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Elena Maestrini

Professoressa ordinaria

Dipartimento di Farmacia e Biotecnologie

Settore scientifico disciplinare: BIOS-14/A Genetica

Pubblicazioni

Leblond C.S.; Heinrich J.; Delorme R.; Proepper C.; Betancur C.; Huguet G.; Konyukh M.; Chaste P| Ey E.; Rastam M.; Anckarsäter H.; Nygren G.; Gillberg IC.; Melke J.; Toro R.; Regnault B.; Fauchereau F.; Mercati O.; Lemière N.; Skuse D.; Poot M.; Holt R.; Monaco A.P.; Järvelä I.; Kantojärvi K.; Vanhala R.; Curran S.; Collier D.A.; Bolton P.; Chiocchetti A.; Klauck S.M.; Poustka F.; Freitag C.M.; Waltes R.; Kopp M.; Duketis E.; Bacchelli E.; Minopoli F.; Ruta L.; Battaglia A.; Mazzone L.; Maestrini E.; Sequeira A.F.; Oliveira B.; Vicente A.; Oliveira G.; Pinto D.; Scherer S.W.; Zelenika D.; Delepine M.; Lathrop M.; Bonneau D.; Guinchat V.; Devillard F.; Assouline B.; Mouren M.C.; Leboyer M.; Gillberg C.; Boeckers T.M.; Bourgeron T., Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders., «PLOS GENETICS», 2012, 8, Article number: e1002521, pp. 1 - 17 [articolo]

Anney R; Klei L; Pinto D; Almeida J; Bacchelli E; Baird G; Bolshakova N; Bölte S; Bolton PF; Bourgeron T; Brennan S; Brian J; Casey J; Conroy J; Correia C; Corsello C; Crawford EL; de Jonge M; Delorme R; Duketis E; Duque F; Estes A; Farrar P; Fernandez BA; Folstein SE; Fombonne E; Gilbert J; Gillberg C; Glessner JT; Green A; Green J; Guter SJ; Heron EA; Holt R; Howe JL; Hughes G; Hus V; Igliozzi R; Jacob S; Kenny GP; Kim C; Kolevzon A; Kustanovich V; Lajonchere CM; Lamb JA; Law-Smith M; Leboyer M; Le Couteur A; Leventhal BL; Liu XQ; Lombard F; Lord C; Lotspeich L; Lund SC; Magalhaes TR; Mantoulan C; McDougle CJ; Melhem NM; Merikangas A; Minshew NJ; Mirza GK; Munson J; Noakes C; Nygren G; Papanikolaou K; Pagnamenta AT; Parrini B; Paton T; Pickles A; Posey DJ; Poustka F; Ragoussis J; Regan R; Roberts W; Roeder K; Roge B; Rutter ML; Schlitt S; Shah N; Sheffield VC; Soorya L; Sousa I; Stoppioni V; Sykes N; Tancredi R; Thompson AP; Thomson S; Tryfon A; Tsiantis J; Van Engeland H; Vincent , Individual common variants exert weak effects on the risk for autism spectrum disorders., «HUMAN MOLECULAR GENETICS», 2012, 21, pp. 4781 - 4792 [articolo]

Anney R; Klei L; Pinto D; Regan R; Conroy J; Magalhaes TR; Correia C; Abrahams BS; Sykes N; Pagnamenta AT; Almeida J; Bacchelli E; Bailey AJ; Baird G; Battaglia A; Berney T; Bolshakova N; Bölte S; Bolton PF; Bourgeron T; Brennan S; Brian J; Carson AR; Casallo G; Casey J; Chu SH; Cochrane L; Corsello C; Crawford EL; Crossett A; Dawson G; de Jonge M; Delorme R; Drmic I; Duketis E; Duque F; Estes A; Farrar P; Fernandez BA; Folstein SE; Fombonne E; Freitag CM; Gilbert J; Gillberg C; Glessner JT; Goldberg J; Green J; Guter SJ; Hakonarson H; Heron EA; Hill M; Holt R; Howe JL; Hughes G; Hus V; Igliozzi R; Kim C; Klauck SM; Kolevzon A; Korvatska O; Kustanovich V; Lajonchere CM; Lamb JA; Laskawiec M; Leboyer M; Le Couteur A; Leventhal BL; Lionel AC; Liu XQ; Lord C; Lotspeich L; Lund SC; Maestrini E; Mahoney W; Mantoulan C; Marshall CR; McConachie H; McDougle CJ; McGrath J; McMahon WM; Melhem NM; Merikangas A; Migita O; Minshew NJ; Mirza GK; Munson J; Nelson SF; Noakes C; Noor A; Nygren G; Oli, A genome-wide scan for common alleles affecting risk for autism., «HUMAN MOLECULAR GENETICS», 2010, 19(20), pp. 4072 - 4082 [articolo]

