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Results: 1 to 20 of 114

1.

Direct measure of the de novo mutation rate in autism and schizophrenia cohorts.

Awadalla P, Gauthier J, Myers RA, Casals F, Hamdan FF, Griffing AR, Côté M, Henrion E, Spiegelman D, Tarabeux J, Piton A, Yang Y, Boyko A, Bustamante C, Xiong L, Rapoport JL, Addington AM, DeLisi JL, Krebs MO, Joober R, Millet B, Fombonne E, Mottron L, Zilversmit M, Keebler J, Daoud H, Marineau C, Roy-Gagnon MH, Dubé MP, Eyre-Walker A, Drapeau P, Stone EA, Lafrenière RG, Rouleau GA.

Am J Hum Genet. 2010 Sep 10;87(3):316-24. doi: 10.1016/j.ajhg.2010.07.019.

PMID:
20797689
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

A strategy to identify de novo mutations in common disorders such as autism and schizophrenia.

Julie G, Hamdan FF, Rouleau GA.

J Vis Exp. 2011 Jun 15;(52). pii: 2534. doi: 10.3791/2534.

PMID:
21712793
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

De novo truncating mutation in Kinesin 17 associated with schizophrenia.

Tarabeux J, Champagne N, Brustein E, Hamdan FF, Gauthier J, Lapointe M, Maios C, Piton A, Spiegelman D, Henrion E; Synapse to Disease Team, Millet B, Rapoport JL, Delisi LE, Joober R, Fathalli F, Fombonne E, Mottron L, Forget-Dubois N, Boivin M, Michaud JL, Lafrenière RG, Drapeau P, Krebs MO, Rouleau GA.

Biol Psychiatry. 2010 Oct 1;68(7):649-56. doi: 10.1016/j.biopsych.2010.04.018. Epub 2010 Jun 19.

PMID:
20646681
[PubMed - indexed for MEDLINE]
4.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

Pediatrics. 2004 May;113(5):e472-86. Review.

PMID:
15121991
[PubMed - indexed for MEDLINE]
5.

Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia.

Tarabeux J, Kebir O, Gauthier J, Hamdan FF, Xiong L, Piton A, Spiegelman D, Henrion É, Millet B; S2D team, Fathalli F, Joober R, Rapoport JL, DeLisi LE, Fombonne É, Mottron L, Forget-Dubois N, Boivin M, Michaud JL, Drapeau P, Lafrenière RG, Rouleau GA, Krebs MO.

Transl Psychiatry. 2011 Nov 15;1:e55. doi: 10.1038/tp.2011.52.

PMID:
22833210
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Novel de novo SHANK3 mutation in autistic patients.

Gauthier J, Spiegelman D, Piton A, Lafrenière RG, Laurent S, St-Onge J, Lapointe L, Hamdan FF, Cossette P, Mottron L, Fombonne E, Joober R, Marineau C, Drapeau P, Rouleau GA.

Am J Med Genet B Neuropsychiatr Genet. 2009 Apr 5;150B(3):421-4. doi: 10.1002/ajmg.b.30822.

PMID:
18615476
[PubMed - indexed for MEDLINE]
7.

De novo rates and selection of large copy number variation.

Itsara A, Wu H, Smith JD, Nickerson DA, Romieu I, London SJ, Eichler EE.

Genome Res. 2010 Nov;20(11):1469-81. doi: 10.1101/gr.107680.110. Epub 2010 Sep 14.

PMID:
20841430
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia.

Gauthier J, Siddiqui TJ, Huashan P, Yokomaku D, Hamdan FF, Champagne N, Lapointe M, Spiegelman D, Noreau A, Lafrenière RG, Fathalli F, Joober R, Krebs MO, DeLisi LE, Mottron L, Fombonne E, Michaud JL, Drapeau P, Carbonetto S, Craig AM, Rouleau GA.

Hum Genet. 2011 Oct;130(4):563-73. doi: 10.1007/s00439-011-0975-z. Epub 2011 Mar 22.

PMID:
21424692
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Increased exonic de novo mutation rate in individuals with schizophrenia.

Girard SL, Gauthier J, Noreau A, Xiong L, Zhou S, Jouan L, Dionne-Laporte A, Spiegelman D, Henrion E, Diallo O, Thibodeau P, Bachand I, Bao JY, Tong AH, Lin CH, Millet B, Jaafari N, Joober R, Dion PA, Lok S, Krebs MO, Rouleau GA.

Nat Genet. 2011 Jul 10;43(9):860-3. doi: 10.1038/ng.886.

PMID:
21743468
[PubMed - indexed for MEDLINE]
10.

Patterns and rates of exonic de novo mutations in autism spectrum disorders.

