Haque S, Batra S, Husain SA, Looijenga LH. Shahid M, et al. BMC Med Genet. 2010 Sep 19;11:131. doi: 10.1186/1471-2350-11-131. BMC Med Genet. 2010. PMID: 20849656 Free PMC article.

4

The role of SRY mutations in the etiology of gonadal dysgenesis in patients with 45,X/46,XY disorder of sex development and variants.

Nishi MY, Costa EM, Oliveira SB, Mendonca BB, Domenice S. Nishi MY, et al. Horm Res Paediatr. 2011;75(1):26-31. doi: 10.1159/000316536. Epub 2010 Aug 12. Horm Res Paediatr. 2011. PMID: 20699606

5

Gonadoblastoma in patients with Ullrich-Turner syndrome.

Zelaya G, López Marti JM, Marino R, Garcia de Dávila MT, Gallego MS. Zelaya G, et al. Pediatr Dev Pathol. 2015 Mar-Apr;18(2):117-21. doi: 10.2350/14-08-1539-OA.1. Epub 2014 Dec 23. Pediatr Dev Pathol. 2015. PMID: 25535833

6

Y chromosome sequences in Turner's syndrome: association with virilization and gonadoblastoma.

Mancilla EE, Poggi H, Repetto G, Rumié H, García H, Ugarte F, Hidalgo S, Jara A, Muzzo S, Panteón E, Torrealba I, Foradori A, Cattani A. Mancilla EE, et al. J Pediatr Endocrinol Metab. 2003 Oct-Nov;16(8):1157-63. doi: 10.1515/jpem.2003.16.8.1157. J Pediatr Endocrinol Metab. 2003. PMID: 14594176

7

A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation.

Hersmus R, van der Zwan YG, Stoop H, Bernard P, Sreenivasan R, Oosterhuis JW, Brüggenwirth HT, de Boer S, White S, Wolffenbuttel KP, Alders M, McElreavy K, Drop SL, Harley VR, Looijenga LH. Hersmus R, et al. PLoS One. 2012;7(7):e40858. doi: 10.1371/journal.pone.0040858. Epub 2012 Jul 18. PLoS One. 2012. PMID: 22815844 Free PMC article.

8

Normal female phenotype and ovarian development despite the ovarian expression of the sex-determining region of Y chromosome (SRY) in a 46,XX/69,XXY diploid/triploid mosaic child conceived after in vitro fertilization-intracytoplasmic sperm injection.

Oktem O, Paduch DA, Xu K, Mielnik A, Oktay K. Oktem O, et al. J Clin Endocrinol Metab. 2007 Mar;92(3):1008-14. doi: 10.1210/jc.2006-1963. Epub 2006 Dec 12. J Clin Endocrinol Metab. 2007. PMID: 17164312

9

A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastoma.

Hersmus R, de Leeuw BH, Stoop H, Bernard P, van Doorn HC, Brüggenwirth HT, Drop SL, Oosterhuis JW, Harley VR, Looijenga LH. Hersmus R, et al. Eur J Hum Genet. 2009 Dec;17(12):1642-9. doi: 10.1038/ejhg.2009.96. Epub 2009 Jun 10. Eur J Hum Genet. 2009. PMID: 19513096 Free PMC article.

10

SRY-Positive 46, XX Testicular Disorder of Sexual Development With Leydig Cell Tumor.

Osaka A, Ide H, Matsuoka K, Iwahata T, Kobori Y, Ban S, Okada H, Saito K. Osaka A, et al. Am J Mens Health. 2020 Sep-Oct;14(5):1557988320970071. doi: 10.1177/1557988320970071. Am J Mens Health. 2020. PMID: 33131361 Free PMC article.

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