Results 11 to 20 of about 2,431,050 (332)
Modeling and Testing for Joint Association Using a Genetic Random Field Model [PDF]
, 2014 Substantial progress has been made in identifying single genetic variants predisposing to common complex diseases. Nonetheless, the genetic etiology of human diseases remains largely unknown.
Adler +24 more
core +2 more sources
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
Fabry disease, do we think enough about this multisystemic disorder?: A presentation of three cases in a Serbian family [PDF]
Vojnosanitetski Pregled, 2012 Background. Fabry Disease is a rare, X-chromosomal inherited lysosomal storage disease with a consequent intracellular accumulation of neutral glycosphingolipids in various tissues.
Sakač Dejan +3 more
doaj +1 more source
Scientific Reports, 2017 Abnormal nutrient metabolism is a hallmark of aging, and the underlying genetic and nutritional framework is rapidly being uncovered, particularly using C. elegans as a model. However, the direct metabolic consequences of perturbations in life history of
Arwen W. Gao +13 more
doaj +1 more source
Modeling viral infectious diseases and development of antiviral therapies using human induced pluripotent stem cell-derived systems [PDF]
, 2015 The recent biotechnology breakthrough of cell reprogramming and generation of induced pluripotent stem cells (iPSCs), which has revolutionized the approaches to study the mechanisms of human diseases and to test new drugs, can be exploited to generate ...
Barzon, Luisa +6 more
core +2 more sources
Infectious diseases and autoimmunity [PDF]
, 2011 Introduction: Autoimmunity occurs when the immune system recognizes and attacks host tissue. In addition to genetic factors, environmental triggers (in particular viruses, bacteria and other infectious pathogens) are thought to play a major role in the ...
Deidda, Silvia +3 more
core +1 more source
Assessing the knowledge and awareness of the Taif community about genetic diseases
Journal of Biochemical and Clinical Genetics, 2022 Background: Diseases have a genetic basis, wherein changes in the human deoxyribonucleic acid and variances in its activities, which the environment may influence, contribute to disease processes.
Ghaliah Alnefaie +6 more
doaj +1 more source
Journal of Biochemical and Clinical Genetics, 2021 Background: There is a high rate of consanguinity and related genetic diseases in the general population of Saudi Arabia. Studies have been conducted to address the level of awareness about consanguineous marriages (CM); however, targeted young female ...
Hadil Alahdal +7 more
doaj +1 more source
A Strategy analysis for genetic association studies with known inbreeding [PDF]
, 2011 Background: Association studies consist in identifying the genetic variants which are related to a specific disease through the use of statistical multiple hypothesis testing or segregation analysis in pedigrees.
Bertolino, Francesco +9 more
core +4 more sources
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