Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

581 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence.
Rainger JK, Bhatia S, Bengani H, Gautier P, Rainger J, Pearson M, Ansari M, Crow J, Mehendale F, Palinkasova B, Dixon MJ, Thompson PJ, Matarin M, Sisodiya SM, Kleinjan DA, Fitzpatrick DR. Rainger JK, et al. Among authors: thompson pj. Hum Mol Genet. 2014 May 15;23(10):2569-79. doi: 10.1093/hmg/ddt647. Epub 2013 Dec 20. Hum Mol Genet. 2014. PMID: 24363063 Free PMC article.
PAX6, brain structure and function in human adults: advanced MRI in aniridia.
Yogarajah M, Matarin M, Vollmar C, Thompson PJ, Duncan JS, Symms M, Moore AT, Liu J, Thom M, van Heyningen V, Sisodiya SM. Yogarajah M, et al. Among authors: thompson pj. Ann Clin Transl Neurol. 2016 Apr 12;3(5):314-30. doi: 10.1002/acn3.297. eCollection 2016 May. Ann Clin Transl Neurol. 2016. PMID: 27231702 Free PMC article.
Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy.
Arrigoni FI, Matarin M, Thompson PJ, Michaelides M, McClements ME, Redmond E, Clarke L, Ellins E, Mohamed S, Pavord I, Klein N, Hunt DM, Moore AT, Halcox J, Sisodiya SM. Arrigoni FI, et al. Among authors: thompson pj. Eur J Hum Genet. 2011 Feb;19(2):131-7. doi: 10.1038/ejhg.2010.147. Epub 2010 Sep 22. Eur J Hum Genet. 2011. PMID: 20859302 Free PMC article.
Heterozygous mutations of OTX2 cause severe ocular malformations.
Ragge NK, Brown AG, Poloschek CM, Lorenz B, Henderson RA, Clarke MP, Russell-Eggitt I, Fielder A, Gerrelli D, Martinez-Barbera JP, Ruddle P, Hurst J, Collin JR, Salt A, Cooper ST, Thompson PJ, Sisodiya SM, Williamson KA, Fitzpatrick DR, van Heyningen V, Hanson IM. Ragge NK, et al. Among authors: thompson pj. Am J Hum Genet. 2005 Jun;76(6):1008-22. doi: 10.1086/430721. Epub 2005 Apr 21. Am J Hum Genet. 2005. PMID: 15846561 Free PMC article.
Role of SOX2 mutations in human hippocampal malformations and epilepsy.
Sisodiya SM, Ragge NK, Cavalleri GL, Hever A, Lorenz B, Schneider A, Williamson KA, Stevens JM, Free SL, Thompson PJ, van Heyningen V, Fitzpatrick DR. Sisodiya SM, et al. Among authors: thompson pj. Epilepsia. 2006 Mar;47(3):534-42. doi: 10.1111/j.1528-1167.2006.00464.x. Epilepsia. 2006. PMID: 16529618 Free article.
Doublecortin-expressing cell types in temporal lobe epilepsy.
Liu JYW, Matarin M, Reeves C, McEvoy AW, Miserocchi A, Thompson P, Sisodiya SM, Thom M. Liu JYW, et al. Acta Neuropathol Commun. 2018 Jul 13;6(1):60. doi: 10.1186/s40478-018-0566-5. Acta Neuropathol Commun. 2018. PMID: 30005693 Free PMC article.
Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation.
Sisodiya SM, Thompson PJ, Need A, Harris SE, Weale ME, Wilkie SE, Michaelides M, Free SL, Walley N, Gumbs C, Gerrelli D, Ruddle P, Whalley LJ, Starr JM, Hunt DM, Goldstein DB, Deary IJ, Moore AT. Sisodiya SM, et al. Among authors: thompson pj. J Med Genet. 2007 Jun;44(6):373-80. doi: 10.1136/jmg.2006.047407. Epub 2007 Jan 19. J Med Genet. 2007. PMID: 17237123 Free PMC article. Clinical Trial.
A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypes.
Idrees F, Bloch-Zupan A, Free SL, Vaideanu D, Thompson PJ, Ashley P, Brice G, Rutland P, Bitner-Glindzicz M, Khaw PT, Fraser S, Sisodiya SM, Sowden JC. Idrees F, et al. Among authors: thompson pj. Am J Med Genet B Neuropsychiatr Genet. 2006 Mar 5;141B(2):184-91. doi: 10.1002/ajmg.b.30237. Am J Med Genet B Neuropsychiatr Genet. 2006. PMID: 16389592
Cognitive functioning in humans with mutations of the PAX6 gene.
Thompson PJ, Mitchell TN, Free SL, Williamson KA, Hanson IM, van Heyningen V, Moore AT, Sisodiya SM. Thompson PJ, et al. Neurology. 2004 Apr 13;62(7):1216-8. doi: 10.1212/01.wnl.0000118298.81140.62. Neurology. 2004. PMID: 15079031
581 results