Fullston T - Search Results

1

Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division.

Shoubridge C, Tan MH, Fullston T, Cloosterman D, Coman D, McGillivray G, Mancini GM, Kleefstra T, Gécz J. Shoubridge C, et al. Among authors: fullston t. Pathogenetics. 2010 Jan 5;3:1. doi: 10.1186/1755-8417-3-1. Pathogenetics. 2010. PMID: 20148114 Free PMC article.

2

ARX spectrum disorders: making inroads into the molecular pathology.

Shoubridge C, Fullston T, Gécz J. Shoubridge C, et al. Among authors: fullston t. Hum Mutat. 2010 Aug;31(8):889-900. doi: 10.1002/humu.21288. Hum Mutat. 2010. PMID: 20506206 Review.

3

Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X).

Fullston T, Brueton L, Willis T, Philip S, MacPherson L, Finnis M, Gecz J, Morton J. Fullston T, et al. Eur J Hum Genet. 2010 Feb;18(2):157-62. doi: 10.1038/ejhg.2009.139. Epub 2009 Sep 9. Eur J Hum Genet. 2010. PMID: 19738637 Free PMC article.

4

Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders.

White R, Ho G, Schmidt S, Scheffer IE, Fischer A, Yendle SC, Bienvenu T, Nectoux J, Ellaway CJ, Darmanian A, Tong X, Cloosterman D, Bennetts B, Kalra V, Fullston T, Gecz J, Cox TC, Christodoulou J. White R, et al. Among authors: fullston t. Twin Res Hum Genet. 2010 Apr;13(2):168-78. doi: 10.1375/twin.13.2.168. Twin Res Hum Genet. 2010. PMID: 20397747

5

Clinical study of two brothers with a novel 33 bp duplication in the ARX gene.

Demos MK, Fullston T, Partington MW, Gécz J, Gibson WT. Demos MK, et al. Among authors: fullston t. Am J Med Genet A. 2009 Jul;149A(7):1482-6. doi: 10.1002/ajmg.a.32851. Am J Med Genet A. 2009. PMID: 19507262

6

Inherited balanced translocation t(9;17)(q33.2;q25.3) concomitant with a 16p13.1 duplication in a patient with schizophrenia.

Fullston T, Gabb B, Callen D, Ullmann R, Woollatt E, Bain S, Ropers HH, Cooper M, Chandler D, Carter K, Jablensky A, Kalaydjieva L, Gecz J. Fullston T, et al. Am J Med Genet B Neuropsychiatr Genet. 2011 Mar;156(2):204-14. doi: 10.1002/ajmg.b.31157. Epub 2011 Jan 13. Am J Med Genet B Neuropsychiatr Genet. 2011. PMID: 21302349

7

A novel de novo 27 bp duplication of the ARX gene, resulting from postzygotic mosaicism and leading to three severely affected males in two generations.

Reish O, Fullston T, Regev M, Heyman E, Gecz J. Reish O, et al. Among authors: fullston t. Am J Med Genet A. 2009 Aug;149A(8):1655-60. doi: 10.1002/ajmg.a.32842. Am J Med Genet A. 2009. PMID: 19606478

8

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

de Brouwer AP, Yntema HG, Kleefstra T, Lugtenberg D, Oudakker AR, de Vries BB, van Bokhoven H, Van Esch H, Frints SG, Froyen G, Fryns JP, Raynaud M, Moizard MP, Ronce N, Bensalem A, Moraine C, Poirier K, Castelnau L, Saillour Y, Bienvenu T, Beldjord C, des Portes V, Chelly J, Turner G, Fullston T, Gecz J, Kuss AW, Tzschach A, Jensen LR, Lenzner S, Kalscheuer VM, Ropers HH, Hamel BC. de Brouwer AP, et al. Among authors: fullston t. Hum Mutat. 2007 Feb;28(2):207-8. doi: 10.1002/humu.9482. Hum Mutat. 2007. PMID: 17221867

9

Lack of FMR3 expression in a male with non-syndromic mental retardation and a microdeletion immediately distal to FRAXE CCG repeat.

Santos-Rebouças CB, Abdalla CB, Fullston T, Campos M Jr, Pimentel MM, Gécz J. Santos-Rebouças CB, et al. Among authors: fullston t. Neurosci Lett. 2006 Apr 24;397(3):245-8. doi: 10.1016/j.neulet.2005.12.089. Epub 2006 Feb 15. Neurosci Lett. 2006. PMID: 16469443

10

Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.

Whibley AC, Plagnol V, Tarpey PS, Abidi F, Fullston T, Choma MK, Boucher CA, Shepherd L, Willatt L, Parkin G, Smith R, Futreal PA, Shaw M, Boyle J, Licata A, Skinner C, Stevenson RE, Turner G, Field M, Hackett A, Schwartz CE, Gecz J, Stratton MR, Raymond FL. Whibley AC, et al. Among authors: fullston t. Am J Hum Genet. 2010 Aug 13;87(2):173-88. doi: 10.1016/j.ajhg.2010.06.017. Epub 2010 Jul 22. Am J Hum Genet. 2010. PMID: 20655035 Free PMC article.

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