Oligonucleotide microarrays in constitutional genetic diagnosis.

abstract：INTRODUCTION:The role of copy number variants (CNVs) in disease is now well established. In parallel NGS technologies, such as long-read technologies, there is continual development and data analysis methods continue to be refined. Clinical exome sequencing data is now a reality for many diagnostic laboratories in both...

journal_title：Expert review of molecular diagnostics

authors： Hehir-Kwa JY,Tops BBJ,Kemmeren P

更新日期：2018-10-01 00:00:00

abstract：:Herbal medicines including traditional Chinese medicine are becoming increasingly more popular worldwide. However, there is considerable potential for interaction between herbal components and drugs, as all herbal medicines contain a combination of potentially biologically active compounds possessing various inherent ...

journal_title：Expert review of molecular diagnostics

authors： Hu M,Fan L,Zhou HH,Tomlinson B

更新日期：2012-11-01 00:00:00

abstract：:Trypanosoma cruzi is the etiologic agent of Chagas' disease, a chronic inflammatory condition that results in heart and digestive complications. The first draft of the parasite genome is now complete and it is expected that, along with the published genomic and proteomic analyses discussed herein, it will lead to the ...

journal_title：Expert review of molecular diagnostics

authors： Huete-Pérez JA,Flores-Obando RE,Ghedin E,Caffrey CR

更新日期：2005-07-01 00:00:00

abstract：:Introduction: Osteoarthritis (OA) is a degenerative disease which primarily affects hyaline cartilage, leading to pain, stiffness and loss of mobility of the entire articulation. Diagnosis is commonly based on symptoms and radiographs, but there is a growing interest in detecting novel biomarkers, in serum, urine and ...

journal_title：Expert review of molecular diagnostics

authors： Ravalli S,Szychlinska MA,Lauretta G,Di Rosa M,Musumeci G

更新日期：2020-04-01 00:00:00

abstract：:Testing for amplification of the human EGF receptor 2 (HER2) gene by in situ hybridization is a central principle for the identification of breast cancer patients likely to respond to treatments directed toward HER2. However, its application in clinical routine has been somewhat restricted by the typical use of a visu...

journal_title：Expert review of molecular diagnostics

authors： Foged NT,Brügmann A,Jørgensen JT

更新日期：2013-04-01 00:00:00

abstract：:Finding early-stage lung cancer where there is a higher chance for patient survival remains a major healthcare challenge. Low-dose spiral computed tomography for high-risk patients can increase the detection of cancers with certain tradeoffs, such as increased radiation exposure and surgical risks for false-positive c...

journal_title：Expert review of molecular diagnostics

authors： Palma JF,Das P,Liesenfeld O

更新日期：2016-01-01 00:00:00

abstract：:Differences in protein levels and the activation of signaling pathways have been extensively studied in tumor tissues, but the implementation of protein profiling methods in routine hospital workflows lags far behind that of nucleic acid-based approaches. In this review, major technologies that are currently used for ...

journal_title：Expert review of molecular diagnostics

authors： Boellner S,Becker KF

更新日期：2015-01-01 00:00:00

abstract：:Introduction: The last decade has seen massive efforts towards the identification and the potential use of predictive biomarkers for the pregnancy pathology preeclampsia. The angiogenic factors sFlt-1 and placental growth factor (PGF) have been in focus and have been massively supported. Areas covered: This review des...

journal_title：Expert review of molecular diagnostics

authors： Huppertz B

更新日期：2018-12-01 00:00:00

abstract：INTRODUCTION:Hearing loss (HL) is the most common birth defect in industrialized countries with far-reaching social, psychological and cognitive implications. It is an extremely heterogeneous disease, complicating molecular testing. The introduction of next-generation sequencing (NGS) has resulted in great progress in ...

journal_title：Expert review of molecular diagnostics

authors： Sommen M,Wuyts W,Van Camp G

更新日期：2017-08-01 00:00:00

abstract：:Introduction: The landscape of systemic treatment options for lung cancer has rapidly evolved with the emergence of immunomodulatory agents such as neutralizing antibodies targeting the programmed cell death protein 1 (PD-1) and its ligand (PD-L1). Another major breakthrough was the introduction of biomarkers, such as...

journal_title：Expert review of molecular diagnostics

authors： Michaelidou K,Agelaki S,Mavridis K

更新日期：2020-03-01 00:00:00

abstract：BACKGROUND:The aim of this manuscript was to explore the molecular basis and identify novel biomarkers for the diagnosis and prognosis of patients with chronic disorder of consciousness. METHODS:A coupled isobaric tag for relative and absolute quantitation-based approach was used to screen differentially expressed pro...

