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Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation.
Bijlsma EK, Collins A, Papa FT, Tejada MI, Wheeler P, Peeters EA, Gijsbers AC, van de Kamp JM, Kriek M, Losekoot M, Broekma AJ, Crolla JA, Pollazzon M, Mucciolo M, Katzaki E, Disciglio V, Ferreri MI, Marozza A, Mencarelli MA, Castagnini C, Dosa L, Ariani F, Mari F, Canitano R, Hayek G, Botella MP, Gener B, Mínguez M, Renieri A, Ruivenkamp CA. Bijlsma EK, et al. Among authors: hayek g. Eur J Med Genet. 2012 Jun;55(6-7):404-13. doi: 10.1016/j.ejmg.2012.02.009. Epub 2012 Mar 29. Eur J Med Genet. 2012. PMID: 22522176 Free PMC article.
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: hayek g. Eur J Hum Genet. 2004 Aug;12(8):682-5. doi: 10.1038/sj.ejhg.5201198. Eur J Hum Genet. 2004. PMID: 15069458
MECP2 deletions and genotype-phenotype correlation in Rett syndrome.
Scala E, Longo I, Ottimo F, Speciale C, Sampieri K, Katzaki E, Artuso R, Mencarelli MA, D'Ambrogio T, Vonella G, Zappella M, Hayek G, Battaglia A, Mari F, Renieri A, Ariani F. Scala E, et al. Among authors: hayek g. Am J Med Genet A. 2007 Dec 1;143A(23):2775-84. doi: 10.1002/ajmg.a.32002. Am J Med Genet A. 2007. PMID: 17968969
Investigation of modifier genes within copy number variations in Rett syndrome.
Artuso R, Papa FT, Grillo E, Mucciolo M, Yasui DH, Dunaway KW, Disciglio V, Mencarelli MA, Pollazzon M, Zappella M, Hayek G, Mari F, Renieri A, Lasalle JM, Ariani F. Artuso R, et al. Among authors: hayek g. J Hum Genet. 2011 Jul;56(7):508-15. doi: 10.1038/jhg.2011.50. Epub 2011 May 19. J Hum Genet. 2011. PMID: 21593744 Free PMC article.
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: hayek g. J Med Genet. 2005 Feb;42(2):103-7. doi: 10.1136/jmg.2004.026237. J Med Genet. 2005. PMID: 15689447 Free PMC 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: hayek g. 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
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome.
Mari F, Azimonti S, Bertani I, Bolognese F, Colombo E, Caselli R, Scala E, Longo I, Grosso S, Pescucci C, Ariani F, Hayek G, Balestri P, Bergo A, Badaracco G, Zappella M, Broccoli V, Renieri A, Kilstrup-Nielsen C, Landsberger N. Mari F, et al. Among authors: hayek g. Hum Mol Genet. 2005 Jul 15;14(14):1935-46. doi: 10.1093/hmg/ddi198. Epub 2005 May 25. Hum Mol Genet. 2005. PMID: 15917271
135 results