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309 results

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Page 1
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. Among authors: poustka a, poustka f. Eur J Hum Genet. 2005 Feb;13(2):198-207. doi: 10.1038/sj.ejhg.5201315. Eur J Hum Genet. 2005. PMID: 15523497
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, Järvelä I, Klauck SM, Poustka F, Bailey AJ, Monaco AP; EU Autism MOLGEN Consortium. Holt R, et al. Eur J Hum Genet. 2010 Sep;18(9):1013-9. doi: 10.1038/ejhg.2010.69. Epub 2010 May 5. Eur J Hum Genet. 2010. PMID: 20442744 Free PMC article.
A 15q13.3 microdeletion segregating with autism.
Pagnamenta AT, Wing K, Sadighi Akha E, Knight SJ, Bölte S, Schmötzer G, Duketis E, Poustka F, Klauck SM, Poustka A, Ragoussis J, Bailey AJ, Monaco AP; International Molecular Genetic Study of Autism Consortium. Pagnamenta AT, et al. Among authors: poustka a, poustka f. Eur J Hum Genet. 2009 May;17(5):687-92. doi: 10.1038/ejhg.2008.228. Epub 2008 Dec 3. Eur J Hum Genet. 2009. PMID: 19050728 Free PMC article.
Analysis of reelin as a candidate gene for autism.
Bonora E, Beyer KS, Lamb JA, Parr JR, Klauck SM, Benner A, Paolucci M, Abbott A, Ragoussis I, Poustka A, Bailey AJ, Monaco AP; International Molecular Genetic Study of Autism (IMGSAC). Bonora E, et al. Among authors: poustka a. Mol Psychiatry. 2003 Oct;8(10):885-92. doi: 10.1038/sj.mp.4001310. Mol Psychiatry. 2003. PMID: 14515139
Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders.
Anney RJ, Kenny EM, O'Dushlaine C, Yaspan BL, Parkhomenka E, Buxbaum JD, Sutcliffe J, Gill M, Gallagher L; Autism Genome Project; Buxbaum JD, Sutcliffe J, Gill M, Gallagher L. Anney RJ, et al. Eur J Hum Genet. 2011 Oct;19(10):1082-9. doi: 10.1038/ejhg.2011.75. Epub 2011 Apr 27. Eur J Hum Genet. 2011. PMID: 21522181 Free PMC article.
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, Bacchelli 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… See abstract for full author list ➔ Casey JP, et al. Among authors: poustka a, poustka f. Hum Genet. 2012 Apr;131(4):565-79. doi: 10.1007/s00439-011-1094-6. Epub 2011 Oct 14. Hum Genet. 2012. PMID: 21996756 Free PMC article.
Mutation analysis of the coding sequence of the MECP2 gene in infantile autism.
Beyer KS, Blasi F, Bacchelli E, Klauck SM, Maestrini E, Poustka A; International Molecular Genetic Study of Autism Consortium (IMGSAC). Beyer KS, et al. Among authors: poustka a. Hum Genet. 2002 Oct;111(4-5):305-9. doi: 10.1007/s00439-002-0786-3. Epub 2002 Aug 14. Hum Genet. 2002. PMID: 12384770
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: poustka a. Mol Psychiatry. 2003 Nov;8(11):916-24. doi: 10.1038/sj.mp.4001340. Mol Psychiatry. 2003. PMID: 14593429
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, 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 … See abstract for full author list ➔ Anney R, et al. Among authors: poustka a, poustka f. Hum Mol Genet. 2010 Oct 15;19(20):4072-82. doi: 10.1093/hmg/ddq307. Epub 2010 Jul 27. Hum Mol Genet. 2010. PMID: 20663923 Free PMC article.
309 results