Buscar
Mostrando ítems 1-10 de 239
Genome-Wide Analysis of Copy Number Variation in Latin American Parkinson's Disease Patients
(Wiley, 2020)
Background: Parkinson's disease is the second most common neurodegenerative disorder and affects people from all ethnic backgrounds, yet little is known about the genetics of Parkinson's disease in non-European populations. ...
Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact
(2022)
Copy-number variants and structural variants (CNVs/SVs) drive many neurodevelopmental-related disorders. While many neurodevelopmental-related CNVs/SVs give rise to complex phenotypes, the overlap in phenotypic presentation ...
Challenges in Clinico-Genetic Correlations in Parkinson’s disease (PD): The Role of Copy Number Variants (CNV)
(SciVision Publishers, 2021-08)
Parkinson’s disease (PD) represents the second most common neurodegenerative disease and remains incurable. Mutations in multiple genes have been linked to monogenic PD (gPD); these monogenic forms, however, represent a ...
Copy number variants in patients with short stature
(Nature Publishing Group, 2014)
Height is a highly heritable and classic polygenic trait. Recent genome-wide association studies (GWAS) have revealed that at least 180 genetic variants influence adult height. However, these variants explain only about ...
Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies
(Sociedad Brasileira de Pediatria with Elsevier, 2015)
Objectives
Clinical use of microarray-based techniques for the analysis of many developmental disorders has emerged during the last decade. Thus, chromosomal microarray has been positioned as a first-tier test. This ...
Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies
(Sociedad Brasileira de Pediatria with Elsevier, 2015)
Objectives
Clinical use of microarray-based techniques for the analysis of many developmental disorders has emerged during the last decade. Thus, chromosomal microarray has been positioned as a first-tier test. This ...