منابع مشابه
CNVs in neurodevelopmental disorders
Copy number variations (CNVs) consist of duplications or deletions of chromosomal regions ranging from a few hundred to more than a million bases in size, and are likely to play a role in phenotypic diversity and evolution. Recent advances in the identification and mapping of CNVs among normal individuals and in model systems, using bioinformatics and hybridization-based methods, are beginning ...
متن کاملCNVs in Epilepsy
Copy number variants (CNVs) are deletions or duplications of DNA. CNVs have been increasingly recognized as an important source of both normal genetic variation and pathogenic mutation. Technologies for genome-wide discovery of CNVs facilitate studies of large cohorts of patients and controls to identify CNVs that cause increased risk for disease. Over the past 5 years, studies of patients with...
متن کاملGenetic architecture of reciprocal CNVs.
Copy number variants (CNVs) represent a frequent type of lesion in human genetic disorders that typically affects numerous genes simultaneously. This has raised the challenge of understanding which genes within a CNV drive clinical phenotypes. Although CNVs can arise by multiple mechanisms, a subset is driven by local genomic architecture permissive to recombination events that can lead to both...
متن کاملCopy-number variation analysis in familial nonsyndromic congenital anomalies of the kidney and urinary tract: Evidence for the causative role of a transposable element-associated genomic rearrangement
Most congenital anomalies of the kidney and urinary tract (CAKUT) are sporadic, but familial occurrence has been described, suggesting a genetic contribution. Copy‑number variations (CNVs) were detected in patients with CAKUT to identify possible novel genomic regions associated with CAKUT. CNVs were investigated in 7 children with CAKUT from three unrelated families using array comparative gen...
متن کاملCongenital Anomalies of the Kidney and Urinary Tract (CAKUT).
Congenital anomalies of the kidneys and urinary tract (CAKUT) are found in 3-6 out of 1.000 of the newborns, or according to some statistics they are represented in 0.5% of all pregnancies. Congenital abnormalities of the kidneys and urinary tract present a family of diseases of various anatomic spectrum, including renal anomalies, and anomalies of the bladder and urethra. The study was retrosp...
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ژورنال
عنوان ژورنال: Nature Reviews Nephrology
سال: 2019
ISSN: 1759-5061,1759-507X
DOI: 10.1038/s41581-019-0115-x