Results 71 to 80 of about 3,819,422 (303)
Frontiers in GeneticsObjectiveTo investigate the clinical utility of Next Generation Sequencing (NGS) in molecular typing of endometrial carcinoma and its combined screening for Lynch Syndrome (LS).Methods90 patients diagnosed with endometrial carcinoma (EC) and receiving ...
Yongzhen Guo +10 more
doaj +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Families of children with cancer experience significant financial strain, even with universal healthcare. Indirect costs, such as productivity losses and non‐medical expenses, are rarely included in economic evaluations, and little is known about how effectively financial aid programmes alleviate this burden. Childhood brain tumours
Megumi Lim +8 more
wiley +1 more source
Alternative Splicing in Tumorigenesis and Cancer Therapy
BiomoleculesAlternative splicing (AS) is a pivotal post-transcriptional mechanism that expands the functional diversity of the proteome by enabling a single gene to generate multiple mRNA and protein isoforms.
Huiping Chen +2 more
doaj +1 more source
Signs and symptoms preceding the diagnosis of Alzheimer’s disease: a systematic scoping review of literature from 1937 to 2016 [PDF]
, 2017 Objective Late diagnosis of Alzheimer’s disease (AD) may be due to diagnostic uncertainties. We aimed to determine the sequence and timing of the appearance of established early signs and symptoms in people who are subsequently diagnosed with AD ...
Bature, Fidelia +3 more
core +2 more sources
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background The management of clinically apparent single lesions or oligofocal nephroblastomatosis, a facultative precursor of nephroblastoma, remains debated. Methods We retrospectively analyzed 37 patients with clinically apparent single or oligofocal nephroblastomatosis (two to three lesions per kidney) among 2347 patients registered between
Nils Welter +17 more
wiley +1 more source
Early diagnosis of parkinson [PDF]
Arquivos de Neuro-Psiquiatria, 1952 What a privilege it is to contribute to a Festschrift for Doctor Barraquer Ferre! It is for others to evaluate his work as a neurologist. Here I wish only to salute a man who, though seven thousand miles away I regard as one of my closest friends. His letters, which breathe such benevolent warmth, an all too short association with him in Paris in 1949 ...
openaire +4 more sources
Congenitally deaf children's care trajectories in the context of universal neonatal hearing screening: a qualitative study of the parental experiences [PDF]
, 2011 The objective of this study is to examine the early care trajectories of congenitally deaf children from a parental perspective, starting with universal neonatal hearing screenings.
Desnerck, Greetje +7 more
core +2 more sources
Germline TP53 Mutations Causing Diamond–Blackfan Anemia: A French Report
Pediatric Blood &Cancer, EarlyView.ABSTRACT Diamond–Blackfan anemia is a rare congenital erythroblastopenia typically caused by mutations in ribosomal protein genes. Recently, gain‐of‐function mutations in TP53 have been identified as a novel cause of Diamond–Blackfan anemia. We report two French patients who both harbored a heterozygous TP53 deletion (NM_000546.5: c.1077delA; p ...
Rafael Moisan +6 more
wiley +1 more source
Early diagnosis of microelement imbalance in newborns with respiratory distreess syndrome [PDF]
, 2013 Respiratory distress syndrome (RDS) gets the high rank in the neonatal mortality structure. It develops as the consequence after the surfactant deficiency state, but mostly the premature newborns obtain it.
Kovchun, A.V.
core
Retinoblastoma: Identifying the Diagnostic Signs for Early Treatment [PDF]
, 2015 Retinoblastoma is a rare but significant cause of childhood eye cancer world-wide. The prognosis depends upon early diagnosis and treatment but also upon accurate classification of the tumours.
Barratt, K. +4 more
core +2 more sources