Works matching DE "DNA copy number variations"
Results: 3079
Case Report: a novel CYP27A1 gene variant in a patient with cerebrotendinous xanthomatosis with unusual clinical findings.
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- International Journal of Neuroscience, 2025, v. 135, n. 3, p. 358, doi. 10.1080/00207454.2023.2300735
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- Publication type:
- Article
16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of ANKRD11 Cause KBG Syndrome.
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- Genes, 2025, v. 16, n. 2, p. 136, doi. 10.3390/genes16020136
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- Publication type:
- Article
Screening for PRKN and PINK1 mutations in Ecuadorian patients with early-onset Parkinson's Disease.
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- Polish Journal of Neurology & Neurosurgery / Neurologia i Neurochirurgia Polska, 2025, v. 59, n. 1, p. 56, doi. 10.5603/pjnns.104123
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- Publication type:
- Article
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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- Publication type:
- Article
Analysis of a DNA region from low-copy-number plasmid pYAN-1 of Sphingobium yanoikuyae responsible for plasmid stability.
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- Bioscience, Biotechnology & Biochemistry, 2014, v. 78, n. 3, p. 510, doi. 10.1080/09168451.2014.890029
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- Publication type:
- Article
Genomic analysis across 53 canine cancer types reveals novel mutations and high clinical actionability potential.
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- Veterinary & Comparative Oncology, 2024, v. 22, n. 1, p. 30, doi. 10.1111/vco.12944
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- Publication type:
- Article
Integrated analysis of transcriptome, methylome and copy number aberrations data of marginal zone lymphoma and follicular lymphoma in dog.
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- Veterinary & Comparative Oncology, 2020, v. 18, n. 4, p. 645, doi. 10.1111/vco.12588
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- Publication type:
- Article
Reversible Covalent Stabilization of Stacking Contacts in DNA Assemblies.
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- Angewandte Chemie, 2019, v. 131, n. 9, p. 2706, doi. 10.1002/ange.201812463
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- Publication type:
- Article
The genomic proliferation of transposable elements in colonizing populations: Schistosoma mansoni in the new world.
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- Genetica, 2015, v. 143, n. 3, p. 287, doi. 10.1007/s10709-015-9825-6
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- Publication type:
- Article
Genome-wide characteristics of copy number variation in Polish Holstein and Polish Red cattle using SNP genotyping assay.
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- Genetica, 2015, v. 143, n. 2, p. 145, doi. 10.1007/s10709-015-9822-9
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- Publication type:
- Article
A genome-wide detection of copy number variation using SNP genotyping arrays in Beijing-You chickens.
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- Genetica, 2014, v. 142, n. 5, p. 441, doi. 10.1007/s10709-014-9788-z
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- Publication type:
- Article
Using droplet digital PCR (ddPCR) to detect copy number variation in sugarcane, a high-level polyploid.
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- Euphytica, 2016, v. 209, n. 2, p. 439, doi. 10.1007/s10681-016-1657-7
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- Publication type:
- Article
Detection of copy number variations by pair analysis using next-generation sequencing data in inherited kidney diseases.
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- Clinical & Experimental Nephrology, 2018, v. 22, n. 4, p. 881, doi. 10.1007/s10157-018-1534-x
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- Publication type:
- Article
Targeted exome sequencing in anti-factor H antibody negative HUS reveals multiple variations.
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- Clinical & Experimental Nephrology, 2018, v. 22, n. 3, p. 653, doi. 10.1007/s10157-017-1478-6
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- Publication type:
- Article
Quantitative single-molecule localization microscopy combined with rule-based modeling reveals ligand-induced TNF-R1 reorganization toward higher-order oligomers.
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- Histochemistry & Cell Biology, 2014, v. 142, n. 1, p. 91, doi. 10.1007/s00418-014-1195-0
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- Publication type:
- Article
Computational detection and experimental validation of segmental duplications and associated copy number variations in water buffalo (Bubalus bubalis).
