Results 11 to 20 of about 12,192,107 (344)
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
Association of ABCC8 and KCNJ11 gene variants with type 1 diabetes in south Indians
Egyptian Journal of Medical Human Genetics, 2021 Background Type 1 diabetes mellitus (TIDM) is a polygenic disorder with the involvement of several genetic and environmental risk factors. Mutation in genes namely ABCC8 and KCNJ11 disrupt the potentiality of KATP channel and regulates the secretion of ...
Shilpa Reddy +7 more
doaj +1 more source
Clinical and genetic characteristics of adult cerebral adrenoleukodystrophy
Shanghai Jiaotong Daxue xuebao. Yixue ban, 2023 Objective·To summarize and analyze the clinical and genetic characteristics of adult cerebral adrenoleukodystrophy(ACALD ).Methods·The data of eight patients with ACALD who attended the Shanghai Sixth People′s Hospital, Shanghai Jiao Tong University ...
LIU Taotao +7 more
doaj +1 more source
The third generation sequencing: the advanced approach to genetic diseases
Translational Pediatrics, 2020 Genomic sequencing technologies have revolutionized mutation detection of the genetic diseases in the past few years. In recent years, the third generation sequencing (TGS) has been gaining insight into more genetic diseases owing to the single molecular
T. Xiao, Wenhao Zhou
semanticscholar +1 more source
Advances in CRISPR/Cas-based Gene Therapy in Human Genetic Diseases
Theranostics, 2020 CRISPR/Cas genome editing is a simple, cost effective, and highly specific technique for introducing genetic variations. In mammalian cells, CRISPR/Cas can facilitate non-homologous end joining, homology- directed repair, and single-base exchanges.
Shaomei Wu +4 more
semanticscholar +1 more source
Management of genetic diseases: Present and future
Revista de la Facultad de Medicina Humana, 2021 Today, the number of genetic diseases is around 10000 conditions, affecting to 6%-8% of all populations. This review shows us how the discovery of genetic variants in our genome, this facilitated to know with precision about the mechanisms ...
Hugo Hernán Abarca Barriga +2 more
doaj +1 more source
Case Report: Identification of Polygenic Mutations by Exome Sequencing
Frontiers in Pediatrics, 2021 The discovery of rare genetic variation through different gene sequencing methods is a very challenging subject in the field of human genetics. A case of a 1-year-old boy with metabolic acidosis and hypokalemia, a small penis, growth retardation, and G ...
Yanfeng Liu +2 more
doaj +1 more source
Italian Journal of Pediatrics, 2017 A recent article from Pavone et al. published in the Italian Journal of Pediatrics entitled «Ataxia in children: early recognition and clinical evaluation» made an exhaustive overview of the large spectrum of pediatric ataxias.
H. Rahmoune +4 more
doaj +1 more source
New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases.
Annual review of genomics and human genetics (Print), 2020 Accurate diagnosis is the cornerstone of medicine; it is essential for informed care and promoting patient and family well-being. However, families with a rare genetic disease (RGD) often spend more than five years on a diagnostic odyssey of specialist ...
T. Hartley +5 more
semanticscholar +1 more source
Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencing
npj Genomic Medicine, 2020 Understanding causes of infant mortality shapes public health policy and prioritizes diseases for investments in surveillance, intervention and medical research.
S. Kingsmore +8 more
semanticscholar +1 more source