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Items: 1 to 20 of 60

1.

Abnormal behavior in a chromosome-engineered mouse model for human 15q11-13 duplication seen in autism.

Nakatani J, Tamada K, Hatanaka F, Ise S, Ohta H, Inoue K, Tomonaga S, Watanabe Y, Chung YJ, Banerjee R, Iwamoto K, Kato T, Okazawa M, Yamauchi K, Tanda K, Takao K, Miyakawa T, Bradley A, Takumi T.

Cell. 2009 Jun 26;137(7):1235-46. doi: 10.1016/j.cell.2009.04.024.

2.

Autism genetics: strategies, challenges, and opportunities.

O'Roak BJ, State MW.

Autism Res. 2008 Feb;1(1):4-17. doi: 10.1002/aur.3. Review.

PMID:
19360646
3.

Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes.

Nejentsev S, Walker N, Riches D, Egholm M, Todd JA.

Science. 2009 Apr 17;324(5925):387-9. doi: 10.1126/science.1167728. Epub 2009 Mar 5.

4.

Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number.

Hogart A, Leung KN, Wang NJ, Wu DJ, Driscoll J, Vallero RO, Schanen NC, LaSalle JM.

J Med Genet. 2009 Feb;46(2):86-93. doi: 10.1136/jmg.2008.061580. Epub 2008 Oct 7.

5.

Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy.

Tanaka M, Olsen RW, Medina MT, Schwartz E, Alonso ME, Duron RM, Castro-Ortega R, Martinez-Juarez IE, Pascual-Castroviejo I, Machado-Salas J, Silva R, Bailey JN, Bai D, Ochoa A, Jara-Prado A, Pineda G, Macdonald RL, Delgado-Escueta AV.

Am J Hum Genet. 2008 Jun;82(6):1249-61. doi: 10.1016/j.ajhg.2008.04.020.

6.

Advances in autism genetics: on the threshold of a new neurobiology.

Abrahams BS, Geschwind DH.

Nat Rev Genet. 2008 May;9(5):341-55. doi: 10.1038/nrg2346. Review. Erratum in: Nat Rev Genet. 2008 Jun;9(6):493.

7.

Transmission disequilibrium testing of the chromosome 15q11-q13 region in autism.

Kim SJ, Brune CW, Kistner EO, Christian SL, Courchesne EH, Cox NJ, Cook EH.

Am J Med Genet B Neuropsychiatr Genet. 2008 Oct 5;147B(7):1116-25. doi: 10.1002/ajmg.b.30733.

8.

Structural variation of chromosomes in autism spectrum disorder.

Marshall CR, Noor A, Vincent JB, Lionel AC, Feuk L, Skaug J, Shago M, Moessner R, Pinto D, Ren Y, Thiruvahindrapduram B, Fiebig A, Schreiber S, Friedman J, Ketelaars CE, Vos YJ, Ficicioglu C, Kirkpatrick S, Nicolson R, Sloman L, Summers A, Gibbons CA, Teebi A, Chitayat D, Weksberg R, Thompson A, Vardy C, Crosbie V, Luscombe S, Baatjes R, Zwaigenbaum L, Roberts W, Fernandez B, Szatmari P, Scherer SW.

Am J Hum Genet. 2008 Feb;82(2):477-88. doi: 10.1016/j.ajhg.2007.12.009. Epub 2008 Jan 17.

9.

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.

10.

The autism-epilepsy connection.

Levisohn PM.

Epilepsia. 2007;48 Suppl 9:33-5. Review.

11.

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.

13.

Increased GAD67 mRNA expression in cerebellar interneurons in autism: implications for Purkinje cell dysfunction.

Yip J, Soghomonian JJ, Blatt GJ.

J Neurosci Res. 2008 Feb 15;86(3):525-30.

PMID:
17918742
14.

PLINK: a tool set for whole-genome association and population-based linkage analyses.

Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, Sham PC.

Am J Hum Genet. 2007 Sep;81(3):559-75. Epub 2007 Jul 25.

15.

The GABAA receptor alpha1 subunit epilepsy mutation A322D inhibits transmembrane helix formation and causes proteasomal degradation.

