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Results: 1 to 20 of 38

1.

Duplication of the NPHP1 gene in patients with autism spectrum disorder and normal intellectual ability: a case series.

Yasuda Y, Hashimoto R, Fukai R, Okamoto N, Hiraki Y, Yamamori H, Fujimoto M, Ohi K, Taniike M, Mohri I, Nakashima M, Tsurusaki Y, Saitsu H, Matsumoto N, Miyake N, Takeda M.

Ann Gen Psychiatry. 2014 Aug 6;13:22. doi: 10.1186/s12991-014-0022-2. eCollection 2014.

PMID:
25126106
[PubMed]
Free PMC Article
2.

Identification of structural variation in mouse genomes.

Keane TM, Wong K, Adams DJ, Flint J, Reymond A, Yalcin B.

Front Genet. 2014 Jul 2;5:192. doi: 10.3389/fgene.2014.00192. eCollection 2014. Review.

PMID:
25071822
[PubMed]
Free PMC Article
3.

Copy number variants (CNVs) analysis in a deeply phenotyped cohort of individuals with intellectual disability (ID).

Qiao Y, Mercier E, Dastan J, Hurlburt J, McGillivray B, Chudley AE, Farrell S, Bernier FP, Lewis MS, Pavlidis P, Rajcan-Separovic E.

BMC Med Genet. 2014 Jul 16;15:82. doi: 10.1186/1471-2350-15-82.

PMID:
25030379
[PubMed - in process]
Free PMC Article
4.

Biological overlap of attention-deficit/hyperactivity disorder and autism spectrum disorder: evidence from copy number variants.

Martin J, Cooper M, Hamshere ML, Pocklington A, Scherer SW, Kent L, Gill M, Owen MJ, Williams N, O'Donovan MC, Thapar A, Holmans P.

J Am Acad Child Adolesc Psychiatry. 2014 Jul;53(7):761-70.e26. doi: 10.1016/j.jaac.2014.03.004. Epub 2014 Apr 21.

PMID:
24954825
[PubMed - in process]
Free PMC Article
5.

Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: a multivariate analysis.

Caramaschi E, Stanghellini I, Magini P, Giuffrida MG, Scullin S, Giuva T, Bergonzini P, Guerra A, Paolucci P, Percesepe A.

Ital J Pediatr. 2014 Apr 28;40:39. doi: 10.1186/1824-7288-40-39.

PMID:
24775911
[PubMed - in process]
Free PMC Article
6.

Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts.

Connolly JJ, Glessner JT, Almoguera B, Crosslin DR, Jarvik GP, Sleiman PM, Hakonarson H.

Front Genet. 2014 Mar 18;5:51. doi: 10.3389/fgene.2014.00051. eCollection 2014. Review.

PMID:
24672537
[PubMed]
Free PMC Article
7.

Copy number variations burden on miRNA genes reveals layers of complexities involved in the regulation of pathways and phenotypic expression.

Veerappa AM, Murthy MN, Vishweswaraiah S, Lingaiah K, Suresh RV, Nachappa SA, Prashali N, Yadav SN, Srikanta MA, Manjegowda DS, Seshachalam KB, Ramachandra NB.

PLoS One. 2014 Feb 28;9(2):e90391. doi: 10.1371/journal.pone.0090391. eCollection 2014.

PMID:
24587348
[PubMed - in process]
Free PMC Article
8.

Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population.

Matsunami N, Hensel CH, Baird L, Stevens J, Otterud B, Leppert T, Varvil T, Hadley D, Glessner JT, Pellegrino R, Kim C, Thomas K, Wang F, Otieno FG, Ho K, Christensen GB, Li D, Prekeris R, Lambert CG, Hakonarson H, Leppert MF.

Mol Autism. 2014 Jan 27;5(1):5. doi: 10.1186/2040-2392-5-5.

PMID:
24467814
[PubMed]
Free PMC Article
9.

ASD-relevant Animal Models of the Foxp Family of Transcription Factors.

Bowers JM, Konopka G.

Autism Open Access. 2012 Dec 5;Suppl 1(10). pii: 10082.

PMID:
24358452
[PubMed]
Free PMC Article
10.

Lamarckian evolution explains human brain evolution and psychiatric disorders.

Barry G.

Front Neurosci. 2013 Nov 26;7:224. doi: 10.3389/fnins.2013.00224. eCollection 2013. No abstract available.

PMID:
24324395
[PubMed]
Free PMC Article
11.