Pagnamenta AT; Bacchelli E; de Jonge MV; Mirza G; Scerri TS; Minopoli F; Chiocchetti A; Ludwig KU; Hoffmann P; Paracchini S; Lowy E; Harold DH; Chapman JA; Klauck SM; Poustka F; Houben RH; Staal WG; Ophoff RA; O'Donovan MC; Williams J; Nöthen MM; Schulte-Körne G; Deloukas P; Ragoussis J; Bailey AJ; Maestrini E; Monaco AP; International Molecular Genetic Study Of Autism Consortium, Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia., «BIOLOGICAL PSYCHIATRY», 2010, 68(4), pp. 320 - 328 [articolo]

Noor A; Whibley A; Marshall CR; Gianakopoulos PJ; Piton A; Carson AR; Orlic-Milacic M; Lionel AC; Sato D; Pinto D; Drmic I; Noakes C; Senman L; Zhang X; Mo R; Gauthier J; Crosbie J; Pagnamenta AT; Munson J; Estes AM; Fiebig A; Franke A; Schreiber S; Stewart AF; Roberts R; McPherson R; Guter SJ; Cook EH Jr; Dawson G; Schellenberg GD; Battaglia A; Maestrini E; Autism Genome Project Consortium; Jeng L; Hutchison T; Rajcan-Separovic E; Chudley AE; Lewis SM; Liu X; Holden JJ; Fernandez B; Zwaigenbaum L; Bryson SE; Roberts W; Szatmari P; Gallagher L; Stratton MR; Gecz J; Brady AF; Schwartz CE; Schachar RJ; Monaco AP; Rouleau GA; Hui CC; Lucy Raymond F; Scherer SW; Vincent JB, Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability., «SCIENCE TRANSLATIONAL MEDICINE», 2010, 2(49), Article number: 49ra68, pp. 1 - 10 [articolo]

Pinto D; Pagnamenta AT; Klei L; Anney R; Merico D; Regan R; Conroy J; Magalhaes TR; Correia C; Abrahams BS; Almeida J; Bacchelli E; Bader GD; Bailey AJ; Baird G; Battaglia A; Berney T; Bolshakova N; Bölte S; Bolton PF; Bourgeron T; Brennan S; Brian J; Bryson SE; Carson AR; Casallo G; Casey J; Chung BH; Cochrane L; Corsello C; Crawford EL; Crossett A; Cytrynbaum C; Dawson G; de Jonge M; Delorme R; Drmic I; Duketis E; Duque F; Estes A; Farrar P; Fernandez BA; Folstein SE; Fombonne E; Freitag CM; Gilbert J; Gillberg C; Glessner JT; Goldberg J; Green A; Green J; Guter SJ; Hakonarson H; Heron EA; Hill M; Holt R; Howe JL; Hughes G; Hus V; Igliozzi R; Kim C; Klauck SM; Kolevzon A; Korvatska O; Kustanovich V; Lajonchere CM; Lamb JA; Laskawiec M; Leboyer M; Le Couteur A; Leventhal BL; Lionel AC; Liu XQ; Lord C; Lotspeich L; Lund SC; Maestrini E; Mahoney W; Mantoulan C; Marshall CR; McConachie H; McDougle CJ; McGrath J; McMahon WM; Merikangas A; Migita O; Minshew NJ; Mirza GK; Munson J; Nelson, Functional impact of global rare copy number variation in autism spectrum disorders., «NATURE», 2010, 466(7304), pp. 368 - 372 [articolo]

