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421 results

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Page 1
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: mari f. Hum Mutat. 2012 Jul;33(7):1031-6. doi: 10.1002/humu.22072. Epub 2012 Apr 13. Hum Mutat. 2012. PMID: 22415763 Free article.
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: mari f. 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. Among authors: mari f. 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.
Type-IV collagen related diseases.
Pescucci C, Longo I, Bruttini M, Mari F, Renieri A. Pescucci C, et al. Among authors: mari f. J Nephrol. 2003 Mar-Apr;16(2):314-6. J Nephrol. 2003. PMID: 12768082 Review.
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms.
Scala E, Ariani F, Mari F, Caselli R, Pescucci C, Longo I, Meloni I, Giachino D, Bruttini M, Hayek G, Zappella M, Renieri A. Scala E, et al. Among authors: mari f. J Med Genet. 2005 Feb;42(2):103-7. doi: 10.1136/jmg.2004.026237. J Med Genet. 2005. PMID: 15689447 Free PMC article.
421 results