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- Functional & Integrative Genomics, 2019, v. 19, n. 3, p. 409, doi. 10.1007/s10142-019-00657-4
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- Publication type:
- Article
Integrating CNVs into meta-QTL identified GBP4 as positional candidate for adult cattle stature.
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- Functional & Integrative Genomics, 2018, v. 18, n. 5, p. 559, doi. 10.1007/s10142-018-0613-0
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- Publication type:
- Article
Sequence and functional characterization of MIRNA164 promoters from Brassica shows copy number dependent regulatory diversification among homeologs.
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- Functional & Integrative Genomics, 2018, v. 18, n. 4, p. 369, doi. 10.1007/s10142-018-0598-8
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- Publication type:
- Article
A genome-wide survey reveals a deletion polymorphism associated with resistance to gastrointestinal nematodes in Angus cattle.
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- Functional & Integrative Genomics, 2014, v. 14, n. 2, p. 333, doi. 10.1007/s10142-014-0371-6
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- Publication type:
- Article
Copy number variation-based polymorphism in a new pseudoautosomal region 3 (PAR3) of a human X-chromosome-transposed region (XTR) in the Y chromosome.
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- Functional & Integrative Genomics, 2013, v. 13, n. 3, p. 285, doi. 10.1007/s10142-013-0323-6
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- Publication type:
- Article
c-myc Gene Copy Number Variation in Cervical Exfoliated Cells Detected on Fluorescence in situ Hybridization for Cervical Cancer Screening.
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- 2016
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- Publication type:
- journal article
Measuring copepod naupliar abundance in a subtropical bay using quantitative PCR.
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- Marine Biology, 2013, v. 160, n. 12, p. 3125, doi. 10.1007/s00227-013-2300-y
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- Publication type:
- Article
Single-cell somatic copy number variants in brain using different amplification methods and reference genomes.
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- Communications Biology, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42003-024-06940-w
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- Publication type:
- Article
Combined use of GAP and AOX1 promoters and optimization of culture conditions to enhance expression of Rhizomucor miehei lipase.
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- Journal of Industrial Microbiology & Biotechnology, 2015, v. 42, n. 8, p. 1175, doi. 10.1007/s10295-015-1633-6
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- Publication type:
- Article
Genome organization and assessment of high copy number and increased expression of pectinolytic genes from Penicillium griseoroseum: a potential heterologous system for protein production.
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- Journal of Industrial Microbiology & Biotechnology, 2014, v. 41, n. 10, p. 1571, doi. 10.1007/s10295-014-1486-4
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- Publication type:
- Article
Genetic analysis of preaxial polydactyly: identification of novel variants and the role of ZRS duplications in a Chinese cohort of 102 cases.
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- Human Genetics, 2024, v. 143, n. 12, p. 1433, doi. 10.1007/s00439-024-02709-7
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- Publication type:
- Article
Germline copy number variants and endometrial cancer risk.
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- Human Genetics, 2024, v. 143, n. 12, p. 1481, doi. 10.1007/s00439-024-02707-9
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- Publication type:
- Article
Population history modulates the fitness effects of Copy Number Variation in the Roma.
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- Human Genetics, 2023, v. 142, n. 9, p. 1327, doi. 10.1007/s00439-023-02579-5
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- Publication type:
- Article
Overlapping pathogenic de novo CNVs in neurodevelopmental disorders and congenital anomalies impacting constraint genes regulating early development.
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- Human Genetics, 2023, v. 142, n. 8, p. 1201, doi. 10.1007/s00439-022-02482-5
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- Publication type:
- Article
Rare structural variants, aneuploidies, and mosaicism in individuals with Mullerian aplasia detected by optical genome mapping.
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- Human Genetics, 2023, v. 142, n. 4, p. 483, doi. 10.1007/s00439-023-02522-8
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- Publication type:
- Article
SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing.
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- Human Genetics, 2023, v. 142, n. 2, p. 201, doi. 10.1007/s00439-022-02494-1
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- Publication type:
- Article
Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1.