Maestrini E; Pagnamenta AT; Lamb JA; Bacchelli E; Sykes NH; Sousa I; Toma C; Barnby G; Butler H; Winchester L; Scerri TS; Minopoli F; Reichert J; Cai G; Buxbaum JD; Korvatska O; Schellenberg GD; Dawson G; Bildt AD; Minderaa RB; Mulder EJ; Morris AP; Bailey AJ; Monaco AP., High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility., «MOLECULAR PSYCHIATRY», 2010, Epub Apr 28 2009, pp. 1 - 15 [articolo]

Holt R; Barnby G; Maestrini E; Bacchelli E; Brocklebank D; Sousa I; Mulder EJ; Kantojärvi K; Järvelä I; Klauck SM; Poustka F; Bailey AJ; Monaco AP; EU Autism MOLGEN Consortium, Linkage and candidate gene studies of autism spectrum disorders in European populations., «EUROPEAN JOURNAL OF HUMAN GENETICS», 2010, 18(9), pp. 1013 - 1019 [articolo]

Asher JE; Lamb JA; Brocklebank D; Cazier JB; Maestrini E; Addis L; Sen M; Baron-Cohen S; Monaco AP., A whole-genome scan and fine-mapping linkage study of auditory-visual synesthesia reveals evidence of linkage to chromosomes 2q24, 5q33, 6p12, and 12p12, «AMERICAN JOURNAL OF HUMAN GENETICS», 2009, 84, pp. 279 - 285 [articolo]

Sykes NH, Toma C, Wilson N, Volpi EV, Sousa I, Pagnamenta AT, Tancredi R, Battaglia A, Maestrini E, Bailey AJ, Monaco AP; International Molecular Genetic Study of Autism Consortium (IMGSAC)., Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection., «EUROPEAN JOURNAL OF HUMAN GENETICS», 2009, 17, pp. 1347 - 1353 [articolo]

Newbury DF, Warburton PC, Wilson N, Bacchelli E, Carone S; International Molecular Genetic Study of Autism Consortium, Lamb JA, Maestrini E, Volpi EV, Mohammed S, Baird G, Monaco AP., Mapping of partially overlapping de novo deletions across an autism susceptibility region (AUTS5) in two unrelated individuals affected by developmental delays with communication impairment., «AMERICAN JOURNAL OF MEDICAL GENETICS. PART A», 2009, 149, pp. 588 - 597 [articolo]

Sousa I; Clark TG; Toma C; Kobayashi K; Choma M; Holt R; Sykes NH; Lamb JA; Bailey AJ; Battaglia A; Maestrini E; Monaco AP., MET and autism susceptibility: family and case-control studies., «EUROPEAN JOURNAL OF HUMAN GENETICS», 2009, 17, pp. 749 - 758 [articolo]

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., Analysis of X chromosome inactivation in autism spectrum disorders., «AMERICAN JOURNAL OF MEDICAL GENETICS. PART B, NEUROPSYCHIATRIC GENETICS», 2008, 147B, pp. 830 - 835 [articolo]

Liu XQ; Paterson AD; Szatmari P; Autism Genome Project Consortium [..;Maestrini E; ..], Genome-wide linkage analyses of quantitative and categorical autism subphenotypes., «BIOLOGICAL PSYCHIATRY», 2008, 64, pp. 561 - 570 [articolo]

Toma C; Rossi M; Sousa I; Blasi F; Bacchelli E; Alen R; Vanhala R; Monaco AP; Järvelä I; Maestrini E, Is ASMT a susceptibility gene for autism spectrum disorders? A replication study in European populations., «MOLECULAR PSYCHIATRY», 2007, 12, pp. 977 - 979 [articolo]

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