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Year Number of Results
2011 1
2012 3
2013 1
2014 1
2021 0
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De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia.
Kirov G, Pocklington AJ, Holmans P, Ivanov D, Ikeda M, Ruderfer D, Moran J, Chambert K, Toncheva D, Georgieva L, Grozeva D, Fjodorova M, Wollerton R, Rees E, Nikolov I, van de Lagemaat LN, Bayés A, Fernandez E, Olason PI, Böttcher Y, Komiyama NH, Collins MO, Choudhary J, Stefansson K, Stefansson H, Grant SG, Purcell S, Sklar P, O'Donovan MC, Owen MJ. Kirov G, et al. Mol Psychiatry. 2012 Feb;17(2):142-53. doi: 10.1038/mp.2011.154. Epub 2011 Nov 15. Mol Psychiatry. 2012. PMID: 22083728 Free PMC article.
Eight de novo CNVs occurred at four known schizophrenia loci (3q29, 15q11.2, 15q13.3 and 16p11.2). ...Using a systems biology approach and merging novel CNV and proteomics data sets, systematic analysis of synaptic protein complexes showed that, compar …
Eight de novo CNVs occurred at four known schizophrenia loci (3q29, 15q11.2, 15q13.3 and 16p11.2). ...Using a systems biology …
Role of copy number variants in structural birth defects.
Southard AE, Edelmann LJ, Gelb BD. Southard AE, et al. Pediatrics. 2012 Apr;129(4):755-63. doi: 10.1542/peds.2011-2337. Epub 2012 Mar 19. Pediatrics. 2012. PMID: 22430448 Review.
METHODS: All full-length articles in the PubMed database through May 2011 that discussed CNVs and isolated structural defects of the craniofacial, respiratory, renal, and cardiac systems were considered. Search terms queried include CNV, copy number variation, array compar …
METHODS: All full-length articles in the PubMed database through May 2011 that discussed CNVs and isolated structural defects of the craniof …
Infantile spasms are associated with abnormal copy number variations.
Tiwari VN, Sundaram SK, Chugani HT, Huq AH. Tiwari VN, et al. J Child Neurol. 2013 Oct;28(10):1191-6. doi: 10.1177/0883073812453496. Epub 2012 Aug 21. J Child Neurol. 2013. PMID: 22914377
The authors tested the hypothesis that de novo copy number variations (CNVs) implicated in known genomic disorders ("pathogenic CNVs") are significant predisposing factors of infantile spasms. ...A rare, large (4.8 Mb) de novo duplication was de …
The authors tested the hypothesis that de novo copy number variations (CNVs) implicated in known genomic disorders ("pa …
Copy number variation distribution in six monozygotic twin pairs discordant for schizophrenia.
Castellani CA, Awamleh Z, Melka MG, O'Reilly RL, Singh SM. Castellani CA, et al. Twin Res Hum Genet. 2014 Apr;17(2):108-20. doi: 10.1017/thg.2014.6. Epub 2014 Feb 20. Twin Res Hum Genet. 2014. PMID: 24556202
The results identified CNVs and genes that were previously implicated in mental abnormalities in four of the six twin pairs. It included PYY (twin pairs 1 and 5), EPHA3 (twin pair 3), KIAA1211L (twin pair 4), and GPR139 (twin pair 5). They represent likely candidate …
The results identified CNVs and genes that were previously implicated in mental abnormalities in four of the six twin pairs. I …