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An update on genetic variants of the NKX2-5
(Wiley-liss, div John Wiley & Sons Inc., 2020-05)
NKX2-5 is a homeodomain transcription factor that plays a crucial role in heart development. It is the first gene where a single genetic variant (GV) was found to be associated with congenital heart diseases in humans. In ...
Identification of Variants Responsible for Monogenic Forms of Diabetes in Brazil
(Frontiers Media, 2022)
A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population
(Nature Publishing Group, 2019)
Determining the clinical significance of germline and somatic KMT2D missense variants (MVs) in Kabuki syndrome (KS) and cancers can be challenging. We analysed 1920 distinct KMT2D MVs that included 1535 germline MVs in ...
Genetic variants with potential loss of function in Gyr, Girolando, and Guzerat cattle breeds by resequencing.
(Amer Soc Animal Science, 2017-08-01)
Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss.
(Springer, 2023)
Hearing loss (HL) is a common heterogeneous trait that involves variants in more than 200 genes. In this study, we utilized exome (ES) and genome sequencing (GS) to effectively identify the genetic cause of presumably ...
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 ...
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 ...