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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: renieri a. Ann Neurol. 2010 Dec;68(6):944-50. doi: 10.1002/ana.22124. Ann Neurol. 2010. PMID: 21154482 Free PMC article.
Preserved speech variant is allelic of classic Rett syndrome.
De Bona C, Zappella M, Hayek G, Meloni I, Vitelli F, Bruttini M, Cusano R, Loffredo P, Longo I, Renieri A. De Bona C, et al. Among authors: renieri a. Eur J Hum Genet. 2000 May;8(5):325-30. doi: 10.1038/sj.ejhg.5200473. Eur J Hum Genet. 2000. PMID: 10854091 Free article.
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. Among authors: renieri a. J Mol Med (Berl). 2001;78(11):648-55. doi: 10.1007/s001090000155. J Mol Med (Berl). 2001. PMID: 11269512
Study of MECP2 gene in Rett syndrome variants and autistic girls.
Zappella M, Meloni I, Longo I, Canitano R, Hayek G, Rosaia L, Mari F, Renieri A. Zappella M, et al. Among authors: renieri a. Am J Med Genet B Neuropsychiatr Genet. 2003 May 15;119B(1):102-7. doi: 10.1002/ajmg.b.10070. Am J Med Genet B Neuropsychiatr Genet. 2003. PMID: 12707946
Rett syndrome: the complex nature of a monogenic disease.
Renieri A, Meloni I, Longo I, Ariani F, Mari F, Pescucci C, Cambi F. Renieri A, et al. J Mol Med (Berl). 2003 Jun;81(6):346-54. doi: 10.1007/s00109-003-0444-9. Epub 2003 May 16. J Mol Med (Berl). 2003. PMID: 12750821 Review.
Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements.
Longo I, Russo L, Meloni I, Ricci I, Ariani F, Pescucci C, Giordano CT, Canitano R, Hayek G, Zappella M, Neri G, Renieri A, Gurrieri F. Longo I, et al. Among authors: renieri a. Eur J Hum Genet. 2004 Aug;12(8):682-5. doi: 10.1038/sj.ejhg.5201198. Eur J Hum Genet. 2004. PMID: 15069458
428 results