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Structural variation of the malaria-associated human glycophorin A-B-E region.
- Published in:
- BMC Genomics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12864-020-06849-8
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- Publication type:
- Article
Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats.
- Published in:
- Nucleic Acids Research, 2007, v. 35, n. 3, p. e19, doi. 10.1093/nar/gkl1089
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- Publication type:
- Article
A comparison of software for analysis of rare and common short tandem repeat (STR) variation using human genome sequences from clinical and population-based samples.
- Published in:
- PLoS ONE, 2024, v. 19, n. 4, p. 1, doi. 10.1371/journal.pone.0300545
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- Publication type:
- Article
Psoriasis is associated with increased β-defensin genomic copy number.
- Published in:
- Nature Genetics, 2008, v. 40, n. 1, p. 23, doi. 10.1038/ng.2007.48
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- Publication type:
- Article
Analysis of copy number variation at DMBT1 and age-related macular degeneration.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0311-5
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- Publication type:
- Article
Gene fusions during the early evolution of mesothelioma correlate with impaired DNA repair and Hippo pathways.
- Published in:
- Genes, Chromosomes & Cancer, 2024, v. 63, n. 1, p. 1, doi. 10.1002/gcc.23189
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- Publication type:
- Article
DeepPheWAS: an R package for phenotype generation and association analysis for phenome-wide association studies.
- Published in:
- Bioinformatics, 2023, v. 39, n. 4, p. 1, doi. 10.1093/bioinformatics/btad073
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- Publication type:
- Article
Genome-wide association study of thyroid-stimulating hormone highlights new genes, pathways and associations with thyroid disease.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-42284-5
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- Publication type:
- Article
Evaluation of High-Throughput Genomic Assays for the Fc Gamma Receptor Locus.
- Published in:
- PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0142379
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- Publication type:
- Article
A Comparison of Assays for Accurate Copy Number Measurement of the Low-Affinity Fc Gamma Receptor Genes FCGR3A and FCGR3B.
- Published in:
- PLoS ONE, 2015, v. 10, n. 1, p. 1, doi. 10.1371/journal.pone.0116791
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- Publication type:
- Article
Copy Number Variation of the Beta Defensin Gene Cluster on Chromosome 8p Influences the Bacterial Microbiota within the Nasopharynx of Otitis-Prone Children.
- Published in:
- PLoS ONE, 2014, v. 9, n. 5, p. 1, doi. 10.1371/journal.pone.0098269
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- Publication type:
- Article
Copy Number Variation of the Beta-Defensin Genes in Europeans: No Supporting Evidence for Association with Lung Function, Chronic Obstructive Pulmonary Disease or Asthma.
- Published in:
- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0084192
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- Publication type:
- Article
Copy Number Variation of Fc Gamma Receptor Genes in HIV-Infected and HIV-Tuberculosis Co-Infected Individuals in Sub-Saharan Africa.
- Published in:
- PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0078165
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- Publication type:
- Article
Determination of Beta-Defensin Genomic Copy Number in Different Populations: A Comparison of Three Methods.
- Published in:
- PLoS ONE, 2011, v. 6, n. 2, p. 1, doi. 10.1371/journal.pone.0016768
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- Publication type:
- Article
β-Defensin-2 Protein Is a Serum Biomarker for Disease Activity in Psoriasis and Reaches Biologically Relevant Concentrations in Lesional Skin.
- Published in:
- PLoS ONE, 2009, v. 4, n. 3, p. 1, doi. 10.1371/journal.pone.0004725
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- Publication type:
- Article
Exome-wide analysis of copy number variation shows association of the human leukocyte antigen region with asthma in UK Biobank.
- Published in:
- BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01268-y
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- Publication type:
- Article
β-defensin Genomic Copy Number Is Associated With HIV Load and Immune Reconstitution in Sub-Saharan Africans.
- Published in:
- Journal of Infectious Diseases, 2012, v. 206, n. 7, p. 1012, doi. 10.1093/infdis/jis448
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- Publication type:
- Article
CCL3L1 copy number, HIV load, and immune reconstitution in sub-Saharan Africans.
- Published in:
- BMC Infectious Diseases, 2013, v. 13, n. 1, p. 1, doi. 10.1186/1471-2334-13-536
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- Publication type:
- Article
CCL3L1 copy number, HIV load, and immune reconstitution in sub-Saharan Africans.
- Published in:
- 2013
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- Publication type:
- journal article
Complement receptor 1 gene (<italic>CR1</italic>) intragenic duplication and risk of Alzheimer’s disease.
- Published in:
- Human Genetics, 2018, v. 137, n. 4, p. 305, doi. 10.1007/s00439-018-1883-2
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- Publication type:
- Article
Expansion of a 12-kb VNTR containing the REXO1L1 gene cluster underlies the microscopically visible euchromatic variant of 8q21.2.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 4, p. 458, doi. 10.1038/ejhg.2013.185
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- Publication type:
- Article
Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 10, p. 1131, doi. 10.1038/sj.ejhg.5201475
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- Publication type:
- Article
No evidence for DNA copy number change associated with the DUP25 cytogenetic phenotype.
- Published in:
- 2003
- By:
- Publication type:
- Letter
Common polymorphism in a highly variable region upstream of the human lactase gene affects DNA-protein interactions.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 7, p. 791, doi. 10.1038/sj.ejhg.5200369
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- Publication type:
- Article
Fcγ receptors: genetic variation, function, and disease.
