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Page 1
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Pinto D, Delaby E, Merico D, Barbosa M, Merikangas A, Klei L, Thiruvahindrapuram B, Xu X, Ziman R, Wang Z, Vorstman JA, Thompson A, Regan R, Pilorge M, Pellecchia G, Pagnamenta AT, Oliveira B, Marshall CR, Magalhaes TR, Lowe JK, Howe JL, Griswold AJ, Gilbert J, Duketis E, Dombroski BA, De Jonge MV, Cuccaro M, Crawford EL, Correia CT, Conroy J, Conceição IC, Chiocchetti AG, Casey JP, Cai G, Cabrol C, Bolshakova N, Bacchelli E, Anney R, Gallinger S, Cotterchio M, Casey G, Zwaigenbaum L, Wittemeyer K, Wing K, Wallace S, van Engeland H, Tryfon A, Thomson S, Soorya L, Rogé B, Roberts W, Poustka F, Mouga S, Minshew N, McInnes LA, McGrew SG, Lord C, Leboyer M, Le Couteur AS, Kolevzon A, Jiménez González P, Jacob S, Holt R, Guter S, Green J, Green A, Gillberg C, Fernandez BA, Duque F, Delorme R, Dawson G, Chaste P, Café C, Brennan S, Bourgeron T, Bolton PF, Bölte S, Bernier R, Baird G, Bailey AJ, Anagnostou E, Almeida J, Wijsman EM, Vieland VJ, Vicente AM, Schellenberg GD, Pericak-Vance M, Paterson AD, Parr JR, Oliveira G, Nurnberger JI, Monaco AP, Maestrini E, Klauck SM, Hakonarson H, Haines JL, Geschwind DH, Freitag CM, Folstein SE, Ennis S, Coon H, Battaglia A, Szatmari P, Sutcl… See abstract for full author list ➔ Pinto D, et al. Among authors: gilbert j. Am J Hum Genet. 2014 May 1;94(5):677-94. doi: 10.1016/j.ajhg.2014.03.018. Epub 2014 Apr 24. Am J Hum Genet. 2014. PMID: 24768552 Free PMC article.
Linkage studies in facioscapulohumeral muscular dystrophy (FSHD).
Gilbert JR, Stajich JM, Speer MC, Vance JM, Stewart CS, Yamaoka LH, Samson F, Fardeau M, Potter TG, Roses AD, et al. Gilbert JR, et al. Am J Hum Genet. 1992 Aug;51(2):424-7. Am J Hum Genet. 1992. PMID: 1642241 Free PMC article.
A de novo frame-shift mutation in the tuberin gene.
Kumar A, Wolpert C, Kandt RS, Segal J, Pufky J, Roses AD, Pericak-Vance MA, Gilbert JR. Kumar A, et al. Among authors: gilbert jr. Hum Mol Genet. 1995 Aug;4(8):1471-2. doi: 10.1093/hmg/4.8.1471. Hum Mol Genet. 1995. PMID: 7581393 No abstract available.
Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37.
Speer MC, Tandan R, Rao PN, Fries T, Stajich JM, Bolhuis PA, Jöbsis GJ, Vance JM, Viles KD, Sheffield K, James C, Kahler SG, Pettenati M, Gilbert JR, Denton PH, Yamaoka LH, Pericak-Vance MA. Speer MC, et al. Among authors: gilbert jr. Hum Mol Genet. 1996 Jul;5(7):1043-6. doi: 10.1093/hmg/5.7.1043. Hum Mol Genet. 1996. PMID: 8817344
A novel splice site mutation (156 + 1G-->A) in the TSC2 gene.
Kumar A, Kandt RS, Wolpert C, Roses AD, Pericak-Vance MA, Gilbert JR. Kumar A, et al. Among authors: gilbert jr. Hum Mutat. 1997;9(1):64-5. doi: 10.1002/(SICI)1098-1004(1997)9:1<64::AID-HUMU12>3.0.CO;2-N. Hum Mutat. 1997. PMID: 8990012 No abstract available.
Analysis of linkage disequilibrium in gamma-aminobutyric acid receptor subunit genes in autistic disorder.
Martin ER, Menold MM, Wolpert CM, Bass MP, Donnelly SL, Ravan SA, Zimmerman A, Gilbert JR, Vance JM, Maddox LO, Wright HH, Abramson RK, DeLong GR, Cuccaro ML, Pericak-Vance MA. Martin ER, et al. Among authors: gilbert jr. Am J Med Genet. 2000 Feb 7;96(1):43-8. doi: 10.1002/(sici)1096-8628(20000207)96:1<43::aid-ajmg9>3.0.co;2-3. Am J Med Genet. 2000. PMID: 10686550
3,359 results