Identification and validation of novel genomic CNVs associated with Type 2 diabetes

ग्रंथसूची विवरण
मुख्य लेखकों:	Buxton, J, Coin, L, Walters, R, Andersson, J, de Smith, A, Moustafa, J, Sladek, R, Froguel, P, Blakemore, A
स्वरूप:	Conference item
प्रकाशित:	2009

CNVs in Obesity: Uncovering a New Level of Genomic Variation
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प्रकाशित: (2009)

cnvHap: an integrative population and haplotype-based multiplatform model of SNPs and CNVs.
द्वारा: Coin, L, और अन्य
प्रकाशित: (2010)

Alu elements implicated in the generation of 9/20 CNV deletions investigated by breakpoint sequencing
द्वारा: de Smith, A, और अन्य
प्रकाशित: (2008)

Small deletion variants have stable breakpoints commonly associated with alu elements
द्वारा: De Smith, A, और अन्य
प्रकाशित: (2008)

Novel association approach for variable number tandem repeats (VNTRs) identifies DOCK5 as a susceptibility gene for severe obesity.
द्वारा: El-Sayed Moustafa, J, और अन्य
प्रकाशित: (2012)

Childhood obesity is associated with shorter leukocyte telomere length.
द्वारा: Buxton, J, और अन्य
प्रकाशित: (2011)

CNVs leading to fusion transcripts in individuals with autism spectrum disorder
द्वारा: Holt, R, और अन्य
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CNVs leading to fusion transcripts in individuals with autism spectrum disorder.
द्वारा: Holt, R, और अन्य
प्रकाशित: (2012)

Accurate distinction of pathogenic from benign CNVs in mental retardation.
द्वारा: Hehir-Kwa, J, और अन्य
प्रकाशित: (2010)

famCNV: copy number variant association for quantitative traits in families.
द्वारा: Eleftherohorinou, H, और अन्य
प्रकाशित: (2011)

Prevalence of CNVs on the X chromosome in patients with neurodevelopmental disorders
द्वारा: Ekaterina N. Tolmacheva, और अन्य
प्रकाशित: (2025-02-01)

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls.
द्वारा: Craddock, N, और अन्य
प्रकाशित: (2010)

Human genes involved in copy number variation: mechanisms of origin, functional effects and implications for disease.
द्वारा: de Smith, A, और अन्य
प्रकाशित: (2008)

CNVs into the wild: screening the genomes of conifer trees (Picea spp.) reveals fewer gene copy number variations in hybrids and links to adaptation
द्वारा: Prunier, J, और अन्य
प्रकाशित: (2017)

Irritability in young people with copy number variants associated with neurodevelopmental disorders (ND-CNVs)
द्वारा: Jessica H. Hall, और अन्य
प्रकाशित: (2024-06-01)

Electric Source Localization Adds Evidence for Task-Specific CNVs
द्वारा: Ina M. Tarkka, और अन्य
प्रकाशित: (1998-01-01)

Analysis of CNVs of CFTR gene in Chinese Han population with CBAVD
द्वारा: Chengquan Ma, और अन्य
प्रकाशित: (2020-11-01)

A comprehensive analysis of SNPs and CNVs identifies novel markers associated with disease outcomes in colorectal cancer
द्वारा: Yajun Yu, और अन्य
प्रकाशित: (2021-12-01)

Identification and characterization of copy number variations (CNVs) in dengue patients and its impact with vascular leakage / Zuraihan Zakaria
द्वारा: Zakaria, Zuraihan
प्रकाशित: (2016)

19: Dosage Sensitivity Curation of Recurrent CNVs: A Novel Scoring Metric to Assist Clinical CNV Interpretation
द्वारा: John Herriges, और अन्य
प्रकाशित: (2025-01-01)

Forging links between human mental retardation-associated CNVs and mouse gene knockout models.
द्वारा: Webber, C, और अन्य
प्रकाशित: (2009)

Rare genomic structural variants in complex disease: lessons from the replication of associations with obesity
द्वारा: Walters, R, और अन्य
प्रकाशित: (2013)

Candidate genes and biological processes in de novo CNVs from autistic individuals
द्वारा: Noh, H, और अन्य
प्रकाशित: (2010)

Analysis of parental origin of de novo pathogenic CNVs in patients with intellectual disability
द्वारा: Samara Socorro Silva Pereira, और अन्य
प्रकाशित: (2024-08-01)

NeuroCNVscore: a tissue-specific framework to prioritise the pathogenicity of CNVs in neurodevelopmental disorders
द्वारा: Wei Li, और अन्य
प्रकाशित: (2023-12-01)

P541: Updating patient results for genomic CNVs intersecting dosage sensitive genes on the ACMG secondary findings v3.1 list
द्वारा: Zoe Lewis, और अन्य
प्रकाशित: (2023-01-01)

High positive predictive value of CNVs detected by clinical exome sequencing in suspected genetic diseases
द्वारा: Yimo Zeng, और अन्य
प्रकाशित: (2024-07-01)

P576: Recalibration of scoring metrics to assess the pathogenicity of constitutional copy number variants (CNVs)*
द्वारा: Emily Spector, और अन्य
प्रकाशित: (2024-01-01)

18: Re-evaluation of genomic CNVs overlapping new dosage sensitive genes at an academic reference laboratory in accordance with ClinGen dosage sensitivity curation
द्वारा: Denise I. Quigley, और अन्य
प्रकाशित: (2025-01-01)

Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses
द्वारा: German Demidov, और अन्य
प्रकाशित: (2024-10-01)

P616: Cell-based noninvasive prenatal screening for a comprehensive fetal genome profiling for pathogenic submicroscopic CNVs in circulating trophoblasts from maternal blood
द्वारा: Anna Doffini, और अन्य
प्रकाशित: (2023-01-01)

Investigation of Copy Number Variations (CNVs) in South-East Asia (SEA) Plasmodium falciparum isolates and association with artemisinin resistance.
द्वारा: Guo, Weiliang.
प्रकाशित: (2012)

Clinical Features, Prognosis, and Long-Term Response to Ranibizumab of Macular CNVs in Pattern Dystrophies Spectrum: A Pilot Study
द्वारा: Lorenzo Casillo, और अन्य
प्रकाशित: (2021-01-01)

A genome wide study of copy number variation associated with nasopharyngeal carcinoma in Malaysian Chinese identifies CNVs at 11q14.3 and 6p21.3 as candidate loci
द्वारा: Low, Joyce Siew Yong, और अन्य
प्रकाशित: (2016)

Gene-targeted analysis of copy number variants identifies 3 novel associations with coronary heart disease traits.
द्वारा: Costelloe, S, और अन्य
प्रकाशित: (2012)

X chromosome-linked CNVs in male infertility: discovery of overall duplication load and recurrent, patient-specific gains with potential clinical relevance.
द्वारा: Chiara Chianese, और अन्य
प्रकाशित: (2014-01-01)

Identification and Validation of Novel Metastasis-Related Immune Gene Signature in Breast Cancer
द्वारा: Ma S, और अन्य
प्रकाशित: (2024-04-01)

Identification and validation of novel breed-specific biomarker for the purpose of village chicken authentication using genomics approaches
द्वारा: Nematbakhsh, Sara, और अन्य
प्रकाशित: (2024)

Identification and validation of novel breed-specific biomarker for the purpose of village chicken authentication using genomics approaches
द्वारा: Sara Nematbakhsh, और अन्य
प्रकाशित: (2024-11-01)

Identification and validation of novel genomic CNVs associated with Type 2 diabetes

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