Results 51 to 60 of about 2,761,247 (301)
Background: Although immunotherapy has emerged as the “next generation” of cancer treatments, it has not yet been shown to be successful in the treatment of patients with prostate cancer, for whom therapeutic options remain limited to radiotherapy and ...
Simon P. Hood +6 more
doaj +1 more source
ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation. [PDF]
ObjectiveWe aimed to generate a review and description of the phenotypic and genotypic spectra of ARHGEF9 mutations.MethodsPatients with mutations or chromosomal disruptions affecting ARHGEF9 were identified through our clinics and review of the ...
Alber, Michael +21 more
core
Are there sleep-specific phenotypes in patients with chronic fatigue syndrome? A cross-sectional polysomnography analysis [PDF]
Objectives: Despite sleep disturbances being a central complaint in patients with chronic fatigue syndrome (CFS), evidence of objective sleep abnormalities from over 30 studies is inconsistent.
Deary, Vincent +3 more
core +1 more source
ABSTRACT Objective To evaluate the diagnostic yield and utility of universal paired tumor–normal multigene panel sequencing in newly diagnosed pediatric solid and central nervous system (CNS) tumor patients and to compare the detection of germline pathogenic/likely pathogenic variants (PV/LPVs) against established clinical referral criteria for cancer ...
Natalie Waligorski +9 more
wiley +1 more source
Angiography by means of micro–computed tomography (m-CT) is extensively used for the diagnosis of vasculature disorders. To establish a connection between m-CT images and genuine histopathology findings, we developed two novel titanium dioxide ...
Taku Goto +4 more
doaj +1 more source
In addition to extracellular β-amyloid plaques and intracellular neurofibrillary tangles, neuroinflammation has been identified as a key pathological characteristic of Alzheimer’s disease (AD).
Zhiwei Shen, Xinjie Bao, Renzhi Wang
doaj +1 more source
CYP450 Genotype—Phenotype Concordance Using the Geneva Micrococktail in a Clinical Setting
Pharmacokinetic variability is a major source of differences in drug response and can be due to genetic variants and/or drug-drug interactions. Cytochromes P450 are among the most studied enzymes from a pharmacokinetic point of view.
Kuntheavy Ing Lorenzini +6 more
doaj +1 more source
A phenotype of resiliency? cross-sectional psychobiological differences between caregivers who are vulnerable vs. resilient to depression, and controls [PDF]
Introduction: Being a caregiver of chronically ill children is a source of chronic-psychological stress affecting general physical and mental health.
Bersani, F. S. +2 more
core
Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome [PDF]
Background The introduction of molecular karyotyping technologies facilitated the identification of specific genetic disorders associated with imbalances of certain genomic regions.
Bena, F +23 more
core +2 more sources
Multisystem proteinopathy due to a homozygous p.Arg159His VCP mutation : a tale of the unexpected [PDF]
ObjectiveTo assess the clinical, radiologic, myopathologic, and proteomic findings in a patient manifesting a multisystem proteinopathy due to a homozygous valosin-containing protein gene (VCP) mutation previously reported to be pathogenic in the ...
Azmi, A +12 more
core +1 more source

