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Results: 1 to 20 of 269

1.

Association of mouse Dlg4 (PSD-95) gene deletion and human DLG4 gene variation with phenotypes relevant to autism spectrum disorders and Williams' syndrome.

Feyder M, Karlsson RM, Mathur P, Lyman M, Bock R, Momenan R, Munasinghe J, Scattoni ML, Ihne J, Camp M, Graybeal C, Strathdee D, Begg A, Alvarez VA, Kirsch P, Rietschel M, Cichon S, Walter H, Meyer-Lindenberg A, Grant SG, Holmes A.

Am J Psychiatry. 2010 Dec;167(12):1508-17. doi: 10.1176/appi.ajp.2010.10040484. Epub 2010 Oct 15.

PMID:
20952458
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Association of GTF2i in the Williams-Beuren syndrome critical region with autism spectrum disorders.

Malenfant P, Liu X, Hudson ML, Qiao Y, Hrynchak M, Riendeau N, Hildebrand MJ, Cohen IL, Chudley AE, Forster-Gibson C, Mickelson EC, Rajcan-Separovic E, Lewis ME, Holden JJ.

J Autism Dev Disord. 2012 Jul;42(7):1459-69. doi: 10.1007/s10803-011-1389-4.

PMID:
22048961
[PubMed - indexed for MEDLINE]
3.

Glutamatergic postsynaptic density protein dysfunctions in synaptic plasticity and dendritic spines morphology: relevance to schizophrenia and other behavioral disorders pathophysiology, and implications for novel therapeutic approaches.

de Bartolomeis A, Latte G, Tomasetti C, Iasevoli F.

Mol Neurobiol. 2014 Feb;49(1):484-511. doi: 10.1007/s12035-013-8534-3. Epub 2013 Sep 3. Review.

PMID:
23999870
[PubMed - indexed for MEDLINE]
4.

Lack of association between NLGN3, NLGN4, SHANK2 and SHANK3 gene variants and autism spectrum disorder in a Chinese population.

Liu Y, Du Y, Liu W, Yang C, Liu Y, Wang H, Gong X.

PLoS One. 2013;8(2):e56639. doi: 10.1371/journal.pone.0056639. Epub 2013 Feb 26.

PMID:
23468870
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Disruption of the non-canonical Wnt gene PRICKLE2 leads to autism-like behaviors with evidence for hippocampal synaptic dysfunction.

Sowers LP, Loo L, Wu Y, Campbell E, Ulrich JD, Wu S, Paemka L, Wassink T, Meyer K, Bing X, El-Shanti H, Usachev YM, Ueno N, Manak JR, Shepherd AJ, Ferguson PJ, Darbro BW, Richerson GB, Mohapatra DP, Wemmie JA, Bassuk AG.

Mol Psychiatry. 2013 Oct;18(10):1077-89. doi: 10.1038/mp.2013.71. Epub 2013 May 28. Erratum in: Mol Psychiatry. 2014 Jun;19(6):742. Manak, R J [corrected to Manak, J R].

PMID:
23711981
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Conceptualizing neurodevelopmental disorders through a mechanistic understanding of fragile X syndrome and Williams syndrome.

Fung LK, Quintin EM, Haas BW, Reiss AL.

Curr Opin Neurol. 2012 Apr;25(2):112-24. doi: 10.1097/WCO.0b013e328351823c. Review.

PMID:
22395002
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Population-specific haplotype association of the postsynaptic density gene DLG4 with schizophrenia, in family-based association studies.

Balan S, Yamada K, Hattori E, Iwayama Y, Toyota T, Ohnishi T, Maekawa M, Toyoshima M, Iwata Y, Suzuki K, Kikuchi M, Yoshikawa T.

PLoS One. 2013 Jul 25;8(7):e70302. doi: 10.1371/journal.pone.0070302. Print 2013.

PMID:
23936182
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Anxious, hypoactive phenotype combined with motor deficits in Gtf2ird1 null mouse model relevant to Williams syndrome.

Schneider T, Skitt Z, Liu Y, Deacon RM, Flint J, Karmiloff-Smith A, Rawlins JN, Tassabehji M.

Behav Brain Res. 2012 Aug 1;233(2):458-73. doi: 10.1016/j.bbr.2012.05.014. Epub 2012 May 28.

PMID:
22652393
[PubMed - indexed for MEDLINE]
9.

Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region.

Berg JS, Brunetti-Pierri N, Peters SU, Kang SH, Fong CT, Salamone J, Freedenberg D, Hannig VL, Prock LA, Miller DT, Raffalli P, Harris DJ, Erickson RP, Cunniff C, Clark GD, Blazo MA, Peiffer DA, Gunderson KL, Sahoo T, Patel A, Lupski JR, Beaudet AL, Cheung SW.

