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Items: 1 to 20 of 103

1.

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.

Durand CM, Betancur C, Boeckers TM, Bockmann J, Chaste P, Fauchereau F, Nygren G, Rastam M, Gillberg IC, Anckarsäter H, Sponheim E, Goubran-Botros H, Delorme R, Chabane N, Mouren-Simeoni MC, de Mas P, Bieth E, Rogé B, Héron D, Burglen L, Gillberg C, Leboyer M, Bourgeron T.

Nat Genet. 2007 Jan;39(1):25-7. Epub 2006 Dec 17.

2.

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism.

Jamain S, Quach H, Betancur C, Råstam M, Colineaux C, Gillberg IC, Soderstrom H, Giros B, Leboyer M, Gillberg C, Bourgeron T; Paris Autism Research International Sibpair Study.

Nat Genet. 2003 May;34(1):27-9.

3.

Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection.

Sykes NH, Toma C, Wilson N, Volpi EV, Sousa I, Pagnamenta AT, Tancredi R, Battaglia A, Maestrini E, Bailey AJ, Monaco AP; International Molecular Genetic Study of Autism Consortium (IMGSAC).

Eur J Hum Genet. 2009 Oct;17(10):1347-53. doi: 10.1038/ejhg.2009.47. Epub 2009 Apr 22.

4.

Association study of SHANK3 gene polymorphisms with autism in Chinese Han population.

Qin J, Jia M, Wang L, Lu T, Ruan Y, Liu J, Guo Y, Zhang J, Yang X, Yue W, Zhang D.

BMC Med Genet. 2009 Jun 30;10:61. doi: 10.1186/1471-2350-10-61.

5.

[Autism: more evidence of a genetic cause].

Bourgeron T, Leboyer M, Delorme R.

Bull Acad Natl Med. 2009 Feb;193(2):299-304; discussion 304-5. French.

PMID:
19718887
6.

Contribution of SHANK3 mutations to autism spectrum disorder.

Moessner R, Marshall CR, Sutcliffe JS, Skaug J, Pinto D, Vincent J, Zwaigenbaum L, Fernandez B, Roberts W, Szatmari P, Scherer SW.

Am J Hum Genet. 2007 Dec;81(6):1289-97. Epub 2007 Oct 16.

7.

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
8.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

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

PMID:
15121991
9.

SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism.

Durand CM, Perroy J, Loll F, Perrais D, Fagni L, Bourgeron T, Montcouquiol M, Sans N.

Mol Psychiatry. 2012 Jan;17(1):71-84. doi: 10.1038/mp.2011.57. Epub 2011 May 24.

10.

Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome).

Sarasua SM, Dwivedi A, Boccuto L, Rollins JD, Chen CF, Rogers RC, Phelan K, DuPont BR, Collins JS.

J Med Genet. 2011 Nov;48(11):761-6. doi: 10.1136/jmedgenet-2011-100225. Epub 2011 Oct 7.

PMID:
21984749
11.

Mutations in the gene encoding CADM1 are associated with autism spectrum disorder.

Zhiling Y, Fujita E, Tanabe Y, Yamagata T, Momoi T, Momoi MY.

Biochem Biophys Res Commun. 2008 Dec 19;377(3):926-9. doi: 10.1016/j.bbrc.2008.10.107. Epub 2008 Oct 26.

PMID:
18957284
12.

Association study of the CNS patterning genes and autism in Han Chinese in Taiwan.

Chien YL, Wu YY, Chiu YN, Liu SK, Tsai WC, Lin PI, Chen CH, Gau SS, Chien WH.

Prog Neuropsychopharmacol Biol Psychiatry. 2011 Aug 1;35(6):1512-7. doi: 10.1016/j.pnpbp.2011.04.010. Epub 2011 May 5.

PMID:
21575668
13.

Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism.

Talebizadeh Z, Lam DY, Theodoro MF, Bittel DC, Lushington GH, Butler MG.

J Med Genet. 2006 May;43(5):e21.

14.

Mutation screening of X-chromosomal neuroligin genes: no mutations in 196 autism probands.

Vincent JB, Kolozsvari D, Roberts WS, Bolton PF, Gurling HM, Scherer SW.

Am J Med Genet B Neuropsychiatr Genet. 2004 Aug 15;129B(1):82-4.

PMID:
15274046
15.

Copy number and sequence variants implicate APBA2 as an autism candidate gene.

Babatz TD, Kumar RA, Sudi J, Dobyns WB, Christian SL.

Autism Res. 2009 Dec;2(6):359-64. doi: 10.1002/aur.107.

PMID:
20029827
16.

Analysis of the genes encoding neuroligins NLGN3 and NLGN4 in Bulgarian patients with autism.

Avdjieva-Tzavella DM, Todorov TP, Todorova AP, Kirov AV, Hadjidekova SP, Rukova BB, Litvinenko IO, Hristova-Naydenova DN, Tincheva RS, Toncheva DI.

Genet Couns. 2012;23(4):505-11.

PMID:
23431752
17.

The possible interplay of synaptic and clock genes in autism spectrum disorders.

Bourgeron T.

Cold Spring Harb Symp Quant Biol. 2007;72:645-54. doi: 10.1101/sqb.2007.72.020. Review.

PMID:
18419324
18.

No evidence for involvement of genetic variants in the X-linked neuroligin genes NLGN3 and NLGN4X in probands with autism spectrum disorder on high functioning level.

Wermter AK, Kamp-Becker I, Strauch K, Schulte-Körne G, Remschmidt H.

Am J Med Genet B Neuropsychiatr Genet. 2008 Jun 5;147B(4):535-7. doi: 10.1002/ajmg.b.30618.

PMID:
18189281
19.

Analysis of four neuroligin genes as candidates for autism.

Ylisaukko-oja T, Rehnström K, Auranen M, Vanhala R, Alen R, Kempas E, Ellonen P, Turunen JA, Makkonen I, Riikonen R, Nieminen-von Wendt T, von Wendt L, Peltonen L, Järvelä I.

Eur J Hum Genet. 2005 Dec;13(12):1285-92.

20.

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