Copy-Number Variations (CNVs)
SLC26A4 gene copy number variations in Chinese patients with non syndromic enlarged vestibular aqueduct
... Copy number variations (CNVs) or copy number poly- morphisms are complex gains or losses of several to hun- dreds of kilobases of DNA as a result of deletions, insertions, duplications, ...
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CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders
... 3 copy number variations (CNVs) involving the CNTN4 gene have been reported to be associated with ASD in a few patients without any other classic 3p deletion syndrome phenotype in three independent ...
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Submicroscopic copy-number variations associated with 46,XY disorders of sex development
... detect copy-number variations (CNVs) in the genome of individuals with apparently normal karyotypes [5,6], and MLPA can identify various copy-number alterations in specific ...
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TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia
... Fifty Finnish patients, in whom detailed phenotypic data had been obtained by laparoscopy, were selected for the aCGH analysis, which was performed on a 180 K plat- form (Oxford Gene Technology, Yarnton, Oxford, UK). ...
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Integration of genomic copy number variations and chemotherapy-response biomarkers in pediatric sarcoma
... DNA copy number variations (CNVs) and gene fusions lead to altered gene expression and eventually contribute to the development of sarcoma ...gene variations, while 3 of the 55 genetic ...
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Chromosomal abnormalities and copy number variations in fetal ventricular septal defects
... abnormal copy number variations (CNVs), of which 13 were pathogenetic CNVs, 5 were variations of uncertain clinical significance (VOUS) and 2 were benign ...
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Associations of ORMDL1 gene copy number variations with growth traits in four Chinese sheep breeds
... Abstract. Copy number variations (CNVs) are gains and losses of genomic sequence of more than 50 bp be- tween two individuals of a ...gene copy numbers in four Chinese sheep breeds ...
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Evaluation of SHOX copy number variations in patients with Müllerian aplasia
... Background: Müllerian aplasia (MA) characterized by congenital loss of functional uterus and vagina is one of the most difficult disorders of female reproductive health. Despite of growing interest in this research ...
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Genetic Copy Number Variations in Colon Mucosa Indicating Risk for Colorectal Cancer
... a number of potential copy number variations (CNV) in DNA from patients with Dukes A-D tumors and correspondingly expected different ...
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Copy number variations in Friesian horses and genetic risk factors for insect bite hypersensitivity
... identified copy number variations in horses using different techniques ...the number of horses with phenotypic information or with specific CNVs were lim- ...The number of horses ...
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Assessment of copy number variations in the brain genome of schizophrenia patients
... the copy number variations (CNVs) identified in schizophrenia patients as well as with those in Asian lymphocyte DNA and attempted to obtain hints at the pathological contribution of cytogenomic ...
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Identification of genomic copy number variations associated with specific clinical features of head and neck cancer
... to variations in whole chromosomal copy number are a well-established cause of ...represent copy number variations (CNVs) which can include large chromosomal regions or gene-size ...
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Copy number variations and cancer
... on copy number variations (CNVs), an unexpectedly frequent, dynamic and complex form of genetic diversity, and have quickly overturned the idea of a single diploid human ‘reference ...which ...
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Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease
... Copy number variations (CNVs), already proven to be genetic risk factors in disease pathogenesis [14, 15], might thus account for part of the missing heritability in ...
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Non-invasive prenatal testing reveals copy number variations related to pregnancy complications
... Whole blood samples of 5 to 10 mL from pregnant women were collected in EDTA within 8 h or cell-free DNA was collected in BCT tubes (Streck Inc.; Omaha, NE) within 72 h at 4 °C. Afterwards, cfDNA extraction, library ...
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Copy number variations in 119 Chinese children with idiopathic short stature identified by the custom genome-wide microarray
... Chromosomal microarray (CMA), which has been rec- ommended as the first-tier clinical diagnostic test for in- dividuals with developmental disabilities or congenital anomalies [3], has a much higher resolution than con- ...
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Rare copy number variations containing genes involved in RASopathies: deletion of SHOC2 and duplication of PTPN11
... rare copy number variations harboring genes involved in RAS- MAPK signaling pathway of ...that copy number variations containing disease-causing genes of RAS/MAPK pathway play a ...
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Rapid and reliable detection of α-globin copy number variations by quantitative real-time PCR
... TaqMan® Copy Numbers Assay, Hs03947236_cn, (Life Technologies, USA) was ...TaqMan® copy number assay was designed to amplify a 104 bp fragment of the non- homologous region II of the α-globin gene ...
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Copy number variations in urine cell free DNA as biomarkers in advanced prostate cancer
... tumor-associated copy number variations in urine before and after initiating androgen deprivation therapy in HSPC stage and docetaxel chemotherapy in CRPC ...ratio-based copy number ...
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Copy number variations of the ATP binding cassette transporter ABCC6 gene and its pseudogenes
... for copy number variations of ABCC6 and its pseudogenes by pyrosequencing and quantitative ...PCR. Copy number variation of ABCC6 was very rare (2/142; ...single copy of ABCC6P2 ...
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