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Journal of clinical medicine, ISSN 2077-0383, 08/2019, Volume 8, Issue 8, p. 1174
Corneal dystrophies (CDs) are a diverse group of inherited disorders with a heterogeneous genetic background. Here, we report the identification of a novel... 
ZNF143 gene | endothelial corneal dystrophy | array-comparative genomic hybridization (CGH) | posterior polymorphous corneal dystrophy (PPCD) | three-dimensional modeling | novel mutation | whole exome sequencing (WES) | reverse epithelial-to-mesenchymal transition (reverse EMT) | transfection
Journal Article
Scandinavian Journal of Clinical and Laboratory Investigation, ISSN 0036-5513, 07/2019, Volume 79, Issue 5, pp. 347 - 353
The analytical performance and clinical application of measuring insulin and connecting peptide (C-peptide) by point of care (POC) assay were evaluated. A POC... 
point-of-care testing | diabetes mellitus | Insulin | insulin resistance | C-peptide | MEDICINE, RESEARCH & EXPERIMENTAL | GLUCOSE | RESISTANCE | SENSITIVITY | Index Medicus
Journal Article
Annals of laboratory medicine, 01/2020, Volume 40, Issue 1, pp. 68 - 71
Evaluation of diagnostic tests requires reference standards, which are often unavailable. Latent class analysis (LCA) can be used to evaluate diagnostic tests... 
Index Medicus
Journal Article
Clinica Chimica Acta, ISSN 0009-8981, 04/2018, Volume 479, pp. 7 - 13
The heavy-light chain (HLC) assay enables the accurate measurement of each isotype-specific heavy and light chain (i.e., IgGĸ, IgGλ, IgAĸ, and IgAλ) and the... 
Biomarker | Heavy-light chain assay | Multiple myeloma | SURVIVAL | RATIOS | QUANTIFICATION | SERUM | MONOCLONAL GAMMOPATHIES | FREE LIGHT-CHAIN | ELECTROPHORESIS | BIOLOGICAL VARIATION | MEDICAL LABORATORY TECHNOLOGY | PROTEINS | Index Medicus
Journal Article
Blood research, ISSN 2287-979X, 03/2019, Volume 54, Issue 1, pp. 52 - 56
Granulocyte transfusion (GTx) is performed as a supportive therapy in severe neutropenic patients caused by various conditions. The study aimed to analyze the... 
Absolute neutrophil counts | Granulocyte transfusion | Granulocyte colony-stimulating factor | Total white blood cell counts | Original | Neutropenia
Journal Article
Journal Article
Annals of Hematology, ISSN 0939-5555, 2/2012, Volume 91, Issue 2, pp. 193 - 201
SET-NUP214 rearrangement is a recently recognized recurrent chromosomal translocation mostly observed in T-ALL. In order to characterize this rare entity, we... 
Breakpoint sequencing | Medicine & Public Health | Hematology | Oncology | del(q34) | T-cell ALL | SET-NUP214 | ACUTE UNDIFFERENTIATED LEUKEMIA | SET-NUP214 FUSION | FUSION TRANSCRIPTS | IMMUNOGLOBULIN | ACUTE MYELOID-LEUKEMIA | DIFFERENTIATION | HEMATOLOGY | SET-CAN | Antigens, CD - immunology | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma - pathology | Histone Chaperones - genetics | Humans | Middle Aged | Immunophenotyping | In Situ Hybridization, Fluorescence | Male | Comparative Genomic Hybridization - methods | Transcription Factors - genetics | Antigens, CD - genetics | Nuclear Pore Complex Proteins - genetics | Young Adult | Phenotype | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma - genetics | Gene Rearrangement | Adolescent | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma - classification | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma - physiopathology | Cytogenetics - methods | Adult | Female | Aged | Medical colleges | Analysis | Genetic research | Bone marrow | Genetic aspects | Adults | Transplantation | Chemical properties | T cells | Public health | Breakpoints | Lymphoblasts | Acute lymphatic leukemia | Nucleotide sequence | Introns | CD13 antigen | Data processing | Lymphocytes T | Nucleotides | T-cell receptor | Chromosome translocations | Classification | Leukemogenesis | genomics | Chromosome aberrations | Index Medicus
Journal Article
Annals of laboratory medicine, ISSN 2234-3806, 09/2019, Volume 39, Issue 5, pp. 438 - 446
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired pluripotent hematopoietic stem cell disorder associated with an increase in the number of... 
Paroxysmal nocturnal hemoglobinuria | PIGA mutation | Original | T-cell receptor clonality
Journal Article
The Journal of Dermatology, ISSN 0385-2407, 09/2015, Volume 42, Issue 9, pp. 867 - 873
Journal Article
Clinica Chimica Acta, ISSN 0009-8981, 01/2019, Volume 488, pp. 81 - 89
Minimal residual disease (MRD) monitoring is a powerful tool to predict the risk of relapse. Herein, we present an MRD monitoring strategy for B-cell... 
Minimal residual disease | Repertoire | High-throughput sequencing | Immunoglobulin clonality | B-cell lymphoblastic leukemia | EVOLUTION | MALIGNANCIES | MEDICAL LABORATORY TECHNOLOGY | Care and treatment | Immunoglobulins | Chemotherapy | Lymphocytic leukemia | Analysis | Cancer | Index Medicus
Journal Article