Literature DB >> 18923514

Copy-number variations associated with neuropsychiatric conditions.

Edwin H Cook1, Stephen W Scherer.   

Abstract

Neuropsychiatric conditions such as autism and schizophrenia have long been attributed to genetic alterations, but identifying the genes responsible has proved challenging. Microarray experiments have now revealed abundant copy-number variation--a type of variation in which stretches of DNA are duplicated, deleted and sometimes rearranged--in the human population. Genes affected by copy-number variation are good candidates for research into disease susceptibility. The complexity of neuropsychiatric genetics, however, dictates that assessment of the biomedical relevance of copy-number variants and the genes that they affect needs to be considered in an integrated context.

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Year:  2008        PMID: 18923514     DOI: 10.1038/nature07458

Source DB:  PubMed          Journal:  Nature        ISSN: 0028-0836            Impact factor:   49.962


  263 in total

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Journal:  Alzheimers Dement       Date:  2010-05       Impact factor: 21.566

2.  Investigation of genetic factors underlying typical orofacial clefts: mutational screening and copy number variation.

Authors:  Milena Simioni; Tânia Kawasaki Araujo; Isabella Lopes Monlleo; Cláudia Vianna Maurer-Morelli; Vera Lúcia Gil-da-Silva-Lopes
Journal:  J Hum Genet       Date:  2014-11-13       Impact factor: 3.172

3.  Rare CNVs and tag SNPs at 15q11.2 are associated with schizophrenia in the Han Chinese population.

Authors:  Qian Zhao; Tao Li; XinZhi Zhao; Ke Huang; Ti Wang; ZhiQiang Li; Jue Ji; Zhen Zeng; Zhao Zhang; Kan Li; GuoYin Feng; David St Clair; Lin He; YongYong Shi
Journal:  Schizophr Bull       Date:  2012-02-08       Impact factor: 9.306

4.  Association of genetic copy number variations at 11 q14.2 with brain regional volume differences in an alcohol use disorder population.

Authors:  David Boutte; Vince D Calhoun; Jiayu Chen; Amithrupa Sabbineni; Kent Hutchison; Jingyu Liu
Journal:  Alcohol       Date:  2012-06-23       Impact factor: 2.405

5.  Parents' perspectives on participating in genetic research in autism.

Authors:  Magan Trottier; Wendy Roberts; Irene Drmic; Stephen W Scherer; Rosanna Weksberg; Cheryl Cytrynbaum; David Chitayat; Cheryl Shuman; Fiona A Miller
Journal:  J Autism Dev Disord       Date:  2013-03

Review 6.  Copy number variations in schizophrenia: critical review and new perspectives on concepts of genetics and disease.

Authors:  Anne S Bassett; Stephen W Scherer; Linda M Brzustowicz
Journal:  Am J Psychiatry       Date:  2010-05-03       Impact factor: 18.112

7.  A definitive haplotype map as determined by genotyping duplicated haploid genomes finds a predominant haplotype preference at copy-number variation events.

Authors:  Yoji Kukita; Koji Yahara; Tomoko Tahira; Koichiro Higasa; Miki Sonoda; Ken Yamamoto; Kiyoko Kato; Norio Wake; Kenshi Hayashi
Journal:  Am J Hum Genet       Date:  2010-05-27       Impact factor: 11.025

8.  cnvHap: an integrative population and haplotype-based multiplatform model of SNPs and CNVs.

Authors:  Lachlan J M Coin; Julian E Asher; Robin G Walters; Julia S El-Sayed Moustafa; Adam J de Smith; Rob Sladek; David J Balding; Philippe Froguel; Alexandra I F Blakemore
Journal:  Nat Methods       Date:  2010-05-30       Impact factor: 28.547

Review 9.  Stem cells and modeling of autism spectrum disorders.

Authors:  Beatriz C G Freitas; Cleber A Trujillo; Cassiano Carromeu; Marianna Yusupova; Roberto H Herai; Alysson R Muotri
Journal:  Exp Neurol       Date:  2012-10-02       Impact factor: 5.330

10.  Statistical mechanical model of coupled transcription from multiple promoters due to transcription factor titration.

Authors:  Mattias Rydenfelt; Robert Sidney Cox; Hernan Garcia; Rob Phillips
Journal:  Phys Rev E Stat Nonlin Soft Matter Phys       Date:  2014-01-06
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