Results 51 to 60 of about 585,411 (243)
BMC Medical EducationBackground Understanding genetics is crucial for medical students, particularly in Saudi Arabia, where genetic disorders are prevalent owing to high rates of consanguineous marriages.
Abeer F. Zakariyah +5 more
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Myotonic dystrophy: genetics and clinical polymorphism
Анналы клинической и экспериментальной неврологии, 2019 Myotonic dystrophy is the most common form of hereditary progressive muscular dystrophy in adults. The disorder is characterized by progressive course, autosomal dominant inheritance and multisystem involvement (skeletal muscles, myocardium, endocrine ...
Ekaterina O. Ivanova +4 more
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DeepGestalt - Identifying Rare Genetic Syndromes Using Deep Learning [PDF]
arXiv, 2018 Facial analysis technologies have recently measured up to the capabilities of expert clinicians in syndrome identification. To date, these technologies could only identify phenotypes of a few diseases, limiting their role in clinical settings where hundreds of diagnoses must be considered.
arxiv
A comparative study of circulating tumor cell isolation and enumeration technologies in lung cancer
Molecular Oncology, EarlyView.Lung cancer cells were spiked into donor blood to evaluate the recovery rates of the following circulating tumor cell (CTC) enrichment technologies: CellMag™, EasySep™, RosetteSep™, Parsortix® PR1, and Parsortix® Prototype systems. Each method's advantages and disadvantages are described.
Volga M Saini +11 more
wiley +1 more source
Gene expression of non-homologous end-joining pathways in the prognosis of ovarian cancer
iScience, 2023 Summary: Ovarian cancer is the deadliest gynecologic malignancy in women, with a 46% five-year overall survival rate. The objective of the study was to investigate the effects of non-homologous end-joining (NHEJ) genes on clinical outcomes of ovarian ...
Ethan S. Lavi +2 more
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Clinical Genetics in Interstitial Lung Disease
Frontiers in Medicine, 2018 Interstitial lung disease (ILD) comprises a heterogeneous group of diffuse parenchymal lung processes with overlapping clinical, radiographic, and histopathologic features. Among the most common and deadly ILDs are idiopathic pulmonary fibrosis (IPF) and
Chad A. Newton +4 more
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Cell‐free and extracellular vesicle microRNAs with clinical utility for solid tumors
Molecular Oncology, EarlyView.Cell‐free microRNAs (cfmiRs) are small‐RNA circulating molecules detectable in almost all body biofluids. Innovative technologies have improved the application of cfmiRs to oncology, with a focus on clinical needs for different solid tumors, but with emphasis on diagnosis, prognosis, cancer recurrence, as well as treatment monitoring.
Yoshinori Hayashi +6 more
wiley +1 more source
Genome Medicine, 2017 Clinical genetics laboratories have recently adopted guidelines for the interpretation of sequence variants set by the American College of Medical Genetics (ACMG) and Association for Molecular Pathology (AMP).
Lora J. H. Bean, Madhuri R. Hegde
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Molecular Oncology, EarlyView.This study demonstrates that KRAS and GNAS mutations are more prevalent in patients with resected intraductal papillary mucinous neoplasms (IPMN) compared to those under clinical surveillance. GNAS mutations significantly differ between the two patient cohorts, indicating that their absence may serve as a potential biomarker to support conservative ...
Christine Nitschke +12 more
wiley +1 more source
The Application of Clinical Genetics, 2012 Gregory Costain1,2, Anne S Bassett1–41Clinical Genetics Research Program, Centre for Addiction and Mental Health, 2Institute of Medical Science, University of Toronto, 3Division of Cardiology, Department of Medicine and Department of Psychiatry,
Costain G, Bassett AS
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