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Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment.
Ceroni F, Simpson NH, Francks C, Baird G, Conti-Ramsden G, Clark A, Bolton PF, Hennessy ER, Donnelly P, Bentley DR, Martin H; IMGSAC; SLI Consortium; WGS500 Consortium; Parr J, Pagnamenta AT, Maestrini E, Bacchelli E, Fisher SE, Newbury DF. Ceroni F, et al. Among authors: parr j. Eur J Hum Genet. 2014 Oct;22(10):1165-71. doi: 10.1038/ejhg.2014.4. Epub 2014 Feb 12. Eur J Hum Genet. 2014. PMID: 24518835 Free PMC article.
Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Cicek AE, Kou Y, Liu L, Fromer M, Walker S, Singh T, Klei L, Kosmicki J, Shih-Chen F, Aleksic B, Biscaldi M, Bolton PF, Brownfeld JM, Cai J, Campbell NG, Carracedo A, Chahrour MH, Chiocchetti AG, Coon H, Crawford EL, Curran SR, Dawson G, Duketis E, Fernandez BA, Gallagher L, Geller E, Guter SJ, Hill RS, Ionita-Laza J, Jimenz Gonzalez P, Kilpinen H, Klauck SM, Kolevzon A, Lee I, Lei I, Lei J, Lehtimäki T, Lin CF, Ma'ayan A, Marshall CR, McInnes AL, Neale B, Owen MJ, Ozaki N, Parellada M, Parr JR, Purcell S, Puura K, Rajagopalan D, Rehnström K, Reichenberg A, Sabo A, Sachse M, Sanders SJ, Schafer C, Schulte-Rüther M, Skuse D, Stevens C, Szatmari P, Tammimies K, Valladares O, Voran A, Li-San W, Weiss LA, Willsey AJ, Yu TW, Yuen RK; DDD Study; Homozygosity Mapping Collaborative for Autism; UK10K Consortium; Cook EH, Freitag CM, Gill M, Hultman CM, Lehner T, Palotie A, Schellenberg GD, Sklar P, State MW, Sutcliffe JS, Walsh CA, Scherer SW, Zwick ME, Barett JC, Cutler DJ, Roeder K, Devlin B, Daly MJ, Buxbaum JD. De Rubeis S, et al. Among authors: parr jr. Nature. 2014 Nov 13;515(7526):209-15. doi: 10.1038/nature13772. Epub 2014 Oct 29. Nature. 2014. PMID: 25363760 Free PMC article.
Reply to Pembrey et al: 'ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis'.
Ceroni F, Simpson NH, Francks C, Baird G, Conti-Ramsden G, Clark A, Bolton PF, Hennessy ER, Donnelly P, Bentley DR, Martin H; IMGSAC; SLI Consortium; WGS500 Consortium; Parr J, Pagnamenta AT, Maestrini E, Bacchelli E, Fisher SE, Newbury DF. Ceroni F, et al. Among authors: parr j. Eur J Hum Genet. 2015 Sep;23(9):1113-5. doi: 10.1038/ejhg.2014.275. Epub 2014 Dec 24. Eur J Hum Genet. 2015. PMID: 25537359 Free PMC article. No abstract available.
Understanding frames: A UK survey of parents and professionals regarding the use of standing frames for children with cerebral palsy.
Goodwin J, Colver A, Basu A, Crombie S, Howel D, Parr JR, McColl E, Kolehmainen N, Roberts A, Lecouturier J, Smith J, Miller K, Cadwgan J. Goodwin J, et al. Among authors: parr jr. Child Care Health Dev. 2018 Mar;44(2):195-202. doi: 10.1111/cch.12505. Epub 2017 Aug 15. Child Care Health Dev. 2018. PMID: 28809057 Free PMC article.
Understanding frames: A qualitative study of young people's experiences of using standing frames as part of postural management for cerebral palsy.
Goodwin J, Lecouturier J, Crombie S, Smith J, Basu A, Colver A, Kolehmainen N, Parr JR, Howel D, McColl E, Roberts A, Miller K, Cadwgan J. Goodwin J, et al. Among authors: parr jr. Child Care Health Dev. 2018 Mar;44(2):203-211. doi: 10.1111/cch.12540. Epub 2017 Nov 23. Child Care Health Dev. 2018. PMID: 29168216
Autism.
Parr J. Parr J. BMJ Clin Evid. 2010 Jan 7;2010:0322. BMJ Clin Evid. 2010. PMID: 21729335 Free PMC article. Review.
534 results