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- Human Genetics, 2023, v. 142, n. 1, p. 1, doi. 10.1007/s00439-022-02476-3
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- Publication type:
- Article
Trypsinogen (PRSS1 and PRSS2) gene dosage correlates with pancreatitis risk across genetic and transgenic studies: a systematic review and re-analysis.
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- Human Genetics, 2022, v. 141, n. 8, p. 1327, doi. 10.1007/s00439-022-02436-x
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- Publication type:
- Article
Evaluation of copy number variants for genetic hearing loss: a review of current approaches and recent findings.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 387, doi. 10.1007/s00439-021-02365-1
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- Publication type:
- Article
The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 853, doi. 10.1007/s00439-021-02340-w
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- Publication type:
- Article
Analysis of genotype–phenotype relationships in 90 Chinese probands with Waardenburg syndrome.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 839, doi. 10.1007/s00439-021-02301-3
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- Publication type:
- Article
A study of normal copy number variations in Israeli population.
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- Human Genetics, 2021, v. 140, n. 3, p. 553, doi. 10.1007/s00439-020-02225-4
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- Publication type:
- Article
Noninvasive prenatal testing: from aneuploidy to single genes.
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- Human Genetics, 2020, v. 139, n. 9, p. 1141, doi. 10.1007/s00439-019-02061-1
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- Publication type:
- Article
Copy number variation profiling in pharmacogenes using panel-based exome resequencing and correlation to human liver expression.
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- Human Genetics, 2020, v. 139, n. 2, p. 137, doi. 10.1007/s00439-019-02093-7
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- Publication type:
- Article
The rare 13q33–q34 microdeletions: eight new patients and review of the literature.
- Published in:
- Human Genetics, 2019, v. 138, n. 10, p. 1145, doi. 10.1007/s00439-019-02048-y
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- Publication type:
- Article
Copy number variation arising from gene conversion on the human Y chromosome.
- Published in:
- Human Genetics, 2018, v. 137, n. 1, p. 73, doi. 10.1007/s00439-017-1857-9
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- Publication type:
- Article
Automatic characterization of copy number polymorphism using high throughput sequencing.
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- Turkish Journal of Electrical Engineering & Computer Sciences, 2020, v. 28, n. 1, p. 253, doi. 10.3906/elk-1903-135
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- Publication type:
- Article
Single-cell transcriptome reveals the heterogeneity of malignant ductal cells and the prognostic value of REG4 and SPINK1 in primary pancreatic ductal adenocarcinoma.
- Published in:
- PeerJ, 2024, p. 1, doi. 10.7717/peerj.17350
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- Publication type:
- Article
Alterations of the gut microbiota in type 2 diabetics with or without subclinical hypothyroidism.
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- PeerJ, 2023, p. 1, doi. 10.7717/peerj.15193
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- Publication type:
- Article
Prenatal diagnosis of fetuses conceived by assisted reproductive technology by karyotyping and chromosomal microarray analysis.
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- PeerJ, 2023, p. 1, doi. 10.7717/peerj.14678
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- Publication type:
- Article
CNV-P: a machine-learning framework for predicting high confident copy number variations.
- Published in:
- PeerJ, 2021, p. 1, doi. 10.7717/peerj.12564
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- Publication type:
- Article
Differences in the importance of microcephaly, dysmorphism, and epilepsy in the detection of pathogenic CNVs in ID and ASD patients.
- Published in:
- PeerJ, 2019, p. 1, doi. 10.7717/peerj.7979
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- Publication type:
- Article
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.
- Published in:
- PeerJ, 2019, p. 1, doi. 10.7717/peerj.6183
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- Publication type:
- Article
Patterns of CTCF and ZFHX3 Mutation and Associated Outcomes in Endometrial Cancer.
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- 2015
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- Publication type:
- journal article
Genomically Guided Cancer Treatments: From "Promising" to "Clinically Useful".
- Published in:
- 2015
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- Publication type:
- Editorial