Results 11 to 20 of about 5,372,923 (315)
Scientific Reports, 2023 To elevate the accuracy of diagnostic results, CNV-seq is usually performed simultaneously with karyotyping or QF-PCR. Although several studies have investigated the performance of the combined use of CNV-seq with karyotyping or QF-PCR, there have been ...
Hao Zhang +6 more
doaj +1 more source
Molecular Diagnosis to Individualized Therapies in Rare Genetic Diseases: New Approach Methodologies, RNA Therapeutics, and the Case for a Human-First Filter. [PDF]
Genes (Basel)Rare genetic diseases are heterogeneous across mechanisms, trajectories, and treatment responses. To date, approved therapies remain available for only a small proportion of rare genetic diseases.
Anwar S, Yokota T.
europepmc +2 more sources
Molecular Genetics & Genomic Medicine, 2021 Background There is a paucity of information available regarding the carrier frequency for autosomal recessive pathogenic variants among Syrian Jews. This report provides data to support carrier screening for a group of autosomal recessive conditions ...
David A. Zeevi +11 more
doaj +1 more source
Health and Quality of Life Outcomes, 2020 Purpose The present study evaluated how heart failure (HF) negatively impacts health-related quality of life (HRQoL) in hypertrophic cardiomyopathy (HCM) patients and explored the major clinical determinants associated with HRQoL impairment in this ...
Razvan Capota +6 more
doaj +1 more source
Topologically Associating Domains and Regulatory Landscapes in Development, Evolution and Disease
Frontiers in Cell and Developmental Biology, 2021 Animal genomes are folded in topologically associating domains (TADs) that have been linked to the regulation of the genes they contain by constraining regulatory interactions between cis-regulatory elements and promoters. Therefore, TADs are proposed as
Juan J. Tena, José M. Santos-Pereira
doaj +1 more source
Deciphering the Genetic Code of Autoimmune Kidney Diseases
, 2023 Autoimmune kidney diseases occur due to the loss of tolerance to self-antigens, resulting in inflammation and pathological damage to the kidneys. This review focuses on the known genetic associations of the major autoimmune kidney diseases that result in
Kim Maree O’Sullivan +2 more
core +1 more source
Molecular Genetics & Genomic Medicine, 2023 Background Copy number variation sequencing (CNV‐seq) could detect most chromosomal abnormalities except polyploidy, and quantitative fluorescence polymerase chain reaction (QF‐PCR) is a supplementary method to CNV‐seq in triploid detection.
Quan Chen +7 more
doaj +1 more source
Preimplantation Genetic Testing for Genetic Diseases: Limits and Review of Current Literature
, 2023 Preimplantation genetic testing (PGT) has emerged as a revolutionary technique in the field of reproductive medicine, allowing for the selection and transfer of healthy embryos, thus reducing the risk of transmitting genetic diseases.
Ugo Sorrentino +4 more
core +1 more source
, 2023 Demyelinating diseases alter myelin or the coating surrounding most nerve fibers in the central and peripheral nervous systems. The grouping of human central nervous system demyelinating disorders today includes multiple sclerosis (MS) and neuromyelitis ...
Blanca M. G. Torres-Mendoza +6 more
core +1 more source
Genetics of Alzheimer's Disease [PDF]
Neurotherapeutics, 2014 The analyses of genetic factors contributing to Alzheimer's disease (AD) and other dementias have evolved at the same pace as genetic and genomic technologies are developed and improved. The identification of the first genes involved in AD arose from family-based studies, but risk factors have mainly been identified by studies comparing groups of ...
Guerreiro, R, Hardy, J
openaire +4 more sources