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Items: 1 to 20 of 151

1.

Association and mutation analyses of 16p11.2 autism candidate genes.

Kumar RA, Marshall CR, Badner JA, Babatz TD, Mukamel Z, Aldinger KA, Sudi J, Brune CW, Goh G, Karamohamed S, Sutcliffe JS, Cook EH, Geschwind DH, Dobyns WB, Scherer SW, Christian SL.

PLoS One. 2009;4(2):e4582. doi: 10.1371/journal.pone.0004582. Epub 2009 Feb 26.

2.

Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations.

Konyukh M, Delorme R, Chaste P, Leblond C, Lemière N, Nygren G, Anckarsäter H, Rastam M, Ståhlberg O, Amsellem F, Gillberg IC, Mouren-Simeoni MC, Herbrecht E, Fauchereau F, Toro R, Gillberg C, Leboyer M, Bourgeron T.

PLoS One. 2011 Mar 4;6(3):e17289. doi: 10.1371/journal.pone.0017289.

3.

Recurrent 16p11.2 microdeletions in autism.

Kumar RA, KaraMohamed S, Sudi J, Conrad DF, Brune C, Badner JA, Gilliam TC, Nowak NJ, Cook EH Jr, Dobyns WB, Christian SL.

Hum Mol Genet. 2008 Feb 15;17(4):628-38. Epub 2007 Dec 21.

PMID:
18156158
4.

Association between microdeletion and microduplication at 16p11.2 and autism.

Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, Saemundsen E, Stefansson H, Ferreira MA, Green T, Platt OS, Ruderfer DM, Walsh CA, Altshuler D, Chakravarti A, Tanzi RE, Stefansson K, Santangelo SL, Gusella JF, Sklar P, Wu BL, Daly MJ; Autism Consortium.

N Engl J Med. 2008 Feb 14;358(7):667-75. doi: 10.1056/NEJMoa075974. Epub 2008 Jan 9.

5.

Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT.

Barnby G, Abbott A, Sykes N, Morris A, Weeks DE, Mott R, Lamb J, Bailey AJ, Monaco AP; International Molecular Genetics Study of Autism Consortium.

Am J Hum Genet. 2005 Jun;76(6):950-66. Epub 2005 Apr 13.

6.

Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families.

Blumenthal I, Ragavendran A, Erdin S, Klei L, Sugathan A, Guide JR, Manavalan P, Zhou JQ, Wheeler VC, Levin JZ, Ernst C, Roeder K, Devlin B, Gusella JF, Talkowski ME.

Am J Hum Genet. 2014 Jun 5;94(6):870-83. doi: 10.1016/j.ajhg.2014.05.004.

7.

Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother.

Tabet AC, Pilorge M, Delorme R, Amsellem F, Pinard JM, Leboyer M, Verloes A, Benzacken B, Betancur C.

Eur J Hum Genet. 2012 May;20(5):540-6. doi: 10.1038/ejhg.2011.244. Epub 2012 Jan 11. Erratum in: Eur J Hum Genet. 2012 May;20(5):594.

8.

Duplication 16p11.2 in a child with infantile seizure disorder.

Bedoyan JK, Kumar RA, Sudi J, Silverstein F, Ackley T, Iyer RK, Christian SL, Martin DM.

Am J Med Genet A. 2010 Jun;152A(6):1567-74. doi: 10.1002/ajmg.a.33415.

9.

The 16p11.2 deletion mouse model of autism exhibits altered cortical progenitor proliferation and brain cytoarchitecture linked to the ERK MAPK pathway.

Pucilowska J, Vithayathil J, Tavares EJ, Kelly C, Karlo JC, Landreth GE.

J Neurosci. 2015 Feb 18;35(7):3190-200. doi: 10.1523/JNEUROSCI.4864-13.2015.

10.

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.

11.

Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility gene.

Wassink TH, Piven J, Vieland VJ, Jenkins L, Frantz R, Bartlett CW, Goedken R, Childress D, Spence MA, Smith M, Sheffield VC.

Am J Med Genet B Neuropsychiatr Genet. 2005 Jul 5;136B(1):36-44.

PMID:
15892143
12.

16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2.

Barber JC, Hall V, Maloney VK, Huang S, Roberts AM, Brady AF, Foulds N, Bewes B, Volleth M, Liehr T, Mehnert K, Bateman M, White H.

Eur J Hum Genet. 2013 Feb;21(2):182-9. doi: 10.1038/ejhg.2012.144. Epub 2012 Jul 25.

13.

Constitutional downregulation of SEMA5A expression in autism.

Melin M, Carlsson B, Anckarsater H, Rastam M, Betancur C, Isaksson A, Gillberg C, Dahl N.

Neuropsychobiology. 2006;54(1):64-9. Epub 2006 Oct 5.

14.

Association of the neuronal cell adhesion molecule (NRCAM) gene variants with autism.

Marui T, Funatogawa I, Koishi S, Yamamoto K, Matsumoto H, Hashimoto O, Nanba E, Nishida H, Sugiyama T, Kasai K, Watanabe K, Kano Y, Sasaki T, Kato N.

Int J Neuropsychopharmacol. 2009 Feb;12(1):1-10. doi: 10.1017/S1461145708009127. Epub 2008 Jul 30. Erratum in: Int J Neuropsychopharmacol. 2009 Apr;12(3):439. Sasaki, Tsukasa [added].

PMID:
18664314
15.

Converging evidence for an association of ATP2B2 allelic variants with autism in male subjects.

Carayol J, Sacco R, Tores F, Rousseau F, Lewin P, Hager J, Persico AM.

Biol Psychiatry. 2011 Nov 1;70(9):880-7. doi: 10.1016/j.biopsych.2011.05.020. Epub 2011 Jul 14.

PMID:
21757185
16.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

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

PMID:
15121991
17.

A genetic variant that disrupts MET transcription is associated with autism.

Campbell DB, Sutcliffe JS, Ebert PJ, Militerni R, Bravaccio C, Trillo S, Elia M, Schneider C, Melmed R, Sacco R, Persico AM, Levitt P.

Proc Natl Acad Sci U S A. 2006 Nov 7;103(45):16834-9. Epub 2006 Oct 19.

18.

Bioinformatic analysis of autism positional candidate genes using biological databases and computational gene network prediction.

Yonan AL, Palmer AA, Smith KC, Feldman I, Lee HK, Yonan JM, Fischer SG, Pavlidis P, Gilliam TC.

Genes Brain Behav. 2003 Oct;2(5):303-20.

19.

MeCP2 gene mutation analysis in autistic boys with developmental regression.

Xi CY, Ma HW, Lu Y, Zhao YJ, Hua TY, Zhao Y, Ji YH.

Psychiatr Genet. 2007 Apr;17(2):113-6.

PMID:
17413451
20.

What is known about autism: genes, brain, and behavior.

Santangelo SL, Tsatsanis K.

Am J Pharmacogenomics. 2005;5(2):71-92. Review.

PMID:
15813671

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