Sfoglia per Autore  

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Mostrati risultati da 1 a 20 di 48
Titolo Autore(i) Anno Periodico Editore Tipo File
Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region Bonora E.; Bacchelli E.; Levy E.R.; Blasi F.; Marlow A.; Monaco A.P.; Maestrini E. 2002-01-01 MOLECULAR PSYCHIATRY - 1.01 Articolo in rivista -
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 J.A.; Bonora E.; Barnby G.; Parr J.; Beyer K.S.; Kla...uck S.M.; Poustka A.; Bailey A.J.; Monaco A.P.; Maestrini E. 2003-01-01 MOLECULAR PSYCHIATRY - 1.01 Articolo in rivista -
DNA variants in the human RAB3A gene are not associated with autism. D'Adamo P.; Bacchelli E.; Blasi F.; Lipp H.P.; Toniolo D.; Maestrini E. 2004-01-01 GENES BRAIN AND BEHAVIOR - 1.01 Articolo in rivista -
Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects. Lamb J.A.; Barnby G.; Bonora E.; Sykes N.; Bacchelli E.; Blasi F.; Maestrini E.; Broxholme J.; Tz...enova J.; Weeks D.; Bailey A.J.; Monaco A.P.; International Molecular Genetic Study of Autism Consortium (IMGSAC). 2005-01-01 JOURNAL OF MEDICAL GENETICS - 1.01 Articolo in rivista -
Mutation screening and association analysis of six candidate genes for autism on chromosome 7q. Bonora E.; Lamb J.A.; Barnby G.; Sykes N.; Moberly T.; Beyer K.S.; Klauck S.M.; Poustka F.; Bacch...elli 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. 2005-01-01 EUROPEAN JOURNAL OF HUMAN GENETICS - 1.01 Articolo in rivista -
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 A.J.; Maestrini E. 2006-01-01 AMERICAN JOURNAL OF MEDICAL GENETICS. PART B, NEUROPSYCHIATRIC GENETICS - 1.01 Articolo in rivista -
Autism spectrum disorders: molecular genetic advances Bacchelli E.; Maestrini E. 2006-01-01 AMERICAN JOURNAL OF MEDICAL GENETICS. PART C, SEMINARS IN MEDICAL GENETICS - 1.01 Articolo in rivista -
SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample. Blasi F.; Bacchelli E.; Carone S.; Toma C.; Monaco AP.; Bailey AJ.; Maestrini E. 2006-01-01 EUROPEAN JOURNAL OF HUMAN GENETICS - 1.01 Articolo in rivista -
Is ASMT a susceptibility gene for autism spectrum disorders? A replication study in European populations. Toma C; Rossi M; Sousa I; Blasi F; Bacchelli E; Alen R; Vanhala R; Monaco AP; Järvelä I; Maestrini E 2007-01-01 MOLECULAR PSYCHIATRY - 1.01 Articolo in rivista -
Mapping autism risk loci using genetic linkage and chromosomal rearrangements 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. 2007-01-01 NATURE GENETICS - 1.01 Articolo in rivista -
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; B...otros 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. 2008-01-01 AMERICAN JOURNAL OF MEDICAL GENETICS. PART B, NEUROPSYCHIATRIC GENETICS - 1.01 Articolo in rivista -
Mapping of partially overlapping de novo deletions across an autism susceptibility region (AUTS5) in two unrelated individuals affected by developmental delays with communication impairment. 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. 2009-01-01 AMERICAN JOURNAL OF MEDICAL GENETICS. PART A - 1.01 Articolo in rivista -
A genome-wide scan for common alleles affecting risk for autism. Anney R; Klei L; Pinto D; Regan R; Conroy J; Magalhaes TR; Correia C; Abrahams BS; Sykes N; Pagna...menta 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. 2010-01-01 HUMAN MOLECULAR GENETICS - 1.01 Articolo in rivista -
Linkage and candidate gene studies of autism spectrum disorders in European populations. Holt R; Barnby G; Maestrini E; Bacchelli E; Brocklebank D; Sousa I; Mulder EJ; Kantojärvi K; Järv...elä I; Klauck SM; Poustka F; Bailey AJ; Monaco AP; EU Autism MOLGEN Consortium 2010-01-01 EUROPEAN JOURNAL OF HUMAN GENETICS - 1.01 Articolo in rivista -
Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia. 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 2010-01-01 BIOLOGICAL PSYCHIATRY - 1.01 Articolo in rivista -
Functional impact of global rare copy number variation in autism spectrum disorders. Pinto D; Pagnamenta AT; Klei L; Anney R; Merico D; Regan R; Conroy J; Magalhaes TR; Correia C; Ab...rahams 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. 2010-01-01 NATURE - 1.01 Articolo in rivista -
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. 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. 2010-01-01 MOLECULAR PSYCHIATRY - 1.01 Articolo in rivista -
Individual common variants exert weak effects on the risk for autism spectrum disorders. Anney R; Klei L; Pinto D; Almeida J; Bacchelli E; Baird G; Bolshakova N; Bölte S; Bolton PF; Bour...geron 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 2012-01-01 HUMAN MOLECULAR GENETICS - 1.01 Articolo in rivista -
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. Casey JP; Magalhaes T; Conroy JM; Regan R; Shah N; Anney R; Shields DC; Abrahams BS; Almeida J; B...acchelli E; Bailey AJ; Baird G; Battaglia A; Berney T; Bolshakova N; Bolton PF; Bourgeron T; Brennan S; Cali P; Correia C; Corsello C; Coutanche M; Dawson G; de Jonge M; Delorme R; Duketis E; Duque F; Estes A; Farrar P; Fernandez BA; Folstein SE; Foley S; Fombonne E; Freitag CM; Gilbert J; Gillberg C; Glessner JT; Green J; Guter SJ; Hakonarson H; Holt R; Hughes G; Hus V; Igliozzi R; Kim C; Klauck SM; Kolevzon A; Lamb JA; Leboyer M; Le Couteur A; Leventhal BL; Lord C; Lund SC; Maestrini E; Mantoulan C; Marshall CR; McConachie H; McDougle CJ; McGrath J; McMahon WM; Merikangas A; Miller J; Minopoli F; Mirza GK; Munson J; Nelson SF; Nygren G; Oliveira G; Pagnamenta AT; Papanikolaou K; Parr JR; Parrini B; Pickles A; Pinto D; Piven J; Posey DJ; Poustka A; Poustka F; Ragoussis J; Roge B; Rutter ML; Sequeira AF; Soorya L; Sousa I; Sykes N; Stoppioni V; Tancredi R; Tauber M; Thompson AP; Thomson S; Tsiantis J; Van Engeland H; Vincent JB; Volkmar F; Vorstman JA; Wallace S; Wang K; Wassink TH; White K; Wing K; Wittemeyer K; Yaspan BL; Zwaigenbaum L; Betancur C; Buxbaum JD; Cantor RM; Cook EH; Coon H; Cuccaro ML; Geschwind DH; Haines JL; Hallmayer J; Monaco AP; Nurnberger JI Jr; Pericak-Vance MA; Schellenberg GD; Scherer SW; Sutcliffe JS; Szatmari P; Vieland VJ; Wijsman EM; Green A; Gill M; Gallagher L; Vicente A; Ennis S. 2012-01-01 HUMAN GENETICS - 1.01 Articolo in rivista -
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. 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. 2012-01-01 PLOS GENETICS - 1.01 Articolo in rivista -
Mostrati risultati da 1 a 20 di 48
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