Evidence‐based consensus guidelines for ALS genetic testing and counseling
Annals of Clinical and Translational Neurology, 2023 Objective Advances in amyotrophic lateral sclerosis (ALS) gene discovery, ongoing gene therapy trials, and patient demand have driven increased use of ALS genetic testing. Despite this progress, the offer of genetic testing to persons with ALS is not yet
Jennifer Roggenbuck +5 more
doaj +1 more source
The MyoD1 Promoted Muscle Differentiation and Generation by Activating CCND2 in Guanling Cattle
Animals, 2022 The purpose of this study was to analyze the transcriptome of MyoD1 gene knockout MDBK cells (bovine kidney cells) using high-throughput sequencing.
Di Zhou +10 more
doaj +1 more source
Frontiers in Pharmacology, 2023 Background: Janus kinase (JAK) inhibitors have emerged as a progressively utilized therapeutic approach for the management of rheumatoid arthritis (RA). However, the complete determination of their cardiovascular safety remains inconclusive.
Qige Wei +21 more
doaj +1 more source
Is there a right time to know? The right not to know and genetic testing in children [PDF]
, 2014 The increasing implementation of next-generation sequencing technologies in the clinical context and the expanding commercial offer of genetic tests directly-toconsumers has increased the availability of previously inaccessible genetic information.
Borry, Pascal +2 more
core +2 more sources
Genomics knowledge and attitudes among European public health professionals. Results of a cross-sectional survey [PDF]
, 2020 Background The international public health (PH) community is debating the opportunity to incorporate genomic technologies into PH practice. A survey was conducted to assess attitudes of the European Public Health Association (EUPHA) members towards their
Baccolini, V. +10 more
core +2 more sources
Clinical and molecular characterization of a cardiac ryanodine receptor founder mutation causing catecholaminergic polymorphic ventricular tachycardia [PDF]
, 2015 Background Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a difficult-to-diagnose cause of sudden cardiac death (SCD). We identified a family of 1400 individuals with multiple cases of CPVT, including 36 SCDs during youth.
Allegue, Catarina +12 more
core +2 more sources
Heliyon, 2023 Objectives: To evaluate a two-test strategy for HIV screening in the low-prevalence population and to assess the feasibility of utilizing the optimal signal-to-cutoff (S/CO) threshold on the chemiluminescence immunoassay(CMIA) and an additional rapid ...
Yu Huang +8 more
doaj +1 more source
Genetic Testing and Genetic Screening [PDF]
Kennedy Institute of Ethics Journal, 1993 In recent years there has been an enormous expansion in the knowledge that may be gleaned from the testing of an individual's genetic material to predict present or future disability or disease either for oneself or one's offspring. The Human Genome Project, which is currently mapping the entire human gene system, is identifying progressively more ...
openaire +2 more sources
Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features. [PDF]
, 2016 Purpose:To report atypical presentation of neuronal ceroid lipofuscinoses type 8 (CLN8) to the eye clinic and review clinical features of CLN8. Observations:Detailed eye exam by slit lamp exam, indirect ophthalmoscopy, fundus photography, optical ...
Collins, Christin D +6 more
core +2 more sources
The right not to know: the case of psychiatric disorders [PDF]
, 2011 This paper will consider the right not to know in the context of psychiatric disorders. It will outline the arguments for and against acquiring knowledge about the results of genetic testing for conditions such as breast cancer and Huntington's disease ...
Bortolotti, L., Widdows, H.
core +2 more sources