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Page 1
Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia.
Simpson NH, Addis L, Brandler WM, Slonims V, Clark A, Watson J, Scerri TS, Hennessy ER, Bolton PF, Conti-Ramsden G, Fairfax BP, Knight JC, Stein J, Talcott JB, O'Hare A, Baird G, Paracchini S, Fisher SE, Newbury DF; SLI Consortium. Simpson NH, et al. Among authors: bolton pf. Dev Med Child Neurol. 2014 Apr;56(4):346-53. doi: 10.1111/dmcn.12294. Epub 2013 Oct 9. Dev Med Child Neurol. 2014. PMID: 24117048 Free PMC article.
CMIP and ATP2C2 modulate phonological short-term memory in language impairment.
Newbury DF, Winchester L, Addis L, Paracchini S, Buckingham LL, Clark A, Cohen W, Cowie H, Dworzynski K, Everitt A, Goodyer IM, Hennessy E, Kindley AD, Miller LL, Nasir J, O'Hare A, Shaw D, Simkin Z, Simonoff E, Slonims V, Watson J, Ragoussis J, Fisher SE, Seckl JR, Helms PJ, Bolton PF, Pickles A, Conti-Ramsden G, Baird G, Bishop DV, Monaco AP. Newbury DF, et al. Among authors: bolton pf. Am J Hum Genet. 2009 Aug;85(2):264-72. doi: 10.1016/j.ajhg.2009.07.004. Epub 2009 Jul 30. Am J Hum Genet. 2009. PMID: 19646677 Free PMC article.
Associations of HLA alleles with specific language impairment.
Nudel R, Simpson NH, Baird G, O'Hare A, Conti-Ramsden G, Bolton PF, Hennessy ER; SLI Consortium; Monaco AP, Knight JC, Winney B, Fisher SE, Newbury DF. Nudel R, et al. Among authors: bolton pf. J Neurodev Disord. 2014 Jan 17;6(1):1. doi: 10.1186/1866-1955-6-1. J Neurodev Disord. 2014. PMID: 24433325 Free PMC article.
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: bolton pf. 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.
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: bolton pf. 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.
Exome sequencing in an admixed isolated population indicates NFXL1 variants confer a risk for specific language impairment.
Villanueva P, Nudel R, Hoischen A, Fernández MA, Simpson NH, Gilissen C, Reader RH, Jara L, Echeverry MM, Francks C, Baird G, Conti-Ramsden G, O'Hare A, Bolton PF, Hennessy ER; SLI Consortium; Palomino H, Carvajal-Carmona L, Veltman JA, Cazier JB, De Barbieri Z, Fisher SE, Newbury DF. Villanueva P, et al. Among authors: bolton pf. PLoS Genet. 2015 Mar 17;11(3):e1004925. doi: 10.1371/journal.pgen.1004925. eCollection 2015 Mar. PLoS Genet. 2015. PMID: 25781923 Free PMC article.
Correction: Exome Sequencing in an Admixed Isolated Population Indicates NFXL1 Variants Confer a Risk for Specific Language Impairment.
Villanueva P, Nudel R, Hoischen A, Fernández MA, Simpson NH, Gilissen C, Reader RH, Jara L, Magdalena Echeverry M, Francks C, Baird G, Conti-Ramsden G, O'Hare A, Bolton PF, Hennessy ER; SLI Consortium; Palomino H, Carvajal-Carmona L, Veltman JA, Cazier JB, De Barbieri Z, Fisher SE, Newbury DF. Villanueva P, et al. Among authors: bolton pf. PLoS Genet. 2015 Jun 26;11(6):e1005336. doi: 10.1371/journal.pgen.1005336. eCollection 2015 Jun. PLoS Genet. 2015. PMID: 26114769 Free PMC article. No abstract available.
Long-term cognitive outcomes in tuberous sclerosis complex.
Tye C, Mcewen FS, Liang H, Underwood L, Woodhouse E, Barker ED, Sheerin F, Yates JRW, Bolton PF; Tuberous Sclerosis 2000 Study Group. Tye C, et al. Among authors: bolton pf. Dev Med Child Neurol. 2020 Mar;62(3):322-329. doi: 10.1111/dmcn.14356. Epub 2019 Sep 19. Dev Med Child Neurol. 2020. PMID: 31538337 Free PMC article.
136 results