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Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies CAPG as a Functionally Relevant Candidate Gene.
Bacchelli E, Loi E, Cameli C, Moi L, Vega-Benedetti AF, Blois S, Fadda A, Bonora E, Mattu S, Fadda R, Chessa R, Maestrini E, Doneddu G, Zavattari P. Bacchelli E, et al. Among authors: bonora e. J Clin Med. 2019 Feb 7;8(2):212. doi: 10.3390/jcm8020212. J Clin Med. 2019. PMID: 30736458 Free PMC article.
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. 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.
Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene.
Bacchelli E, Blasi F, Biondolillo M, Lamb JA, Bonora E, Barnby G, Parr J, Beyer KS, Klauck SM, Poustka A, Bailey AJ, Monaco AP, Maestrini E; International Molecular Genetic Study of Autism Consortium (IMGSAC). Bacchelli E, et al. Among authors: bonora e. Mol Psychiatry. 2003 Nov;8(11):916-24. doi: 10.1038/sj.mp.4001340. Mol Psychiatry. 2003. PMID: 14593429
Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects.
Lamb JA, Barnby G, Bonora E, Sykes N, Bacchelli E, Blasi F, Maestrini E, Broxholme J, Tzenova J, Weeks D, Bailey AJ, Monaco AP; International Molecular Genetic Study of Autism Consortium (IMGSAC). Lamb JA, et al. Among authors: bonora e. J Med Genet. 2005 Feb;42(2):132-7. doi: 10.1136/jmg.2004.025668. J Med Genet. 2005. PMID: 15689451 Free PMC article.
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. Eur J Hum Genet. 2005 Feb;13(2):198-207. doi: 10.1038/sj.ejhg.5201315. Eur J Hum Genet. 2005. PMID: 15523497
RASAL1 and ROS1 Gene Variants in Hereditary Breast Cancer.
Isidori F, Bozzarelli I, Ferrari S, Godino L, Innella G, Turchetti D, Bonora E. Isidori F, et al. Among authors: bonora e. Cancers (Basel). 2020 Sep 7;12(9):2539. doi: 10.3390/cancers12092539. Cancers (Basel). 2020. PMID: 32906649 Free PMC article.
Genetics of Familial Non-Medullary Thyroid Carcinoma (FNMTC).
Diquigiovanni C, Bonora E. Diquigiovanni C, et al. Among authors: bonora e. Cancers (Basel). 2021 Apr 30;13(9):2178. doi: 10.3390/cancers13092178. Cancers (Basel). 2021. PMID: 33946592 Free PMC article. Review.
488 results