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Elena Bacchelli

Professoressa associata

Dipartimento di Farmacia e Biotecnologie

Settore scientifico disciplinare: BIO/18 GENETICA

Pubblicazioni

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 JB; Volkmar F; Vorstman J; Wallace S; Wing K; Wittemeyer K; Wood S; Zurawiecki D; Zwaigenbaum L; Bailey AJ; Battaglia A; Cantor RM; Coon H; Cuccaro ML; Dawson G; Ennis S; Freitag CM; Geschwind DH; Haines JL; Klauck SM; McMahon WM; Maestrini E; Miller J; Monaco AP; Nelson SF; Nurnberger JI Jr; Oliveira G; Parr JR; Pericak-Vance MA; Piven J; Schellenberg GD; Scherer SW; Vicente AM; Wassink TH; Wijsman EM; Betancur C; Buxbaum JD; Cook EH; Gallagher L; Gill M; Hallmayer J; Paterson AD; Sutcliffe JS; Szatmari P; Vieland VJ; Hakonarson H; Devlin B, 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; Oliveira G; Papanikolaou K; Parr JR; Parrini B; Paton T; Pickles A; Piven J; Posey DJ; Poustka A; Poustka F; Prasad A; Ragoussis J; Renshaw K; Rickaby J; Roberts W; Roeder K; Roge B; Rutter ML; Bierut LJ; Rice JP; Salt J; Sansom K; Sato D; Segurado R; Senman L; Shah N; Sheffield VC; Soorya L; Sousa I; Stoppioni V; Strawbridge C; Tancredi R; Tansey K; Thiruvahindrapduram B; Thompson AP; Thomson S; Tryfon A; Tsiantis J; Van Engeland H; Vincent JB; Volkmar F; Wallace S; Wang K; Wang Z; Wassink TH; Wing K; Wittemeyer K; Wood S; Yaspan BL; Zurawiecki D; Zwaigenbaum L; Betancur C; Buxbaum JD; Cantor RM; Cook EH; Coon H; Cuccaro ML; Gallagher L; Geschwind DH; Gill M; Haines JL; Miller J; Monaco AP; Nurnberger JI Jr; Paterson AD; Pericak-Vance MA; Schellenberg GD; Scherer SW; Sutcliffe JS; Szatmari P; Vicente AM; Vieland VJ; Wijsman EM; Devlin B; Ennis S; Hallmayer J., 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]

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 SF; Noakes C; Noor A; Nygren G; Oliveira G; Papanikolaou K; Parr JR; Parrini B; Paton T; Pickles A; Pilorge M; Piven J; Ponting CP; Posey DJ; Poustka A; Poustka F; Prasad A; Ragoussis J; Renshaw K; Rickaby J; Roberts W; Roeder K; Roge B; Rutter ML; Bierut LJ; Rice JP; Salt J; Sansom K; Sato D; Segurado R; Sequeira AF; Senman L; Shah N; Sheffield VC; Soorya L; Sousa I; Stein O; Sykes N; Stoppioni V; Strawbridge C; Tancredi R; Tansey K; Thiruvahindrapduram B; Thompson AP; Thomson S; Tryfon A; Tsiantis J; Van Engeland H; Vincent JB; Volkmar F; Wallace S; Wang K; Wang Z; Wassink TH; Webber C; Weksberg R; Wing K; Wittemeyer K; Wood S; Wu J; Yaspan BL; Zurawiecki D; Zwaigenbaum L; Buxbaum JD; Cantor RM; Cook EH; Coon H; Cuccaro ML; Devlin B; Ennis S; Gallagher L; Geschwind DH; Gill M; Haines JL; Hallmayer J; Miller J; Monaco AP; Nurnberger JI Jr; Paterson AD; Pericak-Vance MA; Schellenberg GD; Szatmari P; Vicente AM; Vieland VJ; Wijsman EM; Scherer SW; Sutcliffe JS; Betancur C., 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]

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]

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]

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]

