Results 51 to 60 of about 1,654,437 (300)
Genetic diagnosis as a tool for personalized treatment of Duchenne muscular dystrophy [PDF]
, 2016 Accurate definition of genetic mutations causing Duchenne muscular dystrophy (DMD) has always been relevant in order to provide genetic counseling to patients and families, and helps to establish the prognosis in the case where the distinction between ...
Bello, Luca, Pegoraro, Elena
core
BMC Medical Genomics, 2023 Background 1q21.1q21.2 microdeletions/microduplications are rare and incompletely penetrant genetic mutations, and only a few reports regarding their prenatal diagnosis are currently available.
Nan Guo +5 more
doaj +1 more source
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
Scientific ReportsEndometrial cancer (EC) is one of the few malignancies with increasing incidence and mortality rates. Targeted therapy and immunotherapy have become pivotal treatment strategies for EC patients.
Shan Lu +6 more
doaj +1 more source
Molecular Genetics & Genomic Medicine, 2019 Background Deletional hereditary persistence of fetal hemoglobin (HPFH)/δβ‐thalassemia and δ‐thalassemia are rare inherited disorders which may complicate the diagnosis of β‐thalassemia.
Jie Zhang +13 more
doaj +1 more source
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
Pediatric Blood &Cancer, EarlyView.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
The effect of missing values using genetic programming on evolvable diagnosis [PDF]
, 2002 Medical databases usually contain missing values due the policy of reducing stress and harm to the patient. In practice missing values has been a problem mainly due to the necessity to evaluate mathematical equations obtained by genetic programming ...
Kalganova, T, Werner, JC
core
Psychometric precision in phenotype definition is a useful step in molecular genetic investigation of psychiatric disorders [PDF]
, 2015 Affective disorders are highly heritable, but few genetic risk variants have been consistently replicated in molecular genetic association studies. The common method of defining psychiatric phenotypes in molecular genetic research is either a summation ...
A Brown +55 more
core +6 more sources
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