Works matching DE "DNA copy number variations"
Results: 3089
Copy number variants underlie major selective sweeps in insecticide resistance genes in Anopheles arabiensis.
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- PLoS Biology, 2024, v. 22, n. 12, p. 1, doi. 10.1371/journal.pbio.3002898
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- Article
A pan-genome data structure induced by pooled sequencing facilitates variant mining in heterogeneous germplasm.
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- Molecular Breeding, 2022, v. 42, n. 7, p. 1, doi. 10.1007/s11032-022-01308-6
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- Article
Genetic Contribution to Congenital Heart Disease (CHD).
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- Pediatric Cardiology, 2020, v. 41, n. 1, p. 12, doi. 10.1007/s00246-019-02271-4
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- Article
Rare Copy Number Variations Might Not be Involved in the Molecular Pathogenesis of PA–IVS in an Unselected Chinese Cohort.
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- Pediatric Cardiology, 2019, v. 40, n. 4, p. 762, doi. 10.1007/s00246-019-02062-x
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- Publication type:
- Article
Identification of De Novo and Rare Inherited Copy Number Variants in Children with Syndromic Congenital Heart Defects.
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- Pediatric Cardiology, 2018, v. 39, n. 5, p. 924, doi. 10.1007/s00246-018-1842-7
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- Article
Duplication and Deletion of 22q11 Associated with Anomalous Pulmonary Venous Connection.
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- Pediatric Cardiology, 2018, v. 39, n. 3, p. 585, doi. 10.1007/s00246-017-1794-3
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- Article
Identification of Copy Number Variations in Isolated Tetralogy of Fallot.
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- Pediatric Cardiology, 2015, v. 36, n. 8, p. 1642, doi. 10.1007/s00246-015-1210-9
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- Article
Best Practices in Microbial Experimental Evolution.
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- Journal of Molecular Evolution, 2023, v. 91, n. 3, p. 237, doi. 10.1007/s00239-023-10119-y
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- Article
Best Practices in Microbial Experimental Evolution: Using Reporters and Long-Read Sequencing to Identify Copy Number Variation in Experimental Evolution.
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- Journal of Molecular Evolution, 2023, v. 91, n. 3, p. 356, doi. 10.1007/s00239-023-10102-7
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- Publication type:
- Article
Detecting Selection on Segregating Gene Duplicates in a Population.
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- Journal of Molecular Evolution, 2021, v. 89, n. 8, p. 554, doi. 10.1007/s00239-021-10024-2
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- Article
An Evolutionary Perspective on the Impact of Genomic Copy Number Variation on Human Health.
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- Journal of Molecular Evolution, 2020, v. 88, n. 1, p. 104, doi. 10.1007/s00239-019-09911-6
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- Article
Osteogenesis Imperfecta Type I Caused by COL1A1 Deletions.
- Published in:
- 2016
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- Publication type:
- journal article
Pineal anlage tumor: a case report and the literature review.
- Published in:
- 2023
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- Publication type:
- Case Study
Indications for genetic testing leading to termination of pregnancy.
- Published in:
- 2019
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- Publication type:
- journal article
Subchromosomal anomalies in small for gestational-age fetuses and newborns.
- Published in:
- 2019
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- Publication type:
- journal article
Rapid brain lymphoma diagnostics through nanopore sequencing of cytology-negative cerebrospinal fluid.
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- Acta Neuropathologica, 2024, v. 148, n. 1, p. 1, doi. 10.1007/s00401-024-02793-z
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- Publication type:
- Article
Integrated genetic analyses of immunodeficiency-associated Epstein-Barr virus- (EBV) positive primary CNS lymphomas.
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- Acta Neuropathologica, 2023, v. 146, n. 3, p. 499, doi. 10.1007/s00401-023-02613-w
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- Publication type:
- Article
Ganglioglioma with adverse clinical outcome and atypical histopathological features were defined by alterations in PTPN11/KRAS/NF1 and other RAS-/MAP-Kinase pathway genes.
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- Acta Neuropathologica, 2023, v. 145, n. 6, p. 815, doi. 10.1007/s00401-023-02561-5
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- Publication type:
- Article
Molecular and clinicopathologic characteristics of gliomas with EP300::BCOR fusions.
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- Acta Neuropathologica, 2022, v. 144, n. 6, p. 1175, doi. 10.1007/s00401-022-02508-2
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- Publication type:
- Article
Genetic and epigenetic profiling identifies two distinct classes of spinal meningiomas.
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- Acta Neuropathologica, 2022, v. 144, n. 5, p. 1057, doi. 10.1007/s00401-022-02504-6
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- Publication type:
- Article
Subgroup and subtype-specific outcomes in adult medulloblastoma.
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- Acta Neuropathologica, 2021, v. 142, n. 5, p. 859, doi. 10.1007/s00401-021-02358-4
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- Publication type:
- Article
Isomorphic diffuse glioma is a morphologically and molecularly distinct tumour entity with recurrent gene fusions of MYBL1 or MYB and a benign disease course.
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- Acta Neuropathologica, 2020, v. 139, n. 1, p. 193, doi. 10.1007/s00401-019-02078-w
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- Publication type:
- Article
Copy number abnormalities in new or progressive 'neurocutaneous melanosis' confirm it to be primary CNS melanoma.
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- 2017
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- Publication type:
- Letter
Copy number variations as potential diagnostic and prognostic markers for CNS melanocytic neoplasms in neurocutaneous melanosis.
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- 2017
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- Publication type:
- Letter
Integrated DNA methylation and copy-number profiling identify three clinically and biologically relevant groups of anaplastic glioma.
