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Rett networked database: an integrated clinical and genetic network of Rett syndrome databases.
Grillo E, Villard L, Clarke A, Ben Zeev B, Pineda M, Bahi-Buisson N, Hryniewiecka-Jaworska A, Bienvenu T, Armstrong J, Roche-Martinez A, Mari F, Veneselli E, Russo S, Vignoli A, Pini G, Djuric M, Bisgaard AM, Mejaški Bošnjak V, Polgár N, Cogliati F, Ravn K, Pintaudi M, Melegh B, Craiu D, Djukic A, Renieri A. Grillo E, et al. Among authors: clarke a. Hum Mutat. 2012 Jul;33(7):1031-6. doi: 10.1002/humu.22072. Epub 2012 Apr 13. Hum Mutat. 2012. PMID: 22415763 Free article.
Epilepsy in Rett syndrome--lessons from the Rett networked database.
Nissenkorn A, Levy-Drummer RS, Bondi O, Renieri A, Villard L, Mari F, Mencarelli MA, Lo Rizzo C, Meloni I, Pineda M, Armstrong J, Clarke A, Bahi-Buisson N, Mejaski BV, Djuric M, Craiu D, Djukic A, Pini G, Bisgaard AM, Melegh B, Vignoli A, Russo S, Anghelescu C, Veneselli E, Hayek J, Ben-Zeev B. Nissenkorn A, et al. Among authors: clarke a. Epilepsia. 2015 Apr;56(4):569-76. doi: 10.1111/epi.12941. Epub 2015 Mar 19. Epilepsia. 2015. PMID: 25789914 Free article.
Rett syndrome: revised diagnostic criteria and nomenclature.
Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, Leonard H, Bailey ME, Schanen NC, Zappella M, Renieri A, Huppke P, Percy AK; RettSearch Consortium. Neul JL, et al. Among authors: clarke aj. Ann Neurol. 2010 Dec;68(6):944-50. doi: 10.1002/ana.22124. Ann Neurol. 2010. PMID: 21154482 Free PMC article.
Analysis of the Phenotypes in the Rett Networked Database.
Frullanti E, Papa FT, Grillo E, Clarke A, Ben-Zeev B, Pineda M, Bahi-Buisson N, Bienvenu T, Armstrong J, Roche Martinez A, Mari F, Nissenkorn A, Lo Rizzo C, Veneselli E, Russo S, Vignoli A, Pini G, Djuric M, Bisgaard AM, Ravn K, Bosnjak VM, Hayek J, Khajuria R, Montomoli B, Cogliati F, Pintaudi M, Hadzsiev K, Craiu D, Voinova V, Djukic A, Villard L, Renieri A. Frullanti E, et al. Among authors: clarke a. Int J Genomics. 2019 Mar 27;2019:6956934. doi: 10.1155/2019/6956934. eCollection 2019. Int J Genomics. 2019. PMID: 31049350 Free PMC article.
Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome.
Charman T, Neilson TC, Mash V, Archer H, Gardiner MT, Knudsen GP, McDonnell A, Perry J, Whatley SD, Bunyan DJ, Ravn K, Mount RH, Hastings RP, Hulten M, Orstavik KH, Reilly S, Cass H, Clarke A, Kerr AM, Bailey ME. Charman T, et al. Among authors: clarke a. Eur J Hum Genet. 2005 Oct;13(10):1121-30. doi: 10.1038/sj.ejhg.5201471. Eur J Hum Genet. 2005. PMID: 16077736
Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation.
Archer H, Evans J, Leonard H, Colvin L, Ravine D, Christodoulou J, Williamson S, Charman T, Bailey ME, Sampson J, de Klerk N, Clarke A. Archer H, et al. Among authors: clarke a. J Med Genet. 2007 Feb;44(2):148-52. doi: 10.1136/jmg.2006.045260. Epub 2006 Aug 11. J Med Genet. 2007. PMID: 16905679 Free PMC article.
CDKL5 variants: Improving our understanding of a rare neurologic disorder.
Hector RD, Kalscheuer VM, Hennig F, Leonard H, Downs J, Clarke A, Benke TA, Armstrong J, Pineda M, Bailey MES, Cobb SR. Hector RD, et al. Among authors: clarke a. Neurol Genet. 2017 Dec 15;3(6):e200. doi: 10.1212/NXG.0000000000000200. eCollection 2017 Dec. Neurol Genet. 2017. PMID: 29264392 Free PMC article.
3,815 results