CNVs leading to fusion transcripts in individuals with autism spectrum disorder

CNVs leading to fusion transcripts in individuals with autism spectrum disorder

他のバージョン（1件）を表示する

There is strong evidence that rare copy number variants (CNVs) have a role in susceptibility to autism spectrum disorders (ASDs). Much research has focused on how CNVs mediate a phenotypic effect by altering gene expression levels. We investigated an alternative mechanism whereby CNVs combine the 5′...

書誌詳細
主要な著者:	Holt, R, Sykes, N, Conceição, I, Cazier, J, Anney, R, Oliveira, G, Gallagher, L, Vicente, A, Monaco, A, Pagnamenta, A
フォーマット:	Journal article
言語:	English
出版事項:	2012

類似資料

CNVs leading to fusion transcripts in individuals with autism spectrum disorder.
著者:: Holt, R, 等
出版事項: (2012)

Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank
著者:: Chloe X. Yap, 等
出版事項: (2021-02-01)

Multiple Recurrent Copy Number Variations (CNVs) in Chromosome 22 Including 22q11.2 Associated with Autism Spectrum Disorder
著者:: Alhazmi S, 等
出版事項: (2022-07-01)

Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry.
著者:: Sousa, I, 等
出版事項: (2010)

MLPA is a practical and complementary alternative to CMA for diagnostic testing in patients with autism spectrum disorders and identifying new candidate CNVs associated with autism
著者:: Pavlina Capkova, 等
出版事項: (2019-01-01)

Copy number variations (CNVs) identified in Korean individuals
著者:: Kim Yong, 等
出版事項: (2008-10-01)

Concomitant CNVs in healthy carriers with 7q31.1 microdeletions may suppress intellectual disability and autism spectrum disorders phenotype
著者:: E. Belyaeva, 等
出版事項: (2022-06-01)

Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.
著者:: Danielle P Moreira, 等
出版事項: (2014-01-01)

A deletion involving CD38 and BST1 results in a fusion transcript in a patient with autism and asthma.
著者:: Ceroni, F, 等
出版事項: (2014)

A Deletion Involving CD38 and BST1 Results in a Fusion Transcript in a Patient With Autism and Asthma
著者:: Ceroni, F, 等
出版事項: (2014)

Candidate genes and biological processes in de novo CNVs from autistic individuals
著者:: Noh, H, 等
出版事項: (2010)

Individual common variants exert weak effects on the risk for autism spectrum disorderspi.
著者:: Anney, R, 等
出版事項: (2012)

Functional impact of global rare copy number variation in autism spectrum disorders.
著者:: Pinto, D, 等
出版事項: (2010)

CNVs are associated with genomic architecture in a songbird
著者:: Vinicius H. da Silva, 等
出版事項: (2018-03-01)

A snapshot of CNVs in the pig genome.
著者:: João Fadista, 等
出版事項: (2008-01-01)

De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.
著者:: Babbs, C, 等
出版事項: (2014)

Self-processing in individuals with autism spectrum disorder
著者:: Nijhof, A, 等
出版事項: (2019)

Prevalence of CNVs on the X chromosome in patients with neurodevelopmental disorders
著者:: Ekaterina N. Tolmacheva, 等
出版事項: (2025-02-01)

NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation
著者:: Vincenzo A Gennarino, 等
出版事項: (2015-08-01)

Autism genetic database (AGD): a comprehensive database including autism susceptibility gene-CNVs integrated with known noncoding RNAs and fragile sites
著者:: Talebizadeh Zohreh, 等
出版事項: (2009-09-01)

CNVs in Obesity: Uncovering a New Level of Genomic Variation
著者:: Moustafa, J, 等
出版事項: (2009)

Wnt/β-Catenin-Dependent Transcription in Autism Spectrum Disorders
著者:: Mario O. Caracci, 等
出版事項: (2021-11-01)

Identification and validation of novel genomic CNVs associated with Type 2 diabetes
著者:: Buxton, J, 等
出版事項: (2009)

A patient`s trajectory with autism spectrum disorder leading to forensic psychiatric institutionalisation
著者:: J. A. Déri, 等
出版事項: (2024-04-01)

Identification of CNVs and their association with the meat traits of Hanwoo
著者:: Chan Mi Bang, 等
出版事項: (2023-09-01)

<it>"GenotypeColour™"</it>: colour visualisation of SNPs and CNVs
著者:: Magri Chiara, 等
出版事項: (2009-02-01)

Patterns of EEG Activity in Individuals with Autism Spectrum Disorders
著者:: Zhukova M.A.,
出版事項: (2016-10-01)

Similarity hypothesis: Understanding of others with autism spectrum disorders by individuals with autism spectrum disorders
著者:: Hidetsugu eKomeda, 等
出版事項: (2015-03-01)

Assessment of burden and segregation profiles of CNVs in patients with epilepsy
著者:: Claudia Moreau, 等
出版事項: (2022-07-01)

Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry
著者:: Sousa Inês, 等
出版事項: (2010-03-01)

Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders.
著者:: Anney, R, 等
出版事項: (2011)

A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3
著者:: Pagnamenta, A, 等
出版事項: (2011)

A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3.
著者:: Pagnamenta, A, 等
出版事項: (2011)

A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3.
著者:: Pagnamenta, A, 等
出版事項: (2011)

cnvHap: an integrative population and haplotype-based multiplatform model of SNPs and CNVs.
著者:: Coin, L, 等
出版事項: (2010)

Linkage and candidate gene studies of autism spectrum disorders in European populations.
著者:: Holt, R, 等
出版事項: (2010)

Accurate distinction of pathogenic from benign CNVs in mental retardation.
著者:: Jayne Y Hehir-Kwa, 等
出版事項: (2010-04-01)

A genome-wide investigation of SNPs and CNVs in schizophrenia.
著者:: Anna C Need, 等
出版事項: (2009-02-01)

Cognitive functioning in the parents of individuals with an autism spectrum disorder
著者:: Maybery, M, 等
出版事項: (2003)

Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection.
著者:: Sykes, N, 等
出版事項: (2009)