Biomedicines, 2022 Detection and precise genomic mapping of balanced chromosomal abnormalities in patients with impaired fertility or a clinical phenotype represent a challenge for current cytogenomics owing to difficulties with precise breakpoint localization in the ...
Tatyana V. Karamysheva +10 more
doaj +1 more source
Adding a reward increases the reinforcing value of fruit [PDF]
, 2017 Adolescents' snack choices could be altered by increasing the reinforcing value (RV) of healthy snacks compared with unhealthy snacks. This study assessed whether the RV of fruit increased by linking it to a reward and if this increased RV was comparable
Beullens, Kathleen +14 more
core +2 more sources
MCG&BA‐Net: Retinal vessel segmentation using multiscale context gating and breakpoint attention
IET Image Processing, 2022 The accurate segmentation of blood vessels plays a crucial role in screening, diagnosis and treatment of multiple diseases. However, current automated segmentation approaches do not pay enough attention to the vascular topology errors (such as mistaking ...
Pengfei Xu +5 more
doaj +1 more source
Genome reorganization in different cancer types: detection of cancer specific breakpoint regions [PDF]
, 2019 Background: Tumorigenesis is a multi-step process which is accompanied by substantial changes in genome organization. The development of these changes is not only a random process, but rather comprise specific DNA regions that are prone to the ...
Klein, Andreas +3 more
core +1 more source
Direct susceptibility testing by disk diffusion on clinical samples : a rapid and accurate tool for antibiotic stewardship [PDF]
, 2015 We compared the accuracy of direct susceptibility testing (DST) with conventional antimicrobial susceptibility testing (AST), both using disk diffusion, on clinical samples.
Boelens, Jerina +2 more
core +3 more sources
Pharmacodynamics of isavuconazole in experimental invasive pulmonary aspergillosis: implications for clinical breakpoints [PDF]
Journal of Antimicrobial Chemotherapy, 2016 Isavuconazole, a novel triazole antifungal agent, has broad-spectrum activity against Aspergillus spp. and other pathogenic fungi. The isavuconazole exposure-response relationship in experimental invasive pulmonary aspergillosis using galactomannan index (GMI) suppression as a marker of disease clearance was explored.The impact of exposure on GMI ...
Kovanda, Laura L +6 more
openaire +2 more sources
Molecular monitoring of minimal residual disease in two patients with MLL-rearranged acute myeloid leukemia and haploidentical transplantation after relapse [PDF]
, 2012 This report describes the clinical courses of two acute myeloid leukemia patients. Both had MLL translocations, the first a t(10;11)(p11.2;q23) with MLL-AF10 and the second a t(11;19)(q23;p13.1) with MLL-ELL fusion.
Beyer, Jörg +11 more
core +1 more source
Deletions of the derivative chromosome 9 occur at the time of the Philadelphia translocation and provide a powerful and independent prognostic indicator in chronic myeloid leukemia [PDF]
, 2001 Chronic myeloid leukemia (CML) is characterized by formation of the BCR-ABL fusion gene, usually as a consequence of the Philadelphia (Ph) translocation between chromosomes 9 and 22.
Bench, AJ +11 more
core +1 more source
Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis. [PDF]
, 2019 BackgroundHomozygous Familial Hypercholesterolemia (HoFH) is an inherited recessive condition associated with extremely high levels of low-density lipoprotein (LDL) cholesterol in affected individuals.
Balamir, Melek +15 more
core +1 more source
A family case of fertile human 45,X,psu dic(15;Y) males [PDF]
, 2006 We report on a familial case including four male probands from three generations with a 45,X,psu dic(15;Y)(p11.2;q12) karyotype. 45,X is usually associated with a female phenotype and only rarely with maleness, due to translocation of small Y chromosomal
Andersson M +29 more
core +1 more source