Results 71 to 80 of about 11,828,008 (230)
Genetics, 2018 Genetic diseases are both inherited and acquired. Many genetic diseases fall under the paradigm of orphan diseases, a disease found in < 1 in 2000 persons.
Katherine A Strynatka +3 more
semanticscholar +1 more source
Knowledge and attitude toward genetic diseases and genetic tests among pre-marriage individuals: A cross-sectional study in northern Iran [PDF]
, 2019 Background: Genetic testing has been widely introduced for many hereditary disorders. While the attitudes towards these facilities have been evaluated in many countries, there are only a few reports on the knowledge of and the orientation among Iranians.
Ataei, Golamreza +4 more
core +3 more sources
New insight into genetic disease : the role of trinucleotide repeat expansions [PDF]
, 1995 The development of genetics in the last few decades is replete with surprise phenomena and new findings. One such phenomenon is the trinucleotide repeat expansion, a new type of mutation first discovered in 1991.
Cuschieri, Alfred
core
, 2011 Full text freely available at http://www.sciencemag.org/content/331/6020/1026.3.full or http://www.sciencemag.org/content/331/6020/1026.3.full.pdfInternational audienceThe sequencing of the human genome has been a major scientific adventure of the late ...
Rabeharisoa, Vololona
core +3 more sources
Physiological conditions influencing regenerative potential of stem cells [PDF]
, 2016 Stem cells are being used in the treatment of cardivovascular diseases. Here, we review the physiologic and pathologic conditions that impact the regenerative potential of stem cells in the treatment of cardiovascular diseases which include the influence
Avitabile, Daniele +3 more
core +1 more source
GENETICS OF AUTISTIC DISORDER (REVIEW OF FOREIGN LITERATURE)
Русский журнал детской неврологии, 2015 Autism can occur in combination with chromosomal and genetic syndromes, malformations of the brain, metabolic diseases, etc. In this regard, currently adopted the term «atypical» or «syndromic» autism – autism, which is a symptom of another disease ...
M. Yu. Bobylova, H. L. Petchatnikova
doaj +1 more source
Inherited Robertsonian translocation (13;14) in a child with Down Syndrome
Journal of Biochemical and Clinical Genetics, 2020 Background: Down Syndrome is a genetic disorder caused by abnormal cell division, resulting in extra genetic material from chromosome 21. Non-homologous Robertsonian translocation (RT) between chromosomes 13 and 14 is a common genetic abnormality seen in
Srilekha Avvari +3 more
doaj +1 more source
The Quantitative Genetics of Human Disease: 1 Foundations [PDF]
arXiv, 2023 In this the first of an anticipated four paper series, fundamental results of quantitative genetics are presented from a first principles approach. While none of these results are in any sense new, they are presented in extended detail to precisely distinguish between definition and assumption, with a further emphasis on distinguishing quantities from ...
arxiv
Alzheimer disease genetic risk factor APOE e4, and cognitive abilities in 111,739 UK Biobank participants [PDF]
, 2016 Background: the apolipoprotein (APOE) e4 locus is a genetic risk factor for dementia. Carriers of the e4 allele may be more vulnerable to conditions that are independent risk factors for cognitive decline, such as cardiometabolic diseases.
Anderson, Jana +14 more
core +1 more source
Molecular Genetics & Genomic Medicine, 2023 Background Dystrophinopathies are X‐linked recessive conditions caused by pathogenic variants in the dystrophin (DMD) gene. In a family that included two boys with Becker muscular dystrophy (BMD) due to a DMD deletion of exons 45–47, maternal carrier ...
Elizabeth A. Ulm +3 more
doaj +1 more source