- Published in:
- Immunological Reviews, 2015, v. 268, n. 1, p. 6, doi. 10.1111/imr.12341
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- Publication type:
- Article
Deleted in malignant brain tumor 1 genetic variation confers urinary tract infection risk in children and mice.
- Published in:
- Clinical & Translational Medicine, 2021, v. 11, n. 7, p. 1, doi. 10.1002/ctm2.477
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- Publication type:
- Article
Human intelectin‐2 (ITLN2) is selectively expressed by secretory Paneth cells.
- Published in:
- FASEB Journal, 2022, v. 36, n. 3, p. 1, doi. 10.1096/fj.202101870R
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- Publication type:
- Article
Genetic variation of glycophorins and infectious disease.
- Published in:
- Immunogenetics, 2023, v. 75, n. 3, p. 201, doi. 10.1007/s00251-022-01280-7
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- Publication type:
- Article
Evidence of Convergent Evolution in Humans and Macaques Supports an Adaptive Role for Copy Number Variation of the β-Defensin-2 Gene.
- Published in:
- Genome Biology & Evolution, 2014, v. 6, n. 11, p. 3025, doi. 10.1093/gbe/evu236
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- Publication type:
- Article
Genotyping complex structural variation at the malaria‐associated human glycophorin locus using a PCR‐based strategy.
- Published in:
- Annals of Human Genetics, 2021, v. 85, n. 1, p. 7, doi. 10.1111/ahg.12405
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- Publication type:
- Article
No Evidence for Association of β-Defensin Genomic Copy Number with HIV Susceptibility, HIV Load during Clinical Latency, or Progression to AIDS.
- Published in:
- Annals of Human Genetics, 2017, v. 81, n. 1, p. 27, doi. 10.1111/ahg.12182
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- Publication type:
- Article
Beta-defensin genomic copy number is not a modifier locus for cystic fibrosis.
- Published in:
- Journal of Negative Results in Biomedicine, 2005, v. 4, p. 9, doi. 10.1186/1477-5751-4-9
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- Publication type:
- Article
Extensive variation in the intelectin gene family in laboratory and wild mouse strains.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-94679-3
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- Publication type:
- Article
Human intelectin-1 (ITLN1) genetic variation and intestinal expression.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-92198-9
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- Publication type:
- Article
Immunocytochemical detection of ERG expression in exfoliated urinary cells identifies with high specificity patients with prostate cancer.
- Published in:
- BJU International, 2016, v. 117, n. 4, p. 686, doi. 10.1111/bju.13184
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- Publication type:
- Article
Copy-number variation of the neuronal glucose transporter gene SLC2A3 and age of onset in Huntington's disease.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 12, p. 3129
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- Publication type:
- Article
A Common Mutation in the Defensin DEFB126 Causes Impaired Sperm Function and Subfertility.
- Published in:
- Science Translational Medicine, 2011, v. 3, n. 92, p. 1, doi. 10.1126/scitranslmed.3002289
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- Publication type:
- Article
Correction: Evaluation of High-Throughput Genomic Assays for the Fc Gamma Receptor Locus.
- Published in:
- 2016
- By:
- Publication type:
- Correction Notice
Understanding the Genomic Structure of Copy-Number Variation of the Low-Affinity Fcγ Receptor Region Allows Confirmation of the Association of FCGR3B Deletion with Rheumatoid Arthritis.
- Published in:
- Human Mutation, 2017, v. 38, n. 4, p. 390, doi. 10.1002/humu.23159
- By:
- Publication type:
- Article
A worldwide analysis of beta-defensin copy number variation suggests recent selection of a high-expressing DEFB103 gene copy in East Asia.
- Published in:
- Human Mutation, 2011, v. 32, n. 7, p. 743, doi. 10.1002/humu.21491
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- Publication type:
- Article
Assessment of complement C4 gene copy number using the paralog ratio test.
- Published in:
- Human Mutation, 2010, v. 31, n. 7, p. 866, doi. 10.1002/humu.21259
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- Publication type:
- Article
An integrated approach for measuring copy number variation at the FCGR3 (CD16) locus.
- Published in:
- 2009
- By:
- Publication type:
- Other
Copy number polymorphism and expression level variation of the human α-defensin genes DEFA1 and DEFA3.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 14, p. 2045, doi. 10.1093/hmg/ddi209
- By:
- Publication type:
- Article
Determining multiallelic complex copy number and sequence variation from high coverage exome sequencing data.
- Published in:
- BMC Genomics, 2015, v. 16, p. 1, doi. 10.1186/s12864-015-2123-y
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- Publication type:
- Article
Directional and balancing selection in human beta-defensins.
- Published in:
- BMC Evolutionary Biology, 2008, v. 8, p. 1, doi. 10.1186/1471-2148-8-113
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- Publication type:
- Article
Automated design of paralogue ratio test assays for the accurate and rapid typing of copy number variation.
- Published in:
- Bioinformatics, 2013, v. 29, n. 16, p. 1997, doi. 10.1093/bioinformatics/btt330
- By:
- Publication type:
- Article
Editorial: β-Defensins and Crohn's Disease: Confusion From Counting Copies.
- Published in:
- American Journal of Gastroenterology (Springer Nature), 2010, v. 105, n. 2, p. 360, doi. 10.1038/ajg.2009.573
- By:
- Publication type:
- Article
A 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardation.
- Published in:
- BMC Medical Genetics, 2004, v. 5, p. 21, doi. 10.1186/1471-2350-5-21
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- Publication type:
- Article