journal_title：Expert review of molecular diagnostics

authors： Bao W,He F,Gao J,Meng F,Zou H,Luo B

更新日期：2018-03-01 00:00:00

abstract：INTRODUCTION:A reliable liver autoimmune serology for the diagnosis of primary biliary cholangitis (PBC) is of particular importance. Recognition of patients at early stages and prompt treatment initiation may alter the outcome, slow progression, delays liver failure, and improves survival. AREAS COVERED:In this revie...

journal_title：Expert review of molecular diagnostics

authors： Gatselis NK,Dalekos GN

更新日期：2016-09-01 00:00:00

abstract：:Acute intermittent porphyria (AIP) is an inherited metabolic disease with an autosomal dominant pattern of inheritance. The disease is caused by a partial deficiency of porphobilinogen deaminase (PBGD) in heme biosynthesis. Since biochemical measurements of patients and their healthy relatives overlap, the diagnosis o...

journal_title：Expert review of molecular diagnostics

authors： Kauppinen R

更新日期：2004-03-01 00:00:00

abstract：:Prostate cancer (PCa) is one of the leading causes of cancer death among males, especially in more developed countries. Diagnosis is often achieved at an early stage of the disease with prostate biopsy, following a screening test showing elevated serum levels of prostate-specific antigen or a positive digital rectal e...

journal_title：Expert review of molecular diagnostics

authors： Kontos CK,Adamopoulos PG,Scorilas A

更新日期：2015-01-01 00:00:00

abstract：:Tumorigenesis is a multistep process resulting from DNA mutations observed at the DNA sequence and chromosome level as well as epigenetic changes, which affect expression of oncogenes and tumor suppressor genes. Breast cancer is a very heterogeneous disease that manifests in various histological and clinical types. De...

journal_title：Expert review of molecular diagnostics

authors： Wiechec E

更新日期：2011-05-01 00:00:00

abstract：INTRODUCTION:Syphilis remains an important and preventable cause of stillbirth and neonatal mortality. About 1 million women with active syphilis become pregnant each year. Without treatment, 25% of them will deliver a stillborn baby and 33% a low birth weight baby with an increased chance of dying in the first month o...

journal_title：Expert review of molecular diagnostics

authors： Marks M,Mabey DC

更新日期：2017-04-01 00:00:00

abstract：:The huge parallel sequencing capabilities of next generation sequencing technologies have made them the tools of choice to characterize genomic aberrations for research and diagnostic purposes. For clinical applications, screening the whole genome or exome is challenging owing to the large genomic area to be sequenced...

journal_title：Expert review of molecular diagnostics

authors： Ballester LY,Luthra R,Kanagal-Shamanna R,Singh RR

更新日期：2016-01-01 00:00:00

abstract：INTRODUCTION:The 2014-16 outbreak of ebola virus disease (EVD) in West Africa resulted in 11,308 deaths. During the outbreak only 60% of patients were laboratory confirmed and global health authorities have identified the need for accurate and readily deployable molecular diagnostics as an important component of the id...

journal_title：Expert review of molecular diagnostics

authors： Tembo J,Simulundu E,Changula K,Handley D,Gilbert M,Chilufya M,Asogun D,Ansumana R,Kapata N,Ntoumi F,Ippolito G,Zumla A,Bates M

更新日期：2019-04-01 00:00:00

abstract：:Concomitant advances made by the Human Genome Project and in the development of nucleic acid screening technologies are driving the expansion of pharmacogenomic research and molecular diagnostics. However, most current technologies are restrictive due to their complexity and/or cost, limiting the potential of personal...

journal_title：Expert review of molecular diagnostics

authors： de Arruda M,Lyamichev VI,Eis PS,Iszczyszyn W,Kwiatkowski RW,Law SM,Olson MC,Rasmussen EB

更新日期：2002-09-01 00:00:00

abstract：:Parkinson's disease (PD) is a common, heterogeneous syndrome diagnosed clinically by the presence of classical neurological symptoms and the absence of 'red flags' that suggest alternative secondary parkinsonian disorders. Neuropathologically, nigrostriatal loss and the presence of proteinaceous inclusions (Lewy bodie...

