Results 51 to 60 of about 5,928,974 (349)
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background and Aims Wilms tumour (WT) has excellent event‐free and overall survival (OS). However, small differences exist between countries participating in the same international study. This led us to examine variation in adherence to protocol recommendations as a potential contributing factor.
Suzanne Tugnait +23 more
wiley +1 more source
A taxonomic schema of potential pitfalls in clinical variant analysis based on real-world evidence.
PLoS ONE, 2023 The classification and interpretation of genetic variants associated with genetic diseases have been shown to vary between clinical genetic laboratories. This can lead to errors introduced in the interpretation and public presentation of genetic findings
Adam Coovadia +3 more
doaj +1 more source
Genetic database software as medical devices [PDF]
Human Mutation, 2018 This article provides a primer on medical device regulations in the United States, Europe, and Canada. Software tools are being developed and shared globally to enhance the accessibility and usefulness of genomic databases. Interactive software tools, such as email or mobile alert systems providing variant classification updates, are opportunities to ...
Adrian Thorogood +4 more
openaire +2 more sources
Pediatric Blood &Cancer, EarlyView.ABSTRACT Arteriovenous malformations (AVMs) are rare, high‐flow, vascular anomalies that can occur either sporadically or as part of a genetic syndrome. AVMs can progress with serious morbidity and even mortality if left unchecked. Sirolimus is an mTOR inhibitor that is effective in low‐flow vascular malformations; however, its role in AVMs is unclear.
Will Swansson +3 more
wiley +1 more source
Spatio-temporal Functional Regression on Paleo-ecological Data [PDF]
, 2008 The influence of climate on biodiversity is an important ecological question. Various theories try to link climate change to allelic richness and therefore to predict the impact of global warming on genetic diversity.
Bar-Hen, Avner +3 more
core +3 more sources
Comparative genomic analysis of Acinetobacter spp. plasmids originating from clinical settings and environmental habitats [PDF]
, 2018 Bacteria belonging to the genus Acinetobacter have become of clinical importance over the last decade due to the development of a multi-resistant phenotype and their ability to survive under multiple environmental conditions.
Pistorio, Mariano +5 more
core +2 more sources
Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases
Human Mutation, 2014 Congenital erythrocytosis (CE), or congenital polycythemia, represents a rare and heterogeneous clinical entity. It is caused by deregulated red blood cell production where erythrocyte overproduction results in elevated hemoglobin and hematocrit levels ...
C. Bento +51 more
semanticscholar +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT Purpose Although not always achieved, complete chemotherapy‐induced nausea and vomiting (CINV) control is the conventional goal of CINV prophylaxis. In this two‐center, mixed‐methods study, we sought to understand the preferences of adolescent patients and family caregivers for CINV control endpoints.
Haley Newman +8 more
wiley +1 more source
HGVbaseG2P: a central genetic association database [PDF]
Nucleic Acids Research, 2009 The Human Genome Variation database of Genotype to Phenotype information (HGVbaseG2P) is a new central database for summary-level findings produced by human genetic association studies, both large and small. Such a database is needed so that researchers have an easy way to access all the available association study data relevant to their genes, genome ...
Thorisson, Gudmundur A. +7 more
openaire +3 more sources
PharmaKoVariome database for supporting genetic testing
Database, 2022 AbstractPharmacogenomics (PGx) provides information about routine precision medicine, based on the patient’s genotype. However, many of the available information about human allele frequencies, and about clinical drug–gene interactions, is based on American and European populations.
Jungeun Kim +3 more
openaire +3 more sources