Genet Med. 2007 Jul;9(7):427-41.

PMID:
17666889
[PubMed - indexed for MEDLINE]
10.

Deletion of densin-180 results in abnormal behaviors associated with mental illness and reduces mGluR5 and DISC1 in the postsynaptic density fraction.

Carlisle HJ, Luong TN, Medina-Marino A, Schenker L, Khorosheva E, Indersmitten T, Gunapala KM, Steele AD, O'Dell TJ, Patterson PH, Kennedy MB.

J Neurosci. 2011 Nov 9;31(45):16194-207. doi: 10.1523/JNEUROSCI.5877-10.2011.

PMID:
22072671
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

[Genetic analyses for identifying molecular mechanisms in autism spectrum disorders].

Chiocchetti A, Klauck SM.

Z Kinder Jugendpsychiatr Psychother. 2011 Mar;39(2):101-11. doi: 10.1024/1422-4917/a000096. Review. German.

PMID:
21442598
[PubMed - indexed for MEDLINE]
12.

Targeted mutation of Cyln2 in the Williams syndrome critical region links CLIP-115 haploinsufficiency to neurodevelopmental abnormalities in mice.

Hoogenraad CC, Koekkoek B, Akhmanova A, Krugers H, Dortland B, Miedema M, van Alphen A, Kistler WM, Jaegle M, Koutsourakis M, Van Camp N, Verhoye M, van der Linden A, Kaverina I, Grosveld F, De Zeeuw CI, Galjart N.

Nat Genet. 2002 Sep;32(1):116-27. Epub 2002 Aug 26. Erratum in: Nat Genet 2002 Oct;32(2):331.

PMID:
12195424
[PubMed - indexed for MEDLINE]
13.

[Abnormalities of synaptogenesis in autism. Pathogenic and therapeutic implications].

García-Peñas JJ, Domínguez-Carral J, Pereira-Bezanilla E.

Rev Neurol. 2012 Feb 29;54 Suppl 1:S41-50. Review. Spanish.

PMID:
22374772
[PubMed - indexed for MEDLINE]
Free Article
14.

Mouse models of autism spectrum disorders: the challenge for behavioral genetics.

Moy SS, Nadler JJ, Magnuson TR, Crawley JN.

Am J Med Genet C Semin Med Genet. 2006 Feb 15;142C(1):40-51. Review.

PMID:
16419099
[PubMed - indexed for MEDLINE]
15.

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.

PMID:
18272690
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Haploinsufficiency of Gtf2i, a gene deleted in Williams Syndrome, leads to increases in social interactions.

Sakurai T, Dorr NP, Takahashi N, McInnes LA, Elder GA, Buxbaum JD.

Autism Res. 2011 Feb;4(1):28-39. doi: 10.1002/aur.169. Epub 2010 Dec 3.

PMID:
21328569
[PubMed - indexed for MEDLINE]
17.

Sociability and motor functions in Shank1 mutant mice.

Silverman JL, Turner SM, Barkan CL, Tolu SS, Saxena R, Hung AY, Sheng M, Crawley JN.

Brain Res. 2011 Mar 22;1380:120-37. doi: 10.1016/j.brainres.2010.09.026. Epub 2010 Sep 21.

PMID:
20868654
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

PSD-93 knock-out mice reveal that neuronal MAGUKs are not required for development or function of parallel fiber synapses in cerebellum.

McGee AW, Topinka JR, Hashimoto K, Petralia RS, Kakizawa S, Kauer FW, Aguilera-Moreno A, Wenthold RJ, Kano M, Bredt DS.

J Neurosci. 2001 May 1;21(9):3085-91. Erratum in: J Neurosci. 2003 Jan 1;23(1):1a. Kauer F [corrected to Kauer FW].

PMID:
11312293
[PubMed - indexed for MEDLINE]
Free Article
19.

Functional, structural, and metabolic abnormalities of the hippocampal formation in Williams syndrome.

Meyer-Lindenberg A, Mervis CB, Sarpal D, Koch P, Steele S, Kohn P, Marenco S, Morris CA, Das S, Kippenhan S, Mattay VS, Weinberger DR, Berman KF.

J Clin Invest. 2005 Jul;115(7):1888-95. Epub 2005 Jun 9.

PMID:
15951840
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

[Genetics and animal modeling of autism spectrum disorders. New developments].

Klauck SM, Poustka L, Chiocchetti A.

Nervenarzt. 2011 May;82(5):553-62. doi: 10.1007/s00115-010-3241-z. Review. German.

PMID:
21472451
[PubMed - indexed for MEDLINE]
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