Autism Genome Project Consortium; Szatmari P; Paterson AD; Zwaigenbaum L; Roberts W; Brian J; Liu XQ; Vincent JB; Skaug JL; Thompson AP; Senman L; Feuk L; Qian C; Bryson SE; Jones MB; Marshall CR; Scherer SW; Vieland VJ; Bartlett C; Mangin LV; Goedken R; Segre A; Pericak-Vance MA; Cuccaro ML; Gilbert JR; Wright HH; Abramson RK; Betancur C; Bourgeron T; Gillberg C; Leboyer M; Buxbaum JD; Davis KL; Hollander E; Silverman JM; Hallmayer J; Lotspeich L; Sutcliffe JS; Haines JL; Folstein SE; Piven J; Wassink TH; Sheffield V; Geschwind DH; Bucan M; Brown WT; Cantor RM; Constantino JN; Gilliam TC; Herbert M; Lajonchere C; Ledbetter DH; Lese-Martin C; Miller J; Nelson S; Samango-Sprouse CA; Spence S; State M; Tanzi RE; Coon H; Dawson G; Devlin B; Estes A; Flodman P; Klei L; McMahon WM; Minshew N; Munson J; Korvatska E; Rodier PM; Schellenberg GD; Smith M; Spence MA; Stodgell C; Tepper PG; Wijsman EM; Yu CE; Roge B; Mantoulan C; Wittemeyer K; Poustka A; Felder B; Klauck SM; Schuster C; Poustka F; Bolte S; Feineis-Matthews S; Herbrecht E; Schmotzer G; Tsiantis J; Papanikolaou K; Maestrini E; Bacchelli E; Blasi F; Carone S; Toma C; Van Engeland H; de Jonge M; Kemner C; Koop F; Langemeijer M; Hijimans C; Staal WG; Baird G; Bolton PF; Rutter ML; Weisblatt E; Green J; Aldred C; Wilkinson JA; Pickles A; Le Couteur A; Berney T; McConachie H; Bailey AJ; Francis K; Honeyman G; Hutchinson A; Parr JR; Wallace S; Monaco AP; Barnby G; Kobayashi K; Lamb JA; Sousa I; Sykes N; Cook EH; Guter SJ; Leventhal BL; Salt J; Lord C; Corsello C; Hus V; Weeks DE; Volkmar F; Tauber M; Fombonne E; Shih A., Mapping autism risk loci using genetic linkage and chromosomal rearrangements, «NATURE GENETICS», 2007, 39, pp. 319 - 328 [articolo]

Blasi F.; Bacchelli E.; Pesaresi G.; Carone S.; Bailey A.J.; Maestrini E., Absence of coding mutations in the X-linked genes Neuroligin 3 and Neuroligin 4 in individuals with autism from the IMGSAC collection, «AMERICAN JOURNAL OF MEDICAL GENETICS. PART B, NEUROPSYCHIATRIC GENETICS», 2006, 141, pp. 220 - 221 [articolo]

Bacchelli E.; Maestrini E., Autism spectrum disorders: molecular genetic advances, «AMERICAN JOURNAL OF MEDICAL GENETICS. PART C, SEMINARS IN MEDICAL GENETICS», 2006, 142, pp. 13 - 23 [articolo]

Blasi F.; Bacchelli E.; Carone S.; Toma C.; Monaco AP.; Bailey AJ.; Maestrini E., SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample., «EUROPEAN JOURNAL OF HUMAN GENETICS», 2006, 14, pp. 123 - 126 [articolo]

Lamb J.A.; Barnby G.; Bonora E.; Sykes N.; Bacchelli E.; Blasi F.; Maestrini E.; Broxholme J.; Tzenova J.; Weeks D.; Bailey A.J.; Monaco A.P.; International Molecular Genetic Study of Autism Consortium (IMGSAC)., Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects., «JOURNAL OF MEDICAL GENETICS», 2005, 42, pp. 132 - 137 [articolo]

Bonora E.; Lamb J.A.; Barnby G.; Sykes N.; Moberly T.; Beyer K.S.; Klauck S.M.; Poustka F.; Bacchelli E.; Blasi F.; Maestrini E.; Battaglia A.; Haracopos D.; Pedersen L.; Isager T.; Eriksen G.; Viskum B.; Sorensen E.U.; Brondum-Nielsen K.; Cotterill R.; Engeland H.; Jonge M.; Kemner C.; Steggehuis K.; Scherpenisse M.; Rutter M.; Bolton P.F.; Parr J.R.; Poustka A.; Bailey A.J.; Monaco A.P.; International Molecular Genetic Study of Austism Consortium., Mutation screening and association analysis of six candidate genes for autism on chromosome 7q., «EUROPEAN JOURNAL OF HUMAN GENETICS», 2005, 13, pp. 198 - 207 [articolo]

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