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Page 1
Maternally inherited genetic variants of CADPS2 are present in autism spectrum disorders and intellectual disability patients.
Bonora E, Graziano C, Minopoli F, Bacchelli E, Magini P, Diquigiovanni C, Lomartire S, Bianco F, Vargiolu M, Parchi P, Marasco E, Mantovani V, Rampoldi L, Trudu M, Parmeggiani A, Battaglia A, Mazzone L, Tortora G; IMGSAC; Maestrini E, Seri M, Romeo G. Bonora E, et al. Among authors: bacchelli e. EMBO Mol Med. 2014 Jun;6(6):795-809. doi: 10.1002/emmm.201303235. Epub 2014 Apr 6. EMBO Mol Med. 2014. PMID: 24737869 Free PMC article.
Mutation analysis of the coding sequence of the MECP2 gene in infantile autism.
Beyer KS, Blasi F, Bacchelli E, Klauck SM, Maestrini E, Poustka A; International Molecular Genetic Study of Autism Consortium (IMGSAC). Beyer KS, et al. Among authors: bacchelli e. Hum Genet. 2002 Oct;111(4-5):305-9. doi: 10.1007/s00439-002-0786-3. Epub 2002 Aug 14. Hum Genet. 2002. PMID: 12384770
DNA variants in the human RAB3A gene are not associated with autism.
D'Adamo P, Bacchelli E, Blasi F, Lipp HP, Toniolo D, Maestrini E. D'Adamo P, et al. Among authors: bacchelli e. Genes Brain Behav. 2004 Apr;3(2):123-4. doi: 10.1111/j.1601-183x.2003.00058.x. Genes Brain Behav. 2004. PMID: 15005721 Free article. Clinical Trial.
Mutation screening and association analysis of six candidate genes for autism on chromosome 7q.
Bonora E, Lamb JA, Barnby G, Sykes N, Moberly T, Beyer KS, Klauck SM, Poustka F, Bacchelli E, Blasi F, Maestrini E, Battaglia A, Haracopos D, Pedersen L, Isager T, Eriksen G, Viskum B, Sorensen EU, Brondum-Nielsen K, Cotterill R, Engeland Hv, Jonge Md, Kemner C, Steggehuis K, Scherpenisse M, Rutter M, Bolton PF, Parr JR, Poustka A, Bailey AJ, Monaco AP; International Molecular Genetic Study of Austism Consortium. Bonora E, et al. Among authors: bacchelli e. Eur J Hum Genet. 2005 Feb;13(2):198-207. doi: 10.1038/sj.ejhg.5201315. Eur J Hum Genet. 2005. PMID: 15523497
Autism spectrum disorders: molecular genetic advances.
Bacchelli E, Maestrini E. Bacchelli E, et al. Am J Med Genet C Semin Med Genet. 2006 Feb 15;142C(1):13-23. doi: 10.1002/ajmg.c.30078. Am J Med Genet C Semin Med Genet. 2006. PMID: 16419096 Review.
Absence of coding mutations in the X-linked genes neuroligin 3 and neuroligin 4 in individuals with autism from the IMGSAC collection.
Blasi F, Bacchelli E, Pesaresi G, Carone S, Bailey AJ, Maestrini E; International Molecular Genetic Study of Autism Consortium (IMGSAC). Blasi F, et al. Among authors: bacchelli e. Am J Med Genet B Neuropsychiatr Genet. 2006 Apr 5;141B(3):220-1. doi: 10.1002/ajmg.b.30287. Am J Med Genet B Neuropsychiatr Genet. 2006. PMID: 16508939
Analysis of X chromosome inactivation in autism spectrum disorders.
Gong X, Bacchelli E, Blasi F, Toma C, Betancur C, Chaste P, Delorme R, Durand CM, Fauchereau F, Botros HG, Leboyer M, Mouren-Simeoni MC, Nygren G, Anckarsäter H, Rastam M, Gillberg IC, Gillberg C, Moreno-De-Luca D, Carone S, Nummela I, Rossi M, Battaglia A; International Molecular Genetic Study of Autism Consortium (IMGSAC); Jarvela I, Maestrini E, Bourgeron T. Gong X, et al. Among authors: bacchelli e. Am J Med Genet B Neuropsychiatr Genet. 2008 Sep 5;147B(6):830-5. doi: 10.1002/ajmg.b.30688. Am J Med Genet B Neuropsychiatr Genet. 2008. PMID: 18361425 Free PMC article.
52 results