Neale BM, Kou Y, Liu L, Ma'ayan A, Samocha KE, Sabo A, Lin CF, Stevens C, Wang LS, Makarov V, Polak P, Yoon S, Maguire J, Crawford EL, Campbell NG, Geller ET, Valladares O, Schafer C, Liu H, Zhao T, Cai G, Lihm J, Dannenfelser R, Jabado O, Peralta Z, Nagaswamy U, Muzny D, Reid JG, Newsham I, Wu Y, Lewis L, Han Y, Voight BF, Lim E, Rossin E, Kirby A, Flannick J, Fromer M, Shakir K, Fennell T, Garimella K, Banks E, Poplin R, Gabriel S, DePristo M, Wimbish JR, Boone BE, Levy SE, Betancur C, Sunyaev S, Boerwinkle E, Buxbaum JD, Cook EH Jr, Devlin B, Gibbs RA, Roeder K, Schellenberg GD, Sutcliffe JS, Daly MJ.

Nature. 2012 Apr 4;485(7397):242-5. doi: 10.1038/nature11011.

PMID:
22495311
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Interpreting the role of de novo protein-coding mutations in neuropsychiatric disease.

Gratten J, Visscher PM, Mowry BJ, Wray NR.

Nat Genet. 2013 Mar;45(3):234-8. doi: 10.1038/ng.2555.

PMID:
23438595
[PubMed - indexed for MEDLINE]
12.

Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.

Piton A, Gauthier J, Hamdan FF, Lafrenière RG, Yang Y, Henrion E, Laurent S, Noreau A, Thibodeau P, Karemera L, Spiegelman D, Kuku F, Duguay J, Destroismaisons L, Jolivet P, Côté M, Lachapelle K, Diallo O, Raymond A, Marineau C, Champagne N, Xiong L, Gaspar C, Rivière JB, Tarabeux J, Cossette P, Krebs MO, Rapoport JL, Addington A, Delisi LE, Mottron L, Joober R, Fombonne E, Drapeau P, Rouleau GA.

Mol Psychiatry. 2011 Aug;16(8):867-80. doi: 10.1038/mp.2010.54. Epub 2010 May 18.

PMID:
20479760
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Autism and nonsyndromic mental retardation associated with a de novo mutation in the NLGN4X gene promoter causing an increased expression level.

Daoud H, Bonnet-Brilhault F, Védrine S, Demattéi MV, Vourc'h P, Bayou N, Andres CR, Barthélémy C, Laumonnier F, Briault S.

Biol Psychiatry. 2009 Nov 15;66(10):906-10. doi: 10.1016/j.biopsych.2009.05.008. Epub 2009 Jul 9.

PMID:
19545860
[PubMed - indexed for MEDLINE]
14.

Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders.

Bakkaloglu B, O'Roak BJ, Louvi A, Gupta AR, Abelson JF, Morgan TM, Chawarska K, Klin A, Ercan-Sencicek AG, Stillman AA, Tanriover G, Abrahams BS, Duvall JA, Robbins EM, Geschwind DH, Biederer T, Gunel M, Lifton RP, State MW.

Am J Hum Genet. 2008 Jan;82(1):165-73. doi: 10.1016/j.ajhg.2007.09.017.

PMID:
18179895
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.

Hamdan FF, Gauthier J, Araki Y, Lin DT, Yoshizawa Y, Higashi K, Park AR, Spiegelman D, Dobrzeniecka S, Piton A, Tomitori H, Daoud H, Massicotte C, Henrion E, Diallo O; S2D Group, Shekarabi M, Marineau C, Shevell M, Maranda B, Mitchell G, Nadeau A, D'Anjou G, Vanasse M, Srour M, Lafrenière RG, Drapeau P, Lacaille JC, Kim E, Lee JR, Igarashi K, Huganir RL, Rouleau GA, Michaud JL.

Am J Hum Genet. 2011 Mar 11;88(3):306-16. doi: 10.1016/j.ajhg.2011.02.001. Epub 2011 Mar 3. Erratum in: Am J Hum Genet. 2011 Apr 8;88(4):516.

PMID:
21376300
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism.

Kumar RA, Sudi J, Babatz TD, Brune CW, Oswald D, Yen M, Nowak NJ, Cook EH, Christian SL, Dobyns WB.

J Med Genet. 2010 Feb;47(2):81-90. doi: 10.1136/jmg.2008.065821. Epub 2009 Jun 21.

PMID:
19546099
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

A unified theory of autism revisited: linkage evidence points to chromosome X using a high-risk subset of AGRE families.

Allen-Brady K, Cannon D, Robison R, McMahon WM, Coon H.

Autism Res. 2010 Apr;3(2):47-52. doi: 10.1002/aur.119.

PMID:
20437600
[PubMed - indexed for MEDLINE]
18.

The NRG1 exon 11 missense variant is not associated with autism in the Central Valley of Costa Rica.

McInnes LA, Ouchanov L, Nakamine A, Jimenez P, Esquivel M, Fallas M, Monge S, Bondy P, Manghi ER.

BMC Psychiatry. 2007 May 22;7:21.

PMID:
17519028
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
[PubMed - indexed for MEDLINE]
20.

MECP2 structural and 3'-UTR variants in schizophrenia, autism and other psychiatric diseases: a possible association with autism.

Shibayama A, Cook EH Jr, Feng J, Glanzmann C, Yan J, Craddock N, Jones IR, Goldman D, Heston LL, Sommer SS.

Am J Med Genet B Neuropsychiatr Genet. 2004 Jul 1;128B(1):50-3.

PMID:
15211631
[PubMed - indexed for MEDLINE]

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