Results 21 to 30 of about 17,080,653 (424)
Molecular Cytogenetics, 2017 Background Deletions in Xq21 cause various congenital defects in males including choroideremia, deafness and mental retardation, depending on their size and gene content.
Siying Liang +4 more
doaj +1 more source
Technology in Cancer Research & Treatment, 2021 Objective: We aimed to investigate the diagnostic value of the vaginal microecology, serum miR-18a, and programmed death ligand-1 (PD-L1) for human papillomavirus (HPV)-positive cervical cancer.
Yumei Zhang +5 more
doaj +1 more source
Confidential genetic testing and electronic health records: A survey of current practices among Huntington disease testing centers [PDF]
, 2020 BACKGROUND: Clinical care teams providing presymptomatic genetic testing often employ advanced confidentiality practices for documentation and result storage.
Barton, Stacey K +5 more
core +2 more sources
Foods, 2023 Sensitive, intelligent point-of-care test (iPOCT) methods for small molecules like aflatoxin B1 (AFB1) are urgently needed for food and the environment. The challenge remains of surface control in iPOCT.
Wenqin Wu +10 more
doaj +1 more source
Biomedicines, 2021 The accumulation of extracellular β-amyloid (Aβ) plaques within the brain is unique to Alzheimer’s disease (AD) and thought to induce synaptic deficits and neuronal loss. Optimal therapies should tackle the core AD pathophysiology and prevent the decline
Yi-An Chen +7 more
doaj +1 more source
Genetic testing for asthma [PDF]
European Respiratory Journal, 2008 Asthma is a genetically complex disease caused by multiple genetic and environmental factors. An increasing number of asthma susceptibility genes are currently being identified. The present study addresses the question as to whether this genetic information can be used to predict asthma, particularly in pre-school children.The predictive value of a ...
Gerard H. Koppelman +2 more
openaire +3 more sources
A very early diagnosis of Alstrӧm syndrome by next generation sequencing
BMC Medical Genetics, 2020 Background Alström syndrome is a rare recessively inherited disorder caused by variants in the ALMS1 gene. It is characterized by multiple organ dysfunction, including cone-rod retinal dystrophy, dilated cardiomyopathy, hearing loss, obesity, insulin ...
Leonardo Gatticchi +12 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
Genetic testing in Marfan syndrome [PDF]
, 2016 Genetic testing is aiding rapid diagnosis of Marfan syndrome as a basis for management of eye, heart and skeletal disease. The affected patient's mutation can be used as a basis for prenatal or postnatal diagnosis of offspring.
Aragon-Martin, JA, Child, AH, Sage, K
core +1 more source
Preimplantation Genetic Testing for Monogenic Disorders
Genes, 2020 Preimplantation genetic testing (PGT) has evolved into a well-established alternative to invasive prenatal diagnosis, even though genetic testing of single or few cells is quite challenging.
M. De Rycke, V. Berckmoes
semanticscholar +1 more source