Similar articles for PMID: 12428212

Year	Number of Results
1993	1
1994	1
1997	2
1998	4
1999	1
2000	4
2001	1
2002	4
2003	13
2004	8
2005	14
2006	6
2007	14
2008	6
2009	3
2010	4
2011	6
2012	1
2013	1
2014	3
2015	2
2016	1
2017	1
2018	3
2019	2
2020	2
2021	1
2022	1
2024	0

1

Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency.

Laumonnier F, Ronce N, Hamel BC, Thomas P, Lespinasse J, Raynaud M, Paringaux C, Van Bokhoven H, Kalscheuer V, Fryns JP, Chelly J, Moraine C, Briault S. Laumonnier F, et al. Am J Hum Genet. 2002 Dec;71(6):1450-5. doi: 10.1086/344661. Epub 2002 Nov 8. Am J Hum Genet. 2002. PMID: 12428212 Free PMC article.

2

Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3.

Solomon NM, Ross SA, Morgan T, Belsky JL, Hol FA, Karnes PS, Hopwood NJ, Myers SE, Tan AS, Warne GL, Forrest SM, Thomas PQ. Solomon NM, et al. J Med Genet. 2004 Sep;41(9):669-78. doi: 10.1136/jmg.2003.016949. J Med Genet. 2004. PMID: 15342697 Free PMC article.

3

Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism.

Woods KS, Cundall M, Turton J, Rizotti K, Mehta A, Palmer R, Wong J, Chong WK, Al-Zyoud M, El-Ali M, Otonkoski T, Martinez-Barbera JP, Thomas PQ, Robinson IC, Lovell-Badge R, Woodward KJ, Dattani MT. Woods KS, et al. Am J Hum Genet. 2005 May;76(5):833-49. doi: 10.1086/430134. Epub 2005 Mar 30. Am J Hum Genet. 2005. PMID: 15800844 Free PMC article.

4

An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism.

Bowl MR, Nesbit MA, Harding B, Levy E, Jefferson A, Volpi E, Rizzoti K, Lovell-Badge R, Schlessinger D, Whyte MP, Thakker RV. Bowl MR, et al. J Clin Invest. 2005 Oct;115(10):2822-31. doi: 10.1172/JCI24156. Epub 2005 Sep 15. J Clin Invest. 2005. PMID: 16167084 Free PMC article.

5

Duplication of Xq26.2-q27.1, including SOX3, in a mother and daughter with short stature and dyslalia.

Stankiewicz P, Thiele H, Schlicker M, Cseke-Friedrich A, Bartel-Friedrich S, Yatsenko SA, Lupski JR, Hansmann I. Stankiewicz P, et al. Am J Med Genet A. 2005 Sep 15;138(1):11-7. doi: 10.1002/ajmg.a.30910. Am J Med Genet A. 2005. PMID: 16097007

6

SOX3 is an X-linked gene related to SRY.

Stevanović M, Lovell-Badge R, Collignon J, Goodfellow PN. Stevanović M, et al. Hum Mol Genet. 1993 Dec;2(12):2013-8. doi: 10.1093/hmg/2.12.2013. Hum Mol Genet. 1993. PMID: 8111369

7

A complex phenotype in a family with a pathogenic SOX3 missense variant.

Jelsig AM, Diness BR, Kreiborg S, Main KM, Larsen VA, Hove H. Jelsig AM, et al. Eur J Med Genet. 2018 Mar;61(3):168-172. doi: 10.1016/j.ejmg.2017.11.012. Epub 2017 Nov 24. Eur J Med Genet. 2018. PMID: 29175558

8

Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes.

Bleyl SB, Byrne JL, South ST, Dries DC, Stevenson DA, Rope AF, Vianna-Morgante AM, Schoenwolf GC, Kivlin JD, Brothman A, Carey JC. Bleyl SB, et al. Am J Med Genet A. 2007 Dec 1;143A(23):2785-95. doi: 10.1002/ajmg.a.32036. Am J Med Genet A. 2007. PMID: 17994562

9

Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation.

Shoichet SA, Hoffmann K, Menzel C, Trautmann U, Moser B, Hoeltzenbein M, Echenne B, Partington M, Van Bokhoven H, Moraine C, Fryns JP, Chelly J, Rott HD, Ropers HH, Kalscheuer VM. Shoichet SA, et al. Am J Hum Genet. 2003 Dec;73(6):1341-54. doi: 10.1086/380309. Epub 2003 Nov 18. Am J Hum Genet. 2003. PMID: 14628291 Free PMC article.

10

Polyalanine expansion mutations in the X-linked hypopituitarism gene SOX3 result in aggresome formation and impaired transactivation.

Wong J, Farlie P, Holbert S, Lockhart P, Thomas PQ. Wong J, et al. Front Biosci. 2007 Jan 1;12:2085-95. doi: 10.2741/2213. Front Biosci. 2007. PMID: 17127446

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