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- Acta Neuropathologica, 2014, v. 128, n. 4, p. 561, doi. 10.1007/s00401-014-1315-x
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- Publication type:
- Article
Whole genomes redefine the mutational landscape of pancreatic cancer.
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- Nature, 2015, v. 518, n. 7540, p. 495, doi. 10.1038/nature14169
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- Publication type:
- Article
Zylka et al. reply.
- Published in:
- Nature, 2014, v. 512, n. 7512, p. E2, doi. 10.1038/nature13584
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- Publication type:
- Article
Bias towards large genes in autism.
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- Nature, 2014, v. 512, n. 7512, p. E1, doi. 10.1038/nature13583
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- Article
Cancer: Directions for the drivers.
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- Nature, 2014, v. 512, n. 7512, p. 31, doi. 10.1038/nature13649
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- Article
Genome sequencing identifies major causes of severe intellectual disability.
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- Nature, 2014, v. 511, n. 7509, p. 344, doi. 10.1038/nature13394
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- Publication type:
- Article
Perspective: Revealing molecular secrets.
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- Nature, 2014, v. 508, n. 7494, p. S20, doi. 10.1038/508S20a
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- Publication type:
- Article
Neuroscience: Hopping DNA linked to schizophrenia.
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- Nature, 2014, v. 507, n. 7490, p. 11, doi. 10.1038/507011f
- Publication type:
- Article
Optimized Agrobacterium-mediated sorghum transformation protocol and molecular data of transgenic sorghum plants.
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- In Vitro Cellular & Developmental Biology Plant, 2014, v. 50, n. 1, p. 9, doi. 10.1007/s11627-013-9583-z
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- Publication type:
- Article
The Prognostic Value of Copy Number Variations and Gene Mutations in Glioblastoma: Insights from a Large-Scale Bioinformatic Study.
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- International Journal of High School Research, 2024, v. 6, n. 10, p. 61, doi. 10.36838/v6i10.8
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- Publication type:
- Article
Development and validation of an HPLC-UV method for purity determination of DNA.
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- Medicine Science, 2023, v. 12, n. 3, p. 876, doi. 10.5455/medscience.2023.06.088
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- Publication type:
- Article
Joint universal modular plasmids (JUMP): a flexible vector platform for synthetic biology.
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- Synthetic Biology (23977000), 2021, v. 6, n. 1, p. 1, doi. 10.1093/synbio/ysab003
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- Publication type:
- Article
Postmortem CYP2D6 Genotyping and Copy Number Determinations Using DNA Extracted from Archived FTA Bloodstains.
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- Journal of Analytical Toxicology, 2019, v. 43, n. 5, p. 411, doi. 10.1093/jat/bkz008
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- Publication type:
- Article
High-depth whole-genome sequencing identifies structure variants, copy number variants and short tandem repeats associated with Parkinson's disease.
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- NPJ Parkinson's Disease, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41531-024-00722-1
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- Publication type:
- Article
Copy number variants in the context of evolving psychogenomic understanding.
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- BJPsych Advances, 2023, v. 29, n. 1, p. 71, doi. 10.1192/bja.2022.13
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- Publication type:
- Article
What a psychiatrist needs to know about copy number variants.
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- BJPsych Advances, 2015, v. 21, n. 3, p. 157, doi. 10.1192/apt.bp.113.012039
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- Publication type:
- Article
Detection of kinase ampliications in gastric adenocarcinomas.
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- Turkish Journal of Medical Sciences, 2014, v. 44, n. 3, p. 461, doi. 10.3906/sag-1303-139
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- Publication type:
- Article
Analysis of KAL1, FGFR1, GPR54, and NELF copy number variations by multiplex ligation dependent probe amplification in male patients with idiopathic hypogonadotropic hypogonadism.
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- Turkish Journal of Medical Sciences, 2013, v. 43, n. 5, p. 726, doi. 10.3906/sag-1208-1
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- Publication type:
- Article
Copy Number Variation in Schizophrenia.
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- Neuropsychopharmacology, 2015, v. 40, n. 1, p. 252, doi. 10.1038/npp.2014.216
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- Publication type:
- Article
Common genes in neurodevelopment and immune-inflammatory pathways impacted in schizophrenia?
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- European Psychiatry, 2020, v. 63, p. S710
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- Publication type:
- Article
Copy number variation of satellite III (1Q12) in patients with schizophrenia.
- Published in:
- European Psychiatry, 2020, v. 63, p. S32
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- Publication type:
- Article
Cnv in silver nanoparticles-primed hyperactive rats.
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- European Psychiatry, 2020, v. 63, p. S409
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- Publication type:
- Article
Implications of DNA copy number variations in attention-deficit/hyperactivity disorder: An update review.
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- European Psychiatry, 2016, v. 33, p. S578, doi. 10.1016/j.eurpsy.2016.01.1700
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- Publication type:
- Article
Detection of CYP2D6 polymorphism using Luminex xTAG technology in autism spectrum disorder: CYP2D6 activity score and its association with risperidone levels.
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- European Psychiatry, 2016, v. 33, p. S95, doi. 10.1016/j.eurpsy.2016.01.061
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- Publication type:
- Article
Epigenetic and genetic alterations for early detection of pre-cancerous ovarian lesions.
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- Oncolog-Hematolog, 2023, n. 64, p. 43
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- Publication type:
- Article
Predicting survival of cancer patients by chromosomal copy number heterogeneity.
- Published in:
- Molecular & Cellular Oncology, 2021, v. 8, n. 4, p. 1, doi. 10.1080/23723556.2021.1949956
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- Publication type:
- Article