Gecz J - Search Results

1

Robust imaging and gene delivery to study human lymphoblastoid cell lines.

Jolly LA, Sun Y, Carroll R, Homan CC, Gecz J. Jolly LA, et al. Among authors: gecz j. J Hum Genet. 2018 Sep;63(9):945-955. doi: 10.1038/s10038-018-0483-2. Epub 2018 Jun 20. J Hum Genet. 2018. PMID: 29925960

2

Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions.

Sharma S, Ang SL, Shaw M, Mackey DA, Gécz J, McAvoy JW, Craig JE. Sharma S, et al. Among authors: gecz j. Hum Mol Genet. 2006 Jun 15;15(12):1972-83. doi: 10.1093/hmg/ddl120. Epub 2006 May 4. Hum Mol Genet. 2006. PMID: 16675532

3

A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.

Corbett MA, Bahlo M, Jolly L, Afawi Z, Gardner AE, Oliver KL, Tan S, Coffey A, Mulley JC, Dibbens LM, Simri W, Shalata A, Kivity S, Jackson GD, Berkovic SF, Gecz J. Corbett MA, et al. Among authors: gecz j. Am J Hum Genet. 2010 Sep 10;87(3):371-5. doi: 10.1016/j.ajhg.2010.08.001. Am J Hum Genet. 2010. PMID: 20797691 Free PMC article.

4

ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repression.

Shoubridge C, Tan MH, Seiboth G, Gécz J. Shoubridge C, et al. Among authors: gecz j. Hum Mol Genet. 2012 Apr 1;21(7):1639-47. doi: 10.1093/hmg/ddr601. Epub 2011 Dec 21. Hum Mol Genet. 2012. PMID: 22194193

5

A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.

Huang L, Jolly LA, Willis-Owen S, Gardner A, Kumar R, Douglas E, Shoubridge C, Wieczorek D, Tzschach A, Cohen M, Hackett A, Field M, Froyen G, Hu H, Haas SA, Ropers HH, Kalscheuer VM, Corbett MA, Gecz J. Huang L, et al. Among authors: gecz j. Am J Hum Genet. 2012 Oct 5;91(4):694-702. doi: 10.1016/j.ajhg.2012.08.011. Epub 2012 Sep 20. Am J Hum Genet. 2012. PMID: 23000143 Free PMC article.

6

Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.

Nguyen LS, Kim HG, Rosenfeld JA, Shen Y, Gusella JF, Lacassie Y, Layman LC, Shaffer LG, Gécz J. Nguyen LS, et al. Among authors: gecz j. Hum Mol Genet. 2013 May 1;22(9):1816-25. doi: 10.1093/hmg/ddt035. Epub 2013 Jan 31. Hum Mol Genet. 2013. PMID: 23376982

7

Loss of FMR2 further emphasizes the link between deregulation of immediate early response genes FOS and JUN and intellectual disability.

Melko M, Nguyen LS, Shaw M, Jolly L, Bardoni B, Gecz J. Melko M, et al. Among authors: gecz j. Hum Mol Genet. 2013 Aug 1;22(15):2984-91. doi: 10.1093/hmg/ddt155. Epub 2013 Apr 5. Hum Mol Genet. 2013. PMID: 23562910

8

The UPF3B gene, implicated in intellectual disability, autism, ADHD and childhood onset schizophrenia regulates neural progenitor cell behaviour and neuronal outgrowth.

Jolly LA, Homan CC, Jacob R, Barry S, Gecz J. Jolly LA, et al. Among authors: gecz j. Hum Mol Genet. 2013 Dec 1;22(23):4673-87. doi: 10.1093/hmg/ddt315. Epub 2013 Jul 2. Hum Mol Genet. 2013. PMID: 23821644

9

Loss of Usp9x disrupts cortical architecture, hippocampal development and TGFβ-mediated axonogenesis.

Stegeman S, Jolly LA, Premarathne S, Gecz J, Richards LJ, Mackay-Sim A, Wood SA. Stegeman S, et al. Among authors: gecz j. PLoS One. 2013 Jul 5;8(7):e68287. doi: 10.1371/journal.pone.0068287. Print 2013. PLoS One. 2013. PMID: 23861879 Free PMC article.

10

Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulation.

Lee K, Mattiske T, Kitamura K, Gecz J, Shoubridge C. Lee K, et al. Among authors: gecz j. Hum Mol Genet. 2014 Feb 15;23(4):1084-94. doi: 10.1093/hmg/ddt503. Epub 2013 Oct 10. Hum Mol Genet. 2014. PMID: 24122442

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