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Page 1
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.
Vacca M, Filippini F, Budillon A, Rossi V, Mercadante G, Manzati E, Gualandi F, Bigoni S, Trabanelli C, Pini G, Calzolari E, Ferlini A, Meloni I, Hayek G, Zappella M, Renieri A, D'Urso M, D'Esposito M, MacDonald F, Kerr A, Dhanjal S, Hultén M. Vacca M, et al. J Mol Med (Berl). 2001;78(11):648-55. doi: 10.1007/s001090000155. J Mol Med (Berl). 2001. PMID: 11269512
MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region.
Vacca M, Filippini F, Budillon A, Rossi V, Della Ragione F, De Bonis ML, Mercadante G, Manzati E, Gualandi F, Bigoni S, Trabanelli C, Pini G, Calzolari E, Ferlini A, Meloni I, Hayek G, Zappella M, Renieri A, D'Urso M, D'Esposito M, Macdonald F, Kerr A, Dhanjal S, Hulten M. Vacca M, et al. Brain Dev. 2001 Dec;23 Suppl 1:S246-50. doi: 10.1016/s0387-7604(01)00343-6. Brain Dev. 2001. PMID: 11738884
Increased levels of 4HNE-protein plasma adducts in Rett syndrome.
Pecorelli A, Ciccoli L, Signorini C, Leoncini S, Giardini A, D'Esposito M, Filosa S, Hayek J, De Felice C, Valacchi G. Pecorelli A, et al. Clin Biochem. 2011 Apr;44(5-6):368-71. doi: 10.1016/j.clinbiochem.2011.01.007. Epub 2011 Jan 26. Clin Biochem. 2011. PMID: 21276437
F₄-neuroprostanes mediate neurological severity in Rett syndrome.
Signorini C, De Felice C, Leoncini S, Giardini A, D'Esposito M, Filosa S, Della Ragione F, Rossi M, Pecorelli A, Valacchi G, Ciccoli L, Hayek J. Signorini C, et al. Clin Chim Acta. 2011 Jul 15;412(15-16):1399-406. doi: 10.1016/j.cca.2011.04.016. Epub 2011 Apr 17. Clin Chim Acta. 2011. PMID: 21530498
Subclinical myocardial dysfunction in Rett syndrome.
De Felice C, Maffei S, Signorini C, Leoncini S, Lunghetti S, Valacchi G, D'Esposito M, Filosa S, Della Ragione F, Butera G, Favilli R, Ciccoli L, Hayek J. De Felice C, et al. Eur Heart J Cardiovasc Imaging. 2012 Apr;13(4):339-45. doi: 10.1093/ejechocard/jer256. Epub 2011 Nov 23. Eur Heart J Cardiovasc Imaging. 2012. PMID: 22113206
Partial rescue of Rett syndrome by ω-3 polyunsaturated fatty acids (PUFAs) oil.
De Felice C, Signorini C, Durand T, Ciccoli L, Leoncini S, D'Esposito M, Filosa S, Oger C, Guy A, Bultel-Poncé V, Galano JM, Pecorelli A, De Felice L, Valacchi G, Hayek J. De Felice C, et al. Genes Nutr. 2012 Jul;7(3):447-58. doi: 10.1007/s12263-012-0285-7. Epub 2012 Mar 8. Genes Nutr. 2012. PMID: 22399313 Free PMC article.
494 results