Results 11 to 20 of about 2,355,082 (334)
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
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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
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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
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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
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
1st INCF Workshop on Genetic Animal Models for Brain Diseases [PDF]
, 2011 The INCF Secretariat organized a workshop to focus on the “role of neuroinformatics in the processes of building, evaluating, and using genetic animal models for brain diseases” in Stockholm, December 13–14, 2009.
Holm Graessner, Olaf Riess
core +2 more sources
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
Familial dysbetalipoproteinemia: highly atherogenic and underdiagnosed disorder
Кардиоваскулярная терапия и профилактика, 2021 Familial dysbetalipoproteinemia (FD) is a genetic, highly atherogenic disorder. The penetrance of FD depends on the patient’s lifestyle and concomitant diseases. Despite the fact that FD was described almost half a century ago, it is still insufficiently
A. V. Blokhina +3 more
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Current Opinion in Genetics & Development, 2011 Prion diseases or transmissible spongiform encephalopathies (TSEs) are neurodegenerative disorders of humans and animals for which there are no effective treatments or cure. They include Creutzfeldt-Jakob disease (CJD) in humans and sheep scrapie, bovine spongiform encephalopathy (BSE) and chronic wasting disease (CWD) in cervids.
Sarah E. Lloyd +2 more
openaire +5 more sources
Genetics of Parkinson disease [PDF]
NeuroRX, 2004 Parkinson disease (PD) is the second most common neurodegenerative disorder. Recent studies have consistently demonstrated that in some families, disease is attributable to a mutation in a single gene. To date, genetic analyses have detected linkage to six chromosomal regions and have identified three causative genes: PARK1 (alpha-synuclein), PARK2 ...
Tatiana Foroud, Nathan Pankratz
openaire +6 more sources