journal_title：Expert review of molecular diagnostics

authors： Mellick GD,Silburn PA,Sutherland GT,Siebert GA

更新日期：2010-11-01 00:00:00

abstract：:Introduction Thousands of genes are implicated in spermatogenesis, testicular development and endocrine regulation of testicular function. The genetic contribution to male infertility is therefore considerable, and basic and clinical research in the last years found a number of genes that could potentially be used in ...

journal_title：Expert review of molecular diagnostics

authors： Ferlin A,Dipresa S,Delbarba A,Maffezzoni F,Porcelli T,Cappelli C,Foresta C

更新日期：2019-07-01 00:00:00

abstract：:Renal cell carcinoma is one of the common malignancies of the genitourinary tract. In approximately one third of patients, distant metastases are present at the time of initial diagnosis and in another third, the tumor will recur even after nephrectomy with a curative intent. Renal cell carcinoma is resistant to all c...

journal_title：Expert review of molecular diagnostics

authors： Mohammed A,Shergill I,Little B

更新日期：2009-01-01 00:00:00

abstract：:Antimitochondrial antibodies are the serological hallmark of primary biliary cirrhosis (PBC). Besides antimitochondrial antibodies, the autoantibody profile of PBC includes antinuclear antibodies (ANA) which are detectable by indirect immunofluorescence in up to 50% of PBC patients. Two immunofluorescence patterns are...

journal_title：Expert review of molecular diagnostics

authors： Granito A,Muratori P,Quarneti C,Pappas G,Cicola R,Muratori L

更新日期：2012-01-01 00:00:00

abstract：:HIV-1 protease has a broad and complex substrate specificity, which hitherto has escaped a simple comprehensive definition. This, and the relatively high mutation rate of the retroviral protease, makes it challenging to design effective protease inhibitors. Several attempts have been made during the last two decades t...

journal_title：Expert review of molecular diagnostics

authors： Rögnvaldsson T,You L,Garwicz D

更新日期：2007-07-01 00:00:00

abstract：:Colorectal cancer (CRC) is a slow-developing cancer (10-15 years) with one of the highest frequencies in the world's population. Many countries have implemented various CRC screening programs, but have not achieved the desired compliance. Colonoscopy - considered the gold standard for CRC screening - has its limitatio...

journal_title：Expert review of molecular diagnostics

authors： Molnár B,Tóth K,Barták BK,Tulassay Z

更新日期：2015-02-01 00:00:00

abstract：:Introduction: This review concerns biomarkers of blood activation and their measurement in plasma, as described in the literature up to 2019, and from our personal experience. How their measurement can be informative and useful, for research studies or for diagnostic applications, is presented and discussed.Areas cove...

journal_title：Expert review of molecular diagnostics

authors： Amiral J

更新日期：2020-01-01 00:00:00

abstract：:MicroRNAs regulate target gene expression through translation repression or mRNA decay, and they are emerging as important modulators in cellular pathways. Previous studies have shown the occurrence of epigenetically modified miRNAs in colorectal cancer (CRC), identifying these miRNA methylation signatures may provide...

journal_title：Expert review of molecular diagnostics

authors： Cho WC

更新日期：2011-09-01 00:00:00

abstract：:The fundamental strategy of the current postgenomic era or the era of functional genomics is to expand the scale of biologic research from studying single genes or proteins to studying all genes or proteins simultaneously using a systematic approach. As recently developed methods for obtaining genome-wide mRNA express...

journal_title：Expert review of molecular diagnostics

authors： Ewis AA,Zhelev Z,Bakalova R,Fukuoka S,Shinohara Y,Ishikawa M,Baba Y

更新日期：2005-05-01 00:00:00

abstract：:Inappropriate and inaccurate antimicrobial therapy can lead to adverse patient outcomes and also the development of antimicrobial resistance. Peptide nucleic acid (PNA) fluorescence in situ hybridization (FISH) gives rapid reporting with highly sensitive and specific results to clinicians within 3 h after blood cultur...

journal_title：Expert review of molecular diagnostics

authors： Forrest GN

更新日期：2007-05-01 00:00:00

abstract：INTRODUCTION:Drug-induced liver injury (DILI) is a severe adverse drug reaction which is of major concern to patients, clinicians and the pharmaceutical industry. Accurate and rapid detection of DILI is important for patient stratification and treatment in the clinic and benefits preclinical drug design and risk assess...

journal_title：Expert review of molecular diagnostics

authors： Howell LS,Ireland L,Park BK,Goldring CE

更新日期：2018-01-01 00:00:00