Search Results - "Macher, Hada C"
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Monitoring of transplanted liver health by quantification of organ-specific genomic marker in circulating DNA from receptor
Published in PloS one (09-12-2014)“…Health assessment of the transplanted organ is very important due to the relationship of long-term survival of organ transplant recipients and health organ…”
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Total and Fetal Circulating Cell-Free DNA, Angiogenic, and Antiangiogenic Factors in Preeclampsia and HELLP Syndrome
Published in American journal of hypertension (01-07-2017)“…Preeclampsia (PE) is a hypertensive disorder of pregnancy characterized by hypertension and proteinuria. The HELLP syndrome is the most severe form of PE. The…”
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3
Obstructive sleep apnoea syndrome, endothelial function and markers of endothelialization. Changes after CPAP
Published in PloS one (27-03-2015)“…This study tries to assess the endothelial function in vivo using flow-mediated dilatation (FMD) and several biomarkers of endothelium formation/restoration…”
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4
Genotype–phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants
Published in Orphanet journal of rare diseases (21-05-2021)“…Pompe disease (PD) is an autosomal recessive metabolic disorder caused by pathogenic variants in the acid [alpha]-glucosidase gene (GAA) that produces defects…”
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Consumption of orange fermented beverage improves antioxidant status and reduces peroxidation lipid and inflammatory markers in healthy humans
Published in Journal of the science of food and agriculture (01-05-2018)“…BACKGROUND Alcoholic fermentation of fruits has generated novel products with high concentrations of bioactive compounds and moderate alcohol content. The aim…”
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Prenatal genetic diagnosis of monogenic diseases
Published in Advances in laboratory medicine (11-04-2023)“…Prenatal genetic diagnosis of monogenic diseases is a process involving the use of a variety of molecular techniques for the molecular characterization of a…”
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Non-invasive prenatal diagnosis of multiple endocrine neoplasia type 2A using COLD-PCR combined with HRM genotyping analysis from maternal serum
Published in PloS one (07-12-2012)“…The multiple endocrine neoplasia type 2A (MEN2A) is a monogenic disorder characterized by an autosomal dominant pattern of inheritance which is characterized…”
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Circulating cell-free DNA is a predictor of short-term neurological outcome in stroke patients treated with intravenous thrombolysis
Published in Journal of circulating biomarkers (01-01-2016)“…Circulating cell-free DNA (cfDNA) has been described as a prognostic marker for several diseases. Its prognostic value for short-term outcome in stroke…”
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Circulating Tumor Cells Enumeration from the Portal Vein for Risk Stratification in Early Pancreatic Cancer Patients
Published in Cancers (07-12-2021)“…Effective biomarkers are needed to enable personalized medicine for pancreatic cancer patients. This study analyzes the prognostic value, in early pancreatic…”
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Accuracy diagnosis improvement of Fabry disease from dried blood spots: Enzyme activity, lyso‐Gb3 accumulation and GLA gene sequencing
Published in Clinical genetics (01-06-2021)“…The purpose of this study was to examine the applicability of the use of samples in dried blood spot (DBS) for the definitive diagnosis of Fabry disease (FD)…”
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Noninvasive prenatal diagnosis by cell‐free DNA screening for fetomaternal HPA‐1a platelet incompatibility
Published in Transfusion (Philadelphia, Pa.) (01-10-2018)“…BACKGROUND The development of new noninvasive approaches for the diagnosis of human platelet antigen (HPA)‐1 fetomaternal incompatibility has become of great…”
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Family study of a novel mutation of mucopolysaccharidosis type VI with a severe phenotype and good response to enzymatic replacement therapy: Case report
Published in Medicine (Baltimore) (01-10-2018)“…Mucopolysaccharidosis type VI (MPS VI) or Maroteaux-Lamy syndrome is produced by the deficiency of the enzyme arylsulfatase B, responsible for the hydrolysis…”
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Non-invasive Prenatal Diagnosis of Feto-Maternal Platelet Incompatibility by Cold High Resolution Melting Analysis
Published in Advances in experimental medicine and biology (2016)“…Fetal and Neonatal alloimmune thrombocytopenia (FNAIT) is a condition which could occur when pregnant women develop an alloimmunization against paternally…”
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Role of Circulating Cell-free DNA Levels in Patients With Severe Preeclampsia and HELLP Syndrome
Published in American journal of hypertension (01-12-2013)“…BACKGROUND Increased plasma levels of circulating cell-free DNA (c-f DNA) have been recently described in diseases related to ischemia and/or hypoxia…”
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Donor-Specific Cell-Free DNA qPCR Quantification as a Noninvasive Accurate Biomarker for Early Rejection Detection in Liver Transplantation
Published in Journal of clinical medicine (21-12-2022)“…(1) Background: Graft-cell-free DNA (cfDNA) in the circulation of liver transplant recipients has been proposed as a noninvasive biomarker of organ rejection…”
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Hepatitis C Virus Clearance by Direct-Acting Antivirals Agents Improves Endothelial Dysfunction and Subclinical Atherosclerosis: HEPCAR Study
Published in Clinical and translational gastroenterology (01-08-2020)“…Hepatitis C virus (HCV) infection has been related to increased cardiovascular (CV) risk. The aim of this study was to analyze the impact of sustained…”
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Pleural fluid cell-free DNA in parapneumonic pleural effusion
Published in Clinical biochemistry (01-10-2015)“…To measure the accuracy of pleural fluid cell-free DNA (cfDNA) concentration for diagnosis of parapneumonic pleural effusions (PPE). We studied pleural fluids…”
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Detection of p53 Mutations in Circulating DNA of Transplanted Hepatocellular Carcinoma Patients as a Biomarker of Tumor Recurrence
Published in Advances in experimental medicine and biology (2016)“…p53 is the most commonly mutated gene in malignant human cancers. To detect p53 mutations in circulating DNA (cirDNA) of transplanted hepatocellular carcinoma…”
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Screening of KRAS Mutation in Pre- and Post-Surgery Serum of Patients Suffering from Colon Cancer by COLD-PCR HRM
Published in Advances in experimental medicine and biology (2016)“…Genomic characterization of cell-free circulating tumour DNA (ctDNA) may offer an opportunity to assess clonal dynamics throughout the course of a patient's…”
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Evaluation of the State of Transplanted Liver Health by Monitoring of Organ-Specific Genomic Marker in Circulating DNA from Receptor
Published in Advances in experimental medicine and biology (2016)“…The evaluation of the transplanted liver health by non-invasive approaches may offer an improvement in early clinical intervention. As transplanted organs have…”
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