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Results: 1 to 20 of 737

1.

Copy number and sequence variants implicate APBA2 as an autism candidate gene.

Babatz TD, Kumar RA, Sudi J, Dobyns WB, Christian SL.

Autism Res. 2009 Dec;2(6):359-64. doi: 10.1002/aur.107.

PMID:
20029827
[PubMed - indexed for MEDLINE]
2.

Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder.

Fernandez BA, Roberts W, Chung B, Weksberg R, Meyn S, Szatmari P, Joseph-George AM, Mackay S, Whitten K, Noble B, Vardy C, Crosbie V, Luscombe S, Tucker E, Turner L, Marshall CR, Scherer SW.

J Med Genet. 2010 Mar;47(3):195-203. doi: 10.1136/jmg.2009.069369. Epub 2009 Sep 15.

PMID:
19755429
[PubMed - indexed for MEDLINE]
3.

Partial duplication of the APBA2 gene in chromosome 15q13 corresponds to duplicon structures.

Sutcliffe JS, Han MK, Amin T, Kesterson RA, Nurmi EL.

BMC Genomics. 2003 Apr 29;4(1):15. Epub 2003 Apr 29.

PMID:
12720574
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders.

Ozgen HM, van Daalen E, Bolton PF, Maloney VK, Huang S, Cresswell L, van den Boogaard MJ, Eleveld MJ, van 't Slot R, Hochstenbach R, Beemer FA, Barrow M, Barber JC, Poot M.

Clin Genet. 2009 Oct;76(4):348-56. doi: 10.1111/j.1399-0004.2009.01254.x.

PMID:
19793310
[PubMed - indexed for MEDLINE]
5.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

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

PMID:
15121991
[PubMed - indexed for MEDLINE]
6.

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.

PMID:
18374305
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.

Berkel S, Marshall CR, Weiss B, Howe J, Roeth R, Moog U, Endris V, Roberts W, Szatmari P, Pinto D, Bonin M, Riess A, Engels H, Sprengel R, Scherer SW, Rappold GA.

Nat Genet. 2010 Jun;42(6):489-91. doi: 10.1038/ng.589. Epub 2010 May 16.

PMID:
20473310
[PubMed - indexed for MEDLINE]
8.

[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]
9.

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
10.

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.

PMID:
17999366
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Association study of the commonly recognized breakpoints in chromosome 15q11-q13 in Japanese autistic patients.

Kato C, Tochigi M, Koishi S, Kawakubo Y, Yamamoto K, Matsumoto H, Hashimoto O, Kim SY, Watanabe K, Kano Y, Nanba E, Kato N, Sasaki T.

Psychiatr Genet. 2008 Jun;18(3):133-6. doi: 10.1097/YPG.0b013e3282fb0064.

PMID:
18496211
[PubMed - indexed for MEDLINE]
12.

Genetic analysis of reelin gene (RELN) SNPs: no association with autism spectrum disorder in the Indian population.

Dutta S, Sinha S, Ghosh S, Chatterjee A, Ahmed S, Usha R.

Neurosci Lett. 2008 Aug 15;441(1):56-60. doi: 10.1016/j.neulet.2008.06.022. Epub 2008 Jun 13.

PMID:
18597938
[PubMed - indexed for MEDLINE]
13.

Rare de novo and transmitted copy-number variation in autistic spectrum disorders.

Levy D, Ronemus M, Yamrom B, Lee YH, Leotta A, Kendall J, Marks S, Lakshmi B, Pai D, Ye K, Buja A, Krieger A, Yoon S, Troge J, Rodgers L, Iossifov I, Wigler M.

Neuron. 2011 Jun 9;70(5):886-97. doi: 10.1016/j.neuron.2011.05.015.

PMID:
21658582
[PubMed - indexed for MEDLINE]
Free Article
14.

Evaluation of linkage and association of HPC2/ELAC2 in patients with familial or sporadic prostate cancer.

Xu J, Zheng SL, Carpten JD, Nupponen NN, Robbins CM, Mestre J, Moses TY, Faith DA, Kelly BD, Isaacs SD, Wiley KE, Ewing CM, Bujnovszky P, Chang B, Bailey-Wilson J, Bleecker ER, Walsh PC, Trent JM, Meyers DA, Isaacs WB.

Am J Hum Genet. 2001 Apr;68(4):901-11. Epub 2001 Mar 14.

PMID:
11254448
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

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.

PMID:
18925931
[PubMed]
Free PMC Article
16.

Mutation analysis of SYNJ1: a possible candidate gene for chromosome 21q22-linked bipolar disorder.

Saito T, Guan F, Papolos DF, Lau S, Klein M, Fann CS, Lachman HM.

Mol Psychiatry. 2001 Jul;6(4):387-95.

PMID:
11443522
[PubMed - indexed for MEDLINE]
Free Article
17.

Mutation analysis of the NRXN1 gene in a Chinese autism cohort.

Liu Y, Hu Z, Xun G, Peng Y, Lu L, Xu X, Xiong Z, Xia L, Liu D, Li W, Zhao J, Xia K.

J Psychiatr Res. 2012 May;46(5):630-4. doi: 10.1016/j.jpsychires.2011.10.015. Epub 2012 Mar 9.

PMID:
22405623
[PubMed - indexed for MEDLINE]
18.

Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.

Girirajan S, Dennis MY, Baker C, Malig M, Coe BP, Campbell CD, Mark K, Vu TH, Alkan C, Cheng Z, Biesecker LG, Bernier R, Eichler EE.

Am J Hum Genet. 2013 Feb 7;92(2):221-37. doi: 10.1016/j.ajhg.2012.12.016. Epub 2013 Jan 31.

PMID:
23375656
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
[PubMed - indexed for MEDLINE]
20.

15q duplication associated with autism in a multiplex family with a familial cryptic translocation t(14;15)(q11.2;q13.3) detected using array-CGH.

Koochek M, Harvard C, Hildebrand MJ, Van Allen M, Wingert H, Mickelson E, Holden JJ, Rajcan-Separovic E, Lewis ME.

Clin Genet. 2006 Feb;69(2):124-34.

PMID:
16433693
[PubMed - indexed for MEDLINE]

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