Results 1 to 10 of about 17,080,554 (325)
Genetic testing for achromatopsia
The EuroBiotech Journal, 2017 We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for achromatopsia. The disease has autosomal recessive inheritance, a prevalence of 1/30000-1/50000, and is caused by mutations in ...
Abeshi Andi +5 more
doaj +5 more sources
Genetic testing for choroideremia
The EuroBiotech Journal, 2017 We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for choroideremia (CHM). CHM is an inherited X-linked recessive disorder associated with variations in the CHM gene.
Abeshi Andi +7 more
doaj +5 more sources
Genetic testing in the classroom [PDF]
BMJ, 1995 EDITOR,--Recent advances in molecular genetics permit simple genetic testing; this has raised the possibility that suchtesting may be used to show genetic techniques as part of medical education. Indeed, in a biochemistry class in one medi l school first year medical students have undergone collective testing for the most common genetic defect causing ...
Audrey Tyler, David Ball, Angus Clarke
openalex +4 more sources
Testing Quantum Dynamics in Genetic Information Processing [PDF]
Journal of Genetics 80 (2001) 39-43, 2001 Does quantum dynamics play a role in DNA replication? What type of tests would reveal that? Some statistical checks that distinguish classical and quantum dynamics in DNA replication are proposed.
Patel, Apoorva
arxiv +3 more sources
Germline Genetic Testing After Cancer Diagnosis.
Journal of the American Medical Association (JAMA), 2023 Importance Germline genetic testing is recommended by practice guidelines for patients diagnosed with cancer to enable genetically targeted treatment and identify relatives who may benefit from personalized cancer screening and prevention. Objective To
Allison W. Kurian +16 more
semanticscholar +1 more source
Journal of Genetic Counseling, 2022 Epilepsy, defined by the occurrence of two or more unprovoked seizures or one unprovoked seizure with a propensity for others, affects 0.64% of the population and can lead to significant morbidity and mortality.
Lacey Smith +6 more
semanticscholar +1 more source
Current practice in diagnostic genetic testing of the epilepsies
Epileptic disorders, 2022 Epilepsy genetics is a rapidly developing field, in which novel disease-associated genes, novel mechanisms associated with epilepsy, and precision medicine approaches are continuously being identified.
Ilona Krey +15 more
semanticscholar +1 more source
Association Between Diet-Related Inflammation and COPD: Findings From NHANES III
Frontiers in Nutrition, 2021 Background and Aims: Little is known about diet-related inflammation in chronic obstructive pulmonary disease (COPD). In this study, we aimed to explore the association between COPD and dietary inflammatory index (DII) scores in adults over 40 years old ...
Haiyue Liu +17 more
doaj +1 more source
Genetic Testing for All: Overcoming Disparities in Ovarian Cancer Genetic Testing.
American Society of Clinical Oncology educational book. American Society of Clinical Oncology. Annual Meeting, 2022 Nearly 3% of the population carries genetic variants that lead to conditions that include hereditary breast and ovarian cancer and Lynch syndrome. These pathogenic variants account for approximately 20% of ovarian cancer cases, and those with germline ...
M. Frey +4 more
semanticscholar +1 more source