Schizophrenia: an integrated sociodevelopmental-cognitive model.

Howes OD, Murray RM.

Lancet. 2014 May 10;383(9929):1677-87. doi: 10.1016/S0140-6736(13)62036-X. Epub 2013 Dec 6. Review.

PMID:
24315522
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Evidence for the role of EPHX2 gene variants in anorexia nervosa.

Scott-Van Zeeland AA, Bloss CS, Tewhey R, Bansal V, Torkamani A, Libiger O, Duvvuri V, Wineinger N, Galvez L, Darst BF, Smith EN, Carson A, Pham P, Phillips T, Villarasa N, Tisch R, Zhang G, Levy S, Murray S, Chen W, Srinivasan S, Berenson G, Brandt H, Crawford S, Crow S, Fichter MM, Halmi KA, Johnson C, Kaplan AS, La Via M, Mitchell JE, Strober M, Rotondo A, Treasure J, Woodside DB, Bulik CM, Keel P, Klump KL, Lilenfeld L, Plotnicov K, Topol EJ, Shih PB, Magistretti P, Bergen AW, Berrettini W, Kaye W, Schork NJ.

Mol Psychiatry. 2014 Jun;19(6):724-32. doi: 10.1038/mp.2013.91. Epub 2013 Sep 3.

PMID:
23999524
[PubMed - in process]
Free PMC Article
13.

Genetic screening for the risk of type 2 diabetes: worthless or valuable?

Lyssenko V, Laakso M.

Diabetes Care. 2013 Aug;36 Suppl 2:S120-6. doi: 10.2337/dcS13-2009. Review. No abstract available.

PMID:
23882036
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Copy number variation: what is it and what has it told us about child psychiatric disorders?

Thapar A, Cooper M.

J Am Acad Child Adolesc Psychiatry. 2013 Aug;52(8):772-4. doi: 10.1016/j.jaac.2013.05.013. No abstract available.

PMID:
23880486
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Dystonia, facial dysmorphism, intellectual disability and breast cancer associated with a chromosome 13q34 duplication and overexpression of TFDP1: case report.

Moscovich M, LeDoux MS, Xiao J, Rampon GL, Vemula SR, Rodriguez RL, Foote KD, Okun MS.

BMC Med Genet. 2013 Jul 13;14:70. doi: 10.1186/1471-2350-14-70.

PMID:
23849371
[PubMed - in process]
Free PMC Article
16.

Global increases in both common and rare copy number load associated with autism.

Girirajan S, Johnson RL, Tassone F, Balciuniene J, Katiyar N, Fox K, Baker C, Srikanth A, Yeoh KH, Khoo SJ, Nauth TB, Hansen R, Ritchie M, Hertz-Picciotto I, Eichler EE, Pessah IN, Selleck SB.

Hum Mol Genet. 2013 Jul 15;22(14):2870-80. doi: 10.1093/hmg/ddt136. Epub 2013 Mar 27.

PMID:
23535821
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Continuing difficulties in interpreting CNV data: lessons from a genome-wide CNV association study of Australian HNPCC/lynch syndrome patients.

Talseth-Palmer BA, Holliday EG, Evans TJ, McEvoy M, Attia J, Grice DM, Masson AL, Meldrum C, Spigelman A, Scott RJ.

BMC Med Genomics. 2013 Mar 26;6:10. doi: 10.1186/1755-8794-6-10.

PMID:
23531357
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence.

Moreno-De-Luca A, Myers SM, Challman TD, Moreno-De-Luca D, Evans DW, Ledbetter DH.

Lancet Neurol. 2013 Apr;12(4):406-14. doi: 10.1016/S1474-4422(13)70011-5. Epub 2013 Mar 18. Review. Erratum in: Lancet Neurol. 2013 May;12(5):423.

PMID:
23518333
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Possible association between suicide committed under influence of ethanol and a variant in the AUTS2 gene.

Chojnicka I, Gajos K, Strawa K, Broda G, Fudalej S, Fudalej M, Stawiński P, Pawlak A, Krajewski P, Wojnar M, Płoski R.

PLoS One. 2013;8(2):e57199. doi: 10.1371/journal.pone.0057199. Epub 2013 Feb 20.

PMID:
23437340
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Detecting highly differentiated copy-number variants from pooled population sequencing.

Schrider DR, Begun DJ, Hahn MW.

Pac Symp Biocomput. 2013:344-55.

PMID:
23424139
[PubMed - indexed for MEDLINE]
Free PMC Article

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