Foto del docente

Elena Maestrini

Full Professor

Department of Pharmacy and Biotechnology

Academic discipline: BIO/18 Genetics

Director of First Cycle Degree in Biotechnology

Publications

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 [Scientific article]

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 [Scientific article]

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 [Scientific article]

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 [Scientific article]

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 [Scientific article]

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 [Scientific article]

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 [Scientific article]

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 [Scientific article]

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 [Scientific article]

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 [Scientific article]

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 [Scientific article]

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 [Scientific article]

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 [Scientific article]

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 [Scientific article]

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 [Scientific article]

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