CNVs leading to fusion transcripts in individuals with autism spectrum disorder

CNVs leading to fusion transcripts in individuals with autism spectrum disorder

Diğer sürümleri göster (1)

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′...

Detaylı Bibliyografya
Asıl Yazarlar:	Holt, R, Sykes, N, Conceição, I, Cazier, J, Anney, R, Oliveira, G, Gallagher, L, Vicente, A, Monaco, A, Pagnamenta, A
Materyal Türü:	Journal article
Dil:	English
Baskı/Yayın Bilgisi:	2012

Benzer Materyaller

CNVs leading to fusion transcripts in individuals with autism spectrum disorder.
Yazar:: Holt, R, ve diğerleri
Baskı/Yayın Bilgisi: (2012)

Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank
Yazar:: Chloe X. Yap, ve diğerleri
Baskı/Yayın Bilgisi: (2021-02-01)

Multiple Recurrent Copy Number Variations (CNVs) in Chromosome 22 Including 22q11.2 Associated with Autism Spectrum Disorder
Yazar:: Alhazmi S, ve diğerleri
Baskı/Yayın Bilgisi: (2022-07-01)

Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry.
Yazar:: Sousa, I, ve diğerleri
Baskı/Yayın Bilgisi: (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
Yazar:: Pavlina Capkova, ve diğerleri
Baskı/Yayın Bilgisi: (2019-01-01)

Copy number variations (CNVs) identified in Korean individuals
Yazar:: Kim Yong, ve diğerleri
Baskı/Yayın Bilgisi: (2008-10-01)

Concomitant CNVs in healthy carriers with 7q31.1 microdeletions may suppress intellectual disability and autism spectrum disorders phenotype
Yazar:: E. Belyaeva, ve diğerleri
Baskı/Yayın Bilgisi: (2022-06-01)

Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.
Yazar:: Danielle P Moreira, ve diğerleri
Baskı/Yayın Bilgisi: (2014-01-01)

A deletion involving CD38 and BST1 results in a fusion transcript in a patient with autism and asthma.
Yazar:: Ceroni, F, ve diğerleri
Baskı/Yayın Bilgisi: (2014)

A Deletion Involving CD38 and BST1 Results in a Fusion Transcript in a Patient With Autism and Asthma
Yazar:: Ceroni, F, ve diğerleri
Baskı/Yayın Bilgisi: (2014)

Candidate genes and biological processes in de novo CNVs from autistic individuals
Yazar:: Noh, H, ve diğerleri
Baskı/Yayın Bilgisi: (2010)

Individual common variants exert weak effects on the risk for autism spectrum disorderspi.
Yazar:: Anney, R, ve diğerleri
Baskı/Yayın Bilgisi: (2012)

Functional impact of global rare copy number variation in autism spectrum disorders.
Yazar:: Pinto, D, ve diğerleri
Baskı/Yayın Bilgisi: (2010)

CNVs are associated with genomic architecture in a songbird
Yazar:: Vinicius H. da Silva, ve diğerleri
Baskı/Yayın Bilgisi: (2018-03-01)

A snapshot of CNVs in the pig genome.
Yazar:: João Fadista, ve diğerleri
Baskı/Yayın Bilgisi: (2008-01-01)

De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.
Yazar:: Babbs, C, ve diğerleri
Baskı/Yayın Bilgisi: (2014)

Self-processing in individuals with autism spectrum disorder
Yazar:: Nijhof, A, ve diğerleri
Baskı/Yayın Bilgisi: (2019)

Prevalence of CNVs on the X chromosome in patients with neurodevelopmental disorders
Yazar:: Ekaterina N. Tolmacheva, ve diğerleri
Baskı/Yayın Bilgisi: (2025-02-01)

NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation
Yazar:: Vincenzo A Gennarino, ve diğerleri
Baskı/Yayın Bilgisi: (2015-08-01)

Autism genetic database (AGD): a comprehensive database including autism susceptibility gene-CNVs integrated with known noncoding RNAs and fragile sites
Yazar:: Talebizadeh Zohreh, ve diğerleri
Baskı/Yayın Bilgisi: (2009-09-01)

CNVs in Obesity: Uncovering a New Level of Genomic Variation
Yazar:: Moustafa, J, ve diğerleri
Baskı/Yayın Bilgisi: (2009)

Wnt/β-Catenin-Dependent Transcription in Autism Spectrum Disorders
Yazar:: Mario O. Caracci, ve diğerleri
Baskı/Yayın Bilgisi: (2021-11-01)

Identification and validation of novel genomic CNVs associated with Type 2 diabetes
Yazar:: Buxton, J, ve diğerleri
Baskı/Yayın Bilgisi: (2009)

A patient`s trajectory with autism spectrum disorder leading to forensic psychiatric institutionalisation
Yazar:: J. A. Déri, ve diğerleri
Baskı/Yayın Bilgisi: (2024-04-01)

Identification of CNVs and their association with the meat traits of Hanwoo
Yazar:: Chan Mi Bang, ve diğerleri
Baskı/Yayın Bilgisi: (2023-09-01)

<it>"GenotypeColour™"</it>: colour visualisation of SNPs and CNVs
Yazar:: Magri Chiara, ve diğerleri
Baskı/Yayın Bilgisi: (2009-02-01)

Patterns of EEG Activity in Individuals with Autism Spectrum Disorders
Yazar:: Zhukova M.A.,
Baskı/Yayın Bilgisi: (2016-10-01)

Similarity hypothesis: Understanding of others with autism spectrum disorders by individuals with autism spectrum disorders
Yazar:: Hidetsugu eKomeda, ve diğerleri
Baskı/Yayın Bilgisi: (2015-03-01)

Assessment of burden and segregation profiles of CNVs in patients with epilepsy
Yazar:: Claudia Moreau, ve diğerleri
Baskı/Yayın Bilgisi: (2022-07-01)

Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry
Yazar:: Sousa Inês, ve diğerleri
Baskı/Yayın Bilgisi: (2010-03-01)

Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders.
Yazar:: Anney, R, ve diğerleri
Baskı/Yayın Bilgisi: (2011)

A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3
Yazar:: Pagnamenta, A, ve diğerleri
Baskı/Yayın Bilgisi: (2011)

A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3.
Yazar:: Pagnamenta, A, ve diğerleri
Baskı/Yayın Bilgisi: (2011)

A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3.
Yazar:: Pagnamenta, A, ve diğerleri
Baskı/Yayın Bilgisi: (2011)

cnvHap: an integrative population and haplotype-based multiplatform model of SNPs and CNVs.
Yazar:: Coin, L, ve diğerleri
Baskı/Yayın Bilgisi: (2010)

Linkage and candidate gene studies of autism spectrum disorders in European populations.
Yazar:: Holt, R, ve diğerleri
Baskı/Yayın Bilgisi: (2010)

Accurate distinction of pathogenic from benign CNVs in mental retardation.
Yazar:: Jayne Y Hehir-Kwa, ve diğerleri
Baskı/Yayın Bilgisi: (2010-04-01)

A genome-wide investigation of SNPs and CNVs in schizophrenia.
Yazar:: Anna C Need, ve diğerleri
Baskı/Yayın Bilgisi: (2009-02-01)

Cognitive functioning in the parents of individuals with an autism spectrum disorder
Yazar:: Maybery, M, ve diğerleri
Baskı/Yayın Bilgisi: (2003)

Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection.
Yazar:: Sykes, N, ve diğerleri
Baskı/Yayın Bilgisi: (2009)