Gallagher MJ, Ding L, Maheshwari A, Macdonald RL.

Proc Natl Acad Sci U S A. 2007 Aug 7;104(32):12999-3004. Epub 2007 Aug 1.

16.

15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders.

Hogart A, Nagarajan RP, Patzel KA, Yasui DH, Lasalle JM.

Hum Mol Genet. 2007 Mar 15;16(6):691-703. Epub 2007 Mar 5.

17.

Mapping autism risk loci using genetic linkage and chromosomal rearrangements.

Autism Genome Project Consortium, Szatmari P, Paterson AD, Zwaigenbaum L, Roberts W, Brian J, Liu XQ, Vincent JB, Skaug JL, Thompson AP, Senman L, Feuk L, Qian C, Bryson SE, Jones MB, Marshall CR, Scherer SW, Vieland VJ, Bartlett C, Mangin LV, Goedken R, Segre A, Pericak-Vance MA, Cuccaro ML, Gilbert JR, Wright HH, Abramson RK, Betancur C, Bourgeron T, Gillberg C, Leboyer M, Buxbaum JD, Davis KL, Hollander E, Silverman JM, Hallmayer J, Lotspeich L, Sutcliffe JS, Haines JL, Folstein SE, Piven J, Wassink TH, Sheffield V, Geschwind DH, Bucan M, Brown WT, Cantor RM, Constantino JN, Gilliam TC, Herbert M, Lajonchere C, Ledbetter DH, Lese-Martin C, Miller J, Nelson S, Samango-Sprouse CA, Spence S, State M, Tanzi RE, Coon H, Dawson G, Devlin B, Estes A, Flodman P, Klei L, McMahon WM, Minshew N, Munson J, Korvatska E, Rodier PM, Schellenberg GD, Smith M, Spence MA, Stodgell C, Tepper PG, Wijsman EM, Yu CE, Rogé B, Mantoulan C, Wittemeyer K, Poustka A, Felder B, Klauck SM, Schuster C, Poustka F, Bölte S, Feineis-Matthews S, Herbrecht E, Schmötzer G, Tsiantis J, Papanikolaou K, Maestrini E, Bacchelli E, Blasi F, Carone S, Toma C, Van Engeland H, de Jonge M, Kemner C, Koop F, Langemeijer M, Hijmans C, Staal WG, Baird G, Bolton PF, Rutter ML, Weisblatt E, Green J, Aldred C, Wilkinson JA, Pickles A, Le Couteur A, Berney T, McConachie H, Bailey AJ, Francis K, Honeyman G, Hutchinson A, Parr JR, Wallace S, Monaco AP, Barnby G, Kobayashi K, Lamb JA, Sousa I, Sykes N, Cook EH, Guter SJ, Leventhal BL, Salt J, Lord C, Corsello C, Hus V, Weeks DE, Volkmar F, Tauber M, Fombonne E, Shih A, Meyer KJ.

Nat Genet. 2007 Mar;39(3):319-28. Epub 2007 Feb 18. Erratum in: Nat Genet. 2007 Oct;39(10):1285. Meyer, Kacie J [added]; Koop, Frederike [corrected to Koop, Frederieke]; Langemeijer, Marjolijn [corrected to Langemeijer, Marjolein]; Hijimans, Channa [corrected to Hijmans, Channa].

PMID:
17322880
18.

Decreased GAD67 mRNA levels in cerebellar Purkinje cells in autism: pathophysiological implications.

Yip J, Soghomonian JJ, Blatt GJ.

Acta Neuropathol. 2007 May;113(5):559-68. Epub 2007 Jan 18.

PMID:
17235515
19.

High frequency of neurexin 1beta signal peptide structural variants in patients with autism.

Feng J, Schroer R, Yan J, Song W, Yang C, Bockholt A, Cook EH Jr, Skinner C, Schwartz CE, Sommer SS.

Neurosci Lett. 2006 Nov 27;409(1):10-3. Epub 2006 Oct 10.

PMID:
17034946
20.

Epigenetics of autism spectrum disorders.

Schanen NC.

Hum Mol Genet. 2006 Oct 15;15 Spec No 2:R138-50. Review.

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