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Items: 1 to 20 of 83

1.

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, Forrest SM, Thomas PQ, Morgan T, Belsky JL, Hol FA, Karnes PS, Hopwood NJ, Myers SE, Tan AS, Warne GL.

J Med Genet. 2007 Apr;44(4):e75. No abstract available.

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.

J Med Genet. 2004 Sep;41(9):669-78.

3.

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.

Front Biosci. 2007 Jan 1;12:2085-95.

PMID:
17127446
4.

High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation.

Veltman JA, Yntema HG, Lugtenberg D, Arts H, Briault S, Huys EH, Osoegawa K, de Jong P, Brunner HG, Geurts van Kessel A, van Bokhoven H, Schoenmakers EF.

J Med Genet. 2004 Jun;41(6):425-32. No abstract available.

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.

Am J Med Genet A. 2005 Sep 15;138(1):11-7.

PMID:
16097007
6.

A family with X-linked anophthalmia: exclusion of SOX3 as a candidate gene.

Slavotinek A, Lee SS, Hamilton SP.

Am J Med Genet A. 2005 Oct 1;138A(2):89-94. Review.

PMID:
16114045
7.

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.

Am J Hum Genet. 2005 May;76(5):833-49. Epub 2005 Mar 30.

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.

Am J Med Genet A. 2007 Dec 1;143A(23):2785-95.

PMID:
17994562
9.

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.

J Clin Invest. 2005 Oct;115(10):2822-31. Epub 2005 Sep 15.

10.

Functional characterization of the human SOX3 promoter: identification of transcription factors implicated in basal promoter activity.

Kovacevic Grujicic N, Mojsin M, Krstic A, Stevanovic M.

Gene. 2005 Jan 3;344:287-97. Epub 2004 Dec 10.

PMID:
15656994
11.

SOX3 gene maps near DXS984 in Xq27.1, within candidate regions for several X-linked disorders.

Mumm S, Zucchi I, Pilia G.

Am J Med Genet. 1997 Oct 31;72(3):376-8. No abstract available.

PMID:
9332676
12.

Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects.

Bauters M, Frints SG, Van Esch H, Spruijt L, Baldewijns MM, de Die-Smulders CE, Fryns JP, Marynen P, Froyen G.

Am J Med Genet A. 2014 Aug;164A(8):1947-52. doi: 10.1002/ajmg.a.36580. Epub 2014 Apr 15.

PMID:
24737742
13.

Construction of a high-density and high-resolution human chromosome X array for comparative genomic hybridization analysis.

Hayashi S, Honda S, Minaguchi M, Makita Y, Okamoto N, Kosaki R, Okuyama T, Imoto I, Mizutani S, Inazawa J.

J Hum Genet. 2007;52(5):397-405. Epub 2007 Apr 4.

PMID:
17406783
14.

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.

Am J Hum Genet. 2002 Dec;71(6):1450-5. Epub 2002 Nov 8.

15.

Mapping of the RXRalpha binding elements involved in retinoic acid induced transcriptional activation of the human SOX3 gene.

Mojsin M, Grujicić NK, Nikcević G, Krstić A, Savić T, Stevanović M.

Neurosci Res. 2006 Dec;56(4):409-18. Epub 2006 Sep 26.

PMID:
17005281
16.

X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase.

Andrew Nesbit M, Bowl MR, Harding B, Schlessinger D, Whyte MP, Thakker RV.

Genomics. 2004 Dec;84(6):1060-70.

PMID:
15533723
17.

High-resolution genomic profiles of breast cancer cell lines assessed by tiling BAC array comparative genomic hybridization.

Jönsson G, Staaf J, Olsson E, Heidenblad M, Vallon-Christersson J, Osoegawa K, de Jong P, Oredsson S, Ringnér M, Höglund M, Borg A.

Genes Chromosomes Cancer. 2007 Jun;46(6):543-58.

PMID:
17334996
18.

Comparison of promoter regions of SOX3, SOX14 and SOX18 orthologs in mammals.

Kovacevic-Grujicic N, Mojsin M, Djurovic J, Petrovic I, Stevanovic M.

DNA Seq. 2008 Jun;19(3):185-94.

PMID:
17852354
19.

Increased gene dosage at Xq26-q27 is associated with X-linked hypopituitarism.

Solomon NM, Nouri S, Warne GL, Lagerström-Fermér M, Forrest SM, Thomas PQ.

Genomics. 2002 Apr;79(4):553-9.

PMID:
11944988
20.

Absence of SOX3 in the developing marsupial gonad is not consistent with a conserved role in mammalian sex determination.

Pask AJ, Harry JL, Renfree MB, Marshall Graves JA.

Genesis. 2000 Aug;27(4):145-52.

PMID:
10992324

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