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Items: 1 to 20 of 73

1.

Minimal aberrant behavioral phenotypes of neuroligin-3 R451C knockin mice.

Chadman KK, Gong S, Scattoni ML, Boltuck SE, Gandhy SU, Heintz N, Crawley JN.

Autism Res. 2008 Jun;1(3):147-58. doi: 10.1002/aur.22.

2.

Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: efficient identification of known microduplications and identification of a novel microduplication in ASMT.

Cai G, Edelmann L, Goldsmith JE, Cohen N, Nakamine A, Reichert JG, Hoffman EJ, Zurawiecki DM, Silverman JM, Hollander E, Soorya L, Anagnostou E, Betancur C, Buxbaum JD.

BMC Med Genomics. 2008 Oct 16;1:50. doi: 10.1186/1755-8794-1-50.

3.

Copy-number variations associated with neuropsychiatric conditions.

Cook EH Jr, Scherer SW.

Nature. 2008 Oct 16;455(7215):919-23. doi: 10.1038/nature07458. Review.

PMID:
18923514
4.

Weighing the evidence for a ternary protein complex mediating A-type K+ currents in neurons.

Maffie J, Rudy B.

J Physiol. 2008 Dec 1;586(23):5609-23. doi: 10.1113/jphysiol.2008.161620. Epub 2008 Oct 9. Review.

5.

Cytogenetic technology--genotype and phenotype.

Ledbetter DH.

N Engl J Med. 2008 Oct 16;359(16):1728-30. doi: 10.1056/NEJMe0806570. Epub 2008 Sep 10. No abstract available.

PMID:
18784093
6.

Identifying autism loci and genes by tracing recent shared ancestry.

Morrow EM, Yoo SY, Flavell SW, Kim TK, Lin Y, Hill RS, Mukaddes NM, Balkhy S, Gascon G, Hashmi A, Al-Saad S, Ware J, Joseph RM, Greenblatt R, Gleason D, Ertelt JA, Apse KA, Bodell A, Partlow JN, Barry B, Yao H, Markianos K, Ferland RJ, Greenberg ME, Walsh CA.

Science. 2008 Jul 11;321(5886):218-23. doi: 10.1126/science.1157657. Erratum in: Science. 2010 Dec 24;330(6012):1746.

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.

Disruption of Contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome.

Fernandez T, Morgan T, Davis N, Klin A, Morris A, Farhi A, Lifton RP, State MW.

Am J Hum Genet. 2008 Jun;82(6):1385. No abstract available.

9.

Common and rare variants in multifactorial susceptibility to common diseases.

Bodmer W, Bonilla C.

Nat Genet. 2008 Jun;40(6):695-701. doi: 10.1038/ng.f.136. Review.

10.

Deletion 22q13.3 syndrome.

Phelan MC.

Orphanet J Rare Dis. 2008 May 27;3:14. doi: 10.1186/1750-1172-3-14.

11.

Neurexin 1alpha structural variants associated with autism.

Yan J, Noltner K, Feng J, Li W, Schroer R, Skinner C, Zeng W, Schwartz CE, Sommer SS.

Neurosci Lett. 2008 Jun 27;438(3):368-70. doi: 10.1016/j.neulet.2008.04.074. Epub 2008 Apr 25.

PMID:
18490107
12.

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.

13.

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders.

Schaefer GB, Mendelsohn NJ; Professional Practice and Guidelines Committee.

Genet Med. 2008 Apr;10(4):301-5. doi: 10.1097/GIM.0b013e31816b5cc9. Erratum in: Genet Med. 2008 Jun;10(6):464.

14.

Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.

Christian SL, Brune CW, Sudi J, Kumar RA, Liu S, Karamohamed S, Badner JA, Matsui S, Conroy J, McQuaid D, Gergel J, Hatchwell E, Gilliam TC, Gershon ES, Nowak NJ, Dobyns WB, Cook EH Jr.

Biol Psychiatry. 2008 Jun 15;63(12):1111-7. doi: 10.1016/j.biopsych.2008.01.009. Epub 2008 Mar 28.

15.

Disruption of contactin 4 in three subjects with autism spectrum disorder.

Roohi J, Montagna C, Tegay DH, Palmer LE, DeVincent C, Pomeroy JC, Christian SL, Nowak N, Hatchwell E.

J Med Genet. 2009 Mar;46(3):176-82. doi: 10.1136/jmg.2008.057505. Epub 2008 Mar 18.

16.

Smaller dendritic spines, weaker synaptic transmission, but enhanced spatial learning in mice lacking Shank1.

Hung AY, Futai K, Sala C, Valtschanoff JG, Ryu J, Woodworth MA, Kidd FL, Sung CC, Miyakawa T, Bear MF, Weinberg RJ, Sheng M.

J Neurosci. 2008 Feb 13;28(7):1697-708. doi: 10.1523/JNEUROSCI.3032-07.2008.

17.

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.

18.

Familial deletion within NLGN4 associated with autism and Tourette syndrome.

Lawson-Yuen A, Saldivar JS, Sommer S, Picker J.

Eur J Hum Genet. 2008 May;16(5):614-8. doi: 10.1038/sj.ejhg.5202006. Epub 2008 Jan 30.

19.

Reduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autism.

Jamain S, Radyushkin K, Hammerschmidt K, Granon S, Boretius S, Varoqueaux F, Ramanantsoa N, Gallego J, Ronnenberg A, Winter D, Frahm J, Fischer J, Bourgeron T, Ehrenreich H, Brose N.

Proc Natl Acad Sci U S A. 2008 Feb 5;105(5):1710-5. doi: 10.1073/pnas.0711555105. Epub 2008 Jan 28.

20.

Genetics evaluation for the etiologic diagnosis of autism spectrum disorders.

Schaefer GB, Mendelsohn NJ.

Genet Med. 2008 Jan;10(1):4-12. doi: 10.1097/GIM.0b013e31815efdd7. Review. Erratum in: Genet Med. 2008 Jun;10(6):464.

PMID:
18197051

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