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Results: 1 to 20 of 127

Similar articles for PubMed (Select 22258914)

1.

Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities.

Zoghbi HY, Bear MF.

Cold Spring Harb Perspect Biol. 2012 Mar 1;4(3). pii: a009886. doi: 10.1101/cshperspect.a009886. Review.

2.

Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders.

Mikhail FM, Lose EJ, Robin NH, Descartes MD, Rutledge KD, Rutledge SL, Korf BR, Carroll AJ.

Am J Med Genet A. 2011 Oct;155A(10):2386-96. doi: 10.1002/ajmg.a.34177.

PMID:
22031302
3.

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
4.

Network- and attribute-based classifiers can prioritize genes and pathways for autism spectrum disorders and intellectual disability.

Kou Y, Betancur C, Xu H, Buxbaum JD, Ma'ayan A.

Am J Med Genet C Semin Med Genet. 2012 May 15;160C(2):130-42. doi: 10.1002/ajmg.c.31330. Epub 2012 Apr 12.

5.

Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia.

Gauthier J, Siddiqui TJ, Huashan P, Yokomaku D, Hamdan FF, Champagne N, Lapointe M, Spiegelman D, Noreau A, Lafrenière RG, Fathalli F, Joober R, Krebs MO, DeLisi LE, Mottron L, Fombonne E, Michaud JL, Drapeau P, Carbonetto S, Craig AM, Rouleau GA.

Hum Genet. 2011 Oct;130(4):563-73. doi: 10.1007/s00439-011-0975-z. Epub 2011 Mar 22.

6.

Behavioral profiles of mouse models for autism spectrum disorders.

Ey E, Leblond CS, Bourgeron T.

Autism Res. 2011 Feb;4(1):5-16. doi: 10.1002/aur.175. Epub 2011 Jan 5.

PMID:
21328568
7.

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1.

Gregor A, Albrecht B, Bader I, Bijlsma EK, Ekici AB, Engels H, Hackmann K, Horn D, Hoyer J, Klapecki J, Kohlhase J, Maystadt I, Nagl S, Prott E, Tinschert S, Ullmann R, Wohlleber E, Woods G, Reis A, Rauch A, Zweier C.

BMC Med Genet. 2011 Aug 9;12:106. doi: 10.1186/1471-2350-12-106.

8.

Orchestration of neurodevelopmental programs by RBFOX1: implications for autism spectrum disorder.

Bill BR, Lowe JK, Dybuncio CT, Fogel BL.

Int Rev Neurobiol. 2013;113:251-67. doi: 10.1016/B978-0-12-418700-9.00008-3. Review.

9.

Heterogeneity and convergence: the synaptic pathophysiology of autism.

Baudouin SJ.

Eur J Neurosci. 2014 Apr;39(7):1107-13. doi: 10.1111/ejn.12498. Review.

PMID:
24712990
10.

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
11.

[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.

12.

SHANK1 Deletions in Males with Autism Spectrum Disorder.

Sato D, Lionel AC, Leblond CS, Prasad A, Pinto D, Walker S, O'Connor I, Russell C, Drmic IE, Hamdan FF, Michaud JL, Endris V, Roeth R, Delorme R, Huguet G, Leboyer M, Rastam M, Gillberg C, Lathrop M, Stavropoulos DJ, Anagnostou E, Weksberg R, Fombonne E, Zwaigenbaum L, Fernandez BA, Roberts W, Rappold GA, Marshall CR, Bourgeron T, Szatmari P, Scherer SW.

Am J Hum Genet. 2012 May 4;90(5):879-87. doi: 10.1016/j.ajhg.2012.03.017. Epub 2012 Apr 12.

13.

Neurodevelopmental and neuropsychiatric disorders represent an interconnected molecular system.

Cristino AS, Williams SM, Hawi Z, An JY, Bellgrove MA, Schwartz CE, Costa Lda F, Claudianos C.

Mol Psychiatry. 2014 Mar;19(3):294-301. doi: 10.1038/mp.2013.16. Epub 2013 Feb 26.

PMID:
23439483
14.

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
15.

Intellectual disability is associated with increased runs of homozygosity in simplex autism.

Gamsiz ED, Viscidi EW, Frederick AM, Nagpal S, Sanders SJ, Murtha MT, Schmidt M; Simons Simplex Collection Genetics Consortium, Triche EW, Geschwind DH, State MW, Istrail S, Cook EH Jr, Devlin B, Morrow EM.

Am J Hum Genet. 2013 Jul 11;93(1):103-9. doi: 10.1016/j.ajhg.2013.06.004. Epub 2013 Jul 3.

16.

Synaptic microcircuit dysfunction in genetic models of neurodevelopmental disorders: focus on Mecp2 and Met.

Shepherd GM, Katz DM.

Curr Opin Neurobiol. 2011 Dec;21(6):827-33. doi: 10.1016/j.conb.2011.06.006. Epub 2011 Jul 4. Review.

17.

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.

PMID:
21129364
18.

Synaptic plasticity as a therapeutic target in the treatment of autism-related single-gene disorders.

Pignatelli M, Feligioni M, Piccinin S, Molinaro G, Nicoletti F, Nisticò R.

Curr Pharm Des. 2013;19(36):6480-90. Review.

PMID:
23432715
19.

[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
20.

Maternally inherited genetic variants of CADPS2 are present in autism spectrum disorders and intellectual disability patients.

Bonora E, Graziano C, Minopoli F, Bacchelli E, Magini P, Diquigiovanni C, Lomartire S, Bianco F, Vargiolu M, Parchi P, Marasco E, Mantovani V, Rampoldi L, Trudu M, Parmeggiani A, Battaglia A, Mazzone L, Tortora G; IMGSAC, Maestrini E, Seri M, Romeo G.

EMBO Mol Med. 2014 Apr 14;6(6):795-809. doi: 10.1002/emmm.201303235. Erratum in: EMBO Mol Med. 2014 Dec;6(12):1639.

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