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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, 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, Rensha… See abstract for full author list ➔ Pinto D, et al. Among authors: gilbert j. Nature. 2010 Jul 15;466(7304):368-72. doi: 10.1038/nature09146. Epub 2010 Jun 9. Nature. 2010. PMID: 20531469 Free PMC article.
Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families.
Nurmi EL, Bradford Y, Chen Y, Hall J, Arnone B, Gardiner MB, Hutcheson HB, Gilbert JR, Pericak-Vance MA, Copeland-Yates SA, Michaelis RC, Wassink TH, Santangelo SL, Sheffield VC, Piven J, Folstein SE, Haines JL, Sutcliffe JS. Nurmi EL, et al. Among authors: gilbert jr. Genomics. 2001 Sep;77(1-2):105-13. doi: 10.1006/geno.2001.6617. Genomics. 2001. PMID: 11543639
Genomic screen and follow-up analysis for autistic disorder.
Shao Y, Wolpert CM, Raiford KL, Menold MM, Donnelly SL, Ravan SA, Bass MP, McClain C, von Wendt L, Vance JM, Abramson RH, Wright HH, Ashley-Koch A, Gilbert JR, DeLong RG, Cuccaro ML, Pericak-Vance MA. Shao Y, et al. Am J Med Genet. 2002 Jan 8;114(1):99-105. doi: 10.1002/ajmg.10153. Am J Med Genet. 2002. PMID: 11840513
The Q7R Saitohin gene polymorphism is not associated with Alzheimer disease.
Oliveira SA, Martin ER, Scott WK, Nicodemus KK, Small GW, Schmechel DE, Doraiswamy PM, Roses AD, Saunders AM, Gilbert JR, Haines JL, Vance JM, Pericak-Vance MA. Oliveira SA, et al. Neurosci Lett. 2003 Aug 28;347(3):143-6. doi: 10.1016/s0304-3940(03)00670-0. Neurosci Lett. 2003. PMID: 12875906
3,354 results