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Items: 1 to 20 of 145

1.

Recent developments in the genetics of autism spectrum disorders.

Murdoch JD, State MW.

Curr Opin Genet Dev. 2013 Jun;23(3):310-5. doi: 10.1016/j.gde.2013.02.003. Epub 2013 Mar 25. Review.

PMID:
23537858
2.

Autism and social cognition in epilepsy: implications for comprehensive epilepsy care.

Tuchman R.

Curr Opin Neurol. 2013 Apr;26(2):214-8. doi: 10.1097/WCO.0b013e32835ee64f. Review.

PMID:
23400237
3.

Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting.

Betancur C.

Brain Res. 2011 Mar 22;1380:42-77. doi: 10.1016/j.brainres.2010.11.078. Epub 2010 Dec 1. Review.

4.

Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders.

van Harssel JJ, Weckhuysen S, van Kempen MJ, Hardies K, Verbeek NE, de Kovel CG, Gunning WB, van Daalen E, de Jonge MV, Jansen AC, Vermeulen RJ, Arts WF, Verhelst H, Fogarasi A, de Rijk-van Andel JF, Kelemen A, Lindhout D, De Jonghe P, Koeleman BP, Suls A, Brilstra EH.

Neurogenetics. 2013 Feb;14(1):23-34. doi: 10.1007/s10048-013-0353-1. Epub 2013 Jan 20.

PMID:
23334464
5.

Longitudinal follow-up of autism spectrum features and sensory behaviors in Angelman syndrome by deletion class.

Peters SU, Horowitz L, Barbieri-Welge R, Taylor JL, Hundley RJ.

J Child Psychol Psychiatry. 2012 Feb;53(2):152-9. doi: 10.1111/j.1469-7610.2011.02455.x. Epub 2011 Aug 10.

PMID:
21831244
6.

Autism genetics.

Persico AM, Napolioni V.

Behav Brain Res. 2013 Aug 15;251:95-112. doi: 10.1016/j.bbr.2013.06.012. Epub 2013 Jun 13. Review.

PMID:
23769996
7.

Interaction of neurodevelopmental pathways and synaptic plasticity in mental retardation, autism spectrum disorder and schizophrenia: implications for psychiatry.

Waltereit R, Banaschewski T, Meyer-Lindenberg A, Poustka L.

World J Biol Psychiatry. 2014 Sep;15(7):507-16. doi: 10.3109/15622975.2013.838641. Epub 2013 Sep 30. Review.

PMID:
24079538
8.

[Genetic, environmental, and epigenetic contribution to the susceptibility to autism spectrum disorders].

Díaz-Anzaldúa A, Díaz-Martínez A.

Rev Neurol. 2013 Dec 16;57(12):556-68. Review. Spanish.

PMID:
24288105
9.

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.

10.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

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

PMID:
15121991
11.

Microdeletion syndromes.

Carvill GL, Mefford HC.

Curr Opin Genet Dev. 2013 Jun;23(3):232-9. doi: 10.1016/j.gde.2013.03.004. Epub 2013 May 9. Review.

PMID:
23664828
12.

Autism with seizures and intellectual disability: possible causative role of gain-of-function of the inwardly-rectifying K+ channel Kir4.1.

Sicca F, Imbrici P, D'Adamo MC, Moro F, Bonatti F, Brovedani P, Grottesi A, Guerrini R, Masi G, Santorelli FM, Pessia M.

Neurobiol Dis. 2011 Jul;43(1):239-47. doi: 10.1016/j.nbd.2011.03.016. Epub 2011 Mar 31.

PMID:
21458570
13.

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.

Berkel S, Marshall CR, Weiss B, Howe J, Roeth R, Moog U, Endris V, Roberts W, Szatmari P, Pinto D, Bonin M, Riess A, Engels H, Sprengel R, Scherer SW, Rappold GA.

Nat Genet. 2010 Jun;42(6):489-91. doi: 10.1038/ng.589. Epub 2010 May 16.

PMID:
20473310
14.

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.

Talkowski ME, Mullegama SV, Rosenfeld JA, van Bon BW, Shen Y, Repnikova EA, Gastier-Foster J, Thrush DL, Kathiresan S, Ruderfer DM, Chiang C, Hanscom C, Ernst C, Lindgren AM, Morton CC, An Y, Astbury C, Brueton LA, Lichtenbelt KD, Ades LC, Fichera M, Romano C, Innis JW, Williams CA, Bartholomew D, Van Allen MI, Parikh A, Zhang L, Wu BL, Pyatt RE, Schwartz S, Shaffer LG, de Vries BB, Gusella JF, Elsea SH.

Am J Hum Genet. 2011 Oct 7;89(4):551-63. doi: 10.1016/j.ajhg.2011.09.011.

15.

De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment.

Hamdan FF, Daoud H, Rochefort D, Piton A, Gauthier J, Langlois M, Foomani G, Dobrzeniecka S, Krebs MO, Joober R, Lafrenière RG, Lacaille JC, Mottron L, Drapeau P, Beauchamp MH, Phillips MS, Fombonne E, Rouleau GA, Michaud JL.

Am J Hum Genet. 2010 Nov 12;87(5):671-8. doi: 10.1016/j.ajhg.2010.09.017. Epub 2010 Oct 14.

16.

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.

Leblond CS, Nava C, Polge A, Gauthier J, Huguet G, Lumbroso S, Giuliano F, Stordeur C, Depienne C, Mouzat K, Pinto D, Howe J, Lemière N, Durand CM, Guibert J, Ey E, Toro R, Peyre H, Mathieu A, Amsellem F, Rastam M, Gillberg IC, Rappold GA, Holt R, Monaco AP, Maestrini E, Galan P, Heron D, Jacquette A, Afenjar A, Rastetter A, Brice A, Devillard F, Assouline B, Laffargue F, Lespinasse J, Chiesa J, Rivier F, Bonneau D, Regnault B, Zelenika D, Delepine M, Lathrop M, Sanlaville D, Schluth-Bolard C, Edery P, Perrin L, Tabet AC, Schmeisser MJ, Boeckers TM, Coleman M, Sato D, Szatmari P, Scherer SW, Rouleau GA, Betancur C, Leboyer M, Gillberg C, Delorme R, Bourgeron T.

PLoS Genet. 2014 Sep 4;10(9):e1004580. doi: 10.1371/journal.pgen.1004580. eCollection 2014 Sep.

17.

Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy.

Lumish HS, Wynn J, Devinsky O, Chung WK.

J Autism Dev Disord. 2015 Nov;45(11):3764-70. doi: 10.1007/s10803-015-2484-8.

PMID:
26084711
18.

Genomics, intellectual disability, and autism.

Deth RC.

N Engl J Med. 2012 Jun 7;366(23):2231-2; author reply 2232. doi: 10.1056/NEJMc1204397#SA1. No abstract available.

PMID:
22670919
19.

Complex autism spectrum disorder in a patient with a 17q12 microduplication.

Brandt T, Desai K, Grodberg D, Mehta L, Cohen N, Tryfon A, Kolevzon A, Soorya L, Buxbaum JD, Edelmann L.

Am J Med Genet A. 2012 May;158A(5):1170-7. doi: 10.1002/ajmg.a.35267. Epub 2012 Apr 4.

PMID:
22488896
20.

High-functioning autism spectrum disorder associated with CHARGE syndrome: a case report.

Pisano S, Milone A, Gemo I, Masi G.

Clin Dysmorphol. 2014 Jan;23(1):35-7. doi: 10.1097/MCD.0000000000000014. No abstract available.

PMID:
24172694

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