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Page 1
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel-Hamid MS, Abdel-Salam GM, Ackroyd S, Aeby A, Agosta G, Albin C, Allon-Shalev S, Arellano M, Ariaudo G, Aswani V, Babul-Hirji R, Baildam EM, Bahi-Buisson N, Bailey KM, Barnerias C, Barth M, Battini R, Beresford MW, Bernard G, Bianchi M, Billette de Villemeur T, Blair EM, Bloom M, Burlina AB, Carpanelli ML, Carvalho DR, Castro-Gago M, Cavallini A, Cereda C, Chandler KE, Chitayat DA, Collins AE, Sierra Corcoles C, Cordeiro NJ, Crichiutti G, Dabydeen L, Dale RC, D'Arrigo S, De Goede CG, De Laet C, De Waele LM, Denzler I, Desguerre I, Devriendt K, Di Rocco M, Fahey MC, Fazzi E, Ferrie CD, Figueiredo A, Gener B, Goizet C, Gowrinathan NR, Gowrishankar K, Hanrahan D, Isidor B, Kara B, Khan N, King MD, Kirk EP, Kumar R, Lagae L, Landrieu P, Lauffer H, Laugel V, La Piana R, Lim MJ, Lin JP, Linnankivi T, Mackay MT, Marom DR, Marques Lourenço C, McKee SA, Moroni I, Morton JE, Moutard ML, Murray K, Nabbout R, Nampoothiri S, Nunez-Enamorado N, Oades PJ, Olivieri I, Ostergaard JR, Pérez-Dueñas B, Prendiville JS, Ramesh V, Rasmussen M, Régal L, Ricci F, Rio M, Ro… See abstract for full author list ➔ Crow YJ, et al. Among authors: chase ds. Am J Med Genet A. 2015 Feb;167A(2):296-312. doi: 10.1002/ajmg.a.36887. Epub 2015 Jan 16. Am J Med Genet A. 2015. PMID: 25604658 Free PMC article.
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.
Rice GI, Forte GM, Szynkiewicz M, Chase DS, Aeby A, Abdel-Hamid MS, Ackroyd S, Allcock R, Bailey KM, Balottin U, Barnerias C, Bernard G, Bodemer C, Botella MP, Cereda C, Chandler KE, Dabydeen L, Dale RC, De Laet C, De Goede CG, Del Toro M, Effat L, Enamorado NN, Fazzi E, Gener B, Haldre M, Lin JP, Livingston JH, Lourenco CM, Marques W Jr, Oades P, Peterson P, Rasmussen M, Roubertie A, Schmidt JL, Shalev SA, Simon R, Spiegel R, Swoboda KJ, Temtamy SA, Vassallo G, Vilain CN, Vogt J, Wermenbol V, Whitehouse WP, Soler D, Olivieri I, Orcesi S, Aglan MS, Zaki MS, Abdel-Salam GM, Vanderver A, Kisand K, Rozenberg F, Lebon P, Crow YJ. Rice GI, et al. Among authors: chase ds. Lancet Neurol. 2013 Dec;12(12):1159-69. doi: 10.1016/S1474-4422(13)70258-8. Epub 2013 Oct 30. Lancet Neurol. 2013. PMID: 24183309 Free PMC article.
The HTR1A and HTR1B receptor genes influence stress-related information processing.
Mekli K, Payton A, Miyajima F, Platt H, Thomas E, Downey D, Lloyd-Williams K, Chase D, Toth ZG, Elliott R, Ollier WE, Anderson IM, Deakin JF, Bagdy G, Juhasz G. Mekli K, et al. Eur Neuropsychopharmacol. 2011 Jan;21(1):129-39. doi: 10.1016/j.euroneuro.2010.06.013. Epub 2010 Jul 17. Eur Neuropsychopharmacol. 2011. PMID: 20638825
Genetic variants in the catechol-o-methyltransferase gene are associated with impulsivity and executive function: relevance for major depression.
Pap D, Gonda X, Molnar E, Lazary J, Benko A, Downey D, Thomas E, Chase D, Toth ZG, Mekli K, Platt H, Payton A, Elliott R, Anderson IM, Deakin JF, Bagdy G, Juhasz G. Pap D, et al. Am J Med Genet B Neuropsychiatr Genet. 2012 Dec;159B(8):928-40. doi: 10.1002/ajmg.b.32098. Epub 2012 Sep 24. Am J Med Genet B Neuropsychiatr Genet. 2012. PMID: 23008195
Variations in the cannabinoid receptor 1 gene predispose to migraine.
Juhasz G, Lazary J, Chase D, Pegg E, Downey D, Toth ZG, Stones K, Platt H, Mekli K, Payton A, Anderson IM, Deakin JF, Bagdy G. Juhasz G, et al. Neurosci Lett. 2009 Sep 18;461(2):116-20. doi: 10.1016/j.neulet.2009.06.021. Epub 2009 Jun 17. Neurosci Lett. 2009. PMID: 19539700
Risk-taking behavior in a gambling task associated with variations in the tryptophan hydroxylase 2 gene: relevance to psychiatric disorders.
Juhasz G, Downey D, Hinvest N, Thomas E, Chase D, Toth ZG, Lloyd-Williams K, Mekli K, Platt H, Payton A, Bagdy G, Elliott R, Deakin JF, Anderson IM. Juhasz G, et al. Neuropsychopharmacology. 2010 Apr;35(5):1109-19. doi: 10.1038/npp.2009.216. Epub 2009 Dec 30. Neuropsychopharmacology. 2010. PMID: 20043001 Free PMC article.
23 results