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Items: 1 to 20 of 77

1.

Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist.

Lintas C, Persico AM.

J Med Genet. 2009 Jan;46(1):1-8. doi: 10.1136/jmg.2008.060871. Epub 2008 Aug 26. Review.

2.

Genetic causes of syndromic and non-syndromic autism.

Caglayan AO.

Dev Med Child Neurol. 2010 Feb;52(2):130-8. doi: 10.1111/j.1469-8749.2009.03523.x. Epub 2010 Jan 5. Review.

3.

Working up autism: the practical role of medical genetics.

Gurrieri F.

Am J Med Genet C Semin Med Genet. 2012 May 15;160C(2):104-10. doi: 10.1002/ajmg.c.31326. Epub 2012 Apr 12.

PMID:
22499531
4.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

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

PMID:
15121991
5.

Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism.

Talebizadeh Z, Lam DY, Theodoro MF, Bittel DC, Lushington GH, Butler MG.

J Med Genet. 2006 May;43(5):e21.

6.

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism.

Jamain S, Quach H, Betancur C, Råstam M, Colineaux C, Gillberg IC, Soderstrom H, Giros B, Leboyer M, Gillberg C, Bourgeron T; Paris Autism Research International Sibpair Study.

Nat Genet. 2003 May;34(1):27-9.

7.

Postnatal neurodevelopmental disorders: meeting at the synapse?

Zoghbi HY.

Science. 2003 Oct 31;302(5646):826-30.

PMID:
14593168
8.

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.

9.

Autism: the ups and downs of neuroligin.

Geschwind DH.

Biol Psychiatry. 2009 Nov 15;66(10):904-5. doi: 10.1016/j.biopsych.2009.09.022. No abstract available.

10.

Autism-associated neuroligin-3 mutations commonly impair striatal circuits to boost repetitive behaviors.

Rothwell PE, Fuccillo MV, Maxeiner S, Hayton SJ, Gokce O, Lim BK, Fowler SC, Malenka RC, Südhof TC.

Cell. 2014 Jul 3;158(1):198-212. doi: 10.1016/j.cell.2014.04.045.

11.

Do known mutations in neuroligin genes (NLGN3 and NLGN4) cause autism?

Talebizadeh Z, Bittel DC, Veatch OJ, Butler MG, Takahashi TN, Miles JH.

J Autism Dev Disord. 2004 Dec;34(6):735-6. No abstract available.

12.

Novel PTEN mutations in neurodevelopmental disorders and macrocephaly.

Orrico A, Galli L, Buoni S, Orsi A, Vonella G, Sorrentino V.

Clin Genet. 2009 Feb;75(2):195-8. doi: 10.1111/j.1399-0004.2008.01074.x. Epub 2008 Aug 26.

PMID:
18759867
13.

How far can mice carry autism research?

Hyman SE.

Cell. 2014 Jul 3;158(1):13-4. doi: 10.1016/j.cell.2014.06.032.

14.

Absence of coding mutations in the X-linked genes neuroligin 3 and neuroligin 4 in individuals with autism from the IMGSAC collection.

Blasi F, Bacchelli E, Pesaresi G, Carone S, Bailey AJ, Maestrini E; International Molecular Genetic Study of Autism Consortium (IMGSAC).

Am J Med Genet B Neuropsychiatr Genet. 2006 Apr 5;141B(3):220-1.

PMID:
16508939
15.

Analysis of the genes encoding neuroligins NLGN3 and NLGN4 in Bulgarian patients with autism.

Avdjieva-Tzavella DM, Todorov TP, Todorova AP, Kirov AV, Hadjidekova SP, Rukova BB, Litvinenko IO, Hristova-Naydenova DN, Tincheva RS, Toncheva DI.

Genet Couns. 2012;23(4):505-11.

PMID:
23431752
16.

Autism-like behaviours and germline transmission in transgenic monkeys overexpressing MeCP2.

Liu Z, Li X, Zhang JT, Cai YJ, Cheng TL, Cheng C, Wang Y, Zhang CC, Nie YH, Chen ZF, Bian WJ, Zhang L, Xiao J, Lu B, Zhang YF, Zhang XD, Sang X, Wu JJ, Xu X, Xiong ZQ, Zhang F, Yu X, Gong N, Zhou WH, Sun Q, Qiu Z.

Nature. 2016 Feb 4;530(7588):98-102. doi: 10.1038/nature16533. Epub 2016 Jan 25.

PMID:
26808898
17.

Mutation screening of X-chromosomal neuroligin genes: no mutations in 196 autism probands.

Vincent JB, Kolozsvari D, Roberts WS, Bolton PF, Gurling HM, Scherer SW.

Am J Med Genet B Neuropsychiatr Genet. 2004 Aug 15;129B(1):82-4.

PMID:
15274046
18.

Disorder-associated mutations lead to functional inactivation of neuroligins.

Chih B, Afridi SK, Clark L, Scheiffele P.

Hum Mol Genet. 2004 Jul 15;13(14):1471-7. Epub 2004 May 18.

PMID:
15150161
19.

Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome.

Ramocki MB, Peters SU, Tavyev YJ, Zhang F, Carvalho CM, Schaaf CP, Richman R, Fang P, Glaze DG, Lupski JR, Zoghbi HY.

Ann Neurol. 2009 Dec;66(6):771-82. doi: 10.1002/ana.21715.

20.

The autism candidate gene Neurobeachin encodes a scaffolding protein implicated in membrane trafficking and signaling.

Volders K, Nuytens K, Creemers JW.

Curr Mol Med. 2011 Apr;11(3):204-17. Review.

PMID:
21375492

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