The clinical implementation of copy number detection in the age of next-generation sequencing.

abstract：:Methylation of cytosines in cytosine-guanine (CpG) dinucleotides is one of the most important epigenetic alterations in animals. The presence of methylcytosine in the promoter of specific genes has profound consequences on local chromatin structure and on the regulation of gene expression. Changes in DNA methylation p...

journal_title：Expert review of molecular diagnostics

authors： Dehan P,Kustermans G,Guenin S,Horion J,Boniver J,Delvenne P

更新日期：2009-10-01 00:00:00

abstract：:Pharmacogenetics is changing the way medicines are discovered, developed and delivered to patients. In this article, we present the 'prescription' perspective--how the results of pharmacogenetic research will help minimize the risk of costly adverse drug reactions and treatment failures, by providing predictive tools ...

journal_title：Expert review of molecular diagnostics

authors： Renegar G,Rieser P,Manasco P

更新日期：2001-09-01 00:00:00

abstract：:Stroke is a multifactorial disease responsible for nearly 10% of deaths each year in industrialized countries. While some monogenic forms of stroke have been described, the vast majority result from the common polygenic form of the disease. Progress in molecular genetics has allowed the identification, through genome-...

journal_title：Expert review of molecular diagnostics

authors： Domingues-Montanari S,Mendioroz M,del Rio-Espinola A,Fernández-Cadenas I,Montaner J

更新日期：2008-07-01 00:00:00

abstract：:Skin melanoma, a life-threatening disease, has a recently reported worldwide increase in incidence, despite primary prevention. Skin melanoma statistics emphasize the need for finding markers related to the immune response of the host. The mechanisms that are able to over-power the local immune surveillance comprise m...

journal_title：Expert review of molecular diagnostics

authors： Neagu M,Constantin C,Tanase C

更新日期：2010-10-01 00:00:00

abstract：INTRODUCTION:Despite advances in surgery and chemotherapy for ovarian cancer, 70% of women still succumb to the disease. Biomarkers have contributed to the management of ovarian cancer by monitoring response to treatment, detecting recurrence, distinguishing benign from malignant pelvic masses and attempting to detect ...

journal_title：Expert review of molecular diagnostics

authors： Yang WL,Lu Z,Bast RC Jr

更新日期：2017-06-01 00:00:00

abstract：:EU regulations stipulate the labeling of food products containing genetically modified organisms (GMOs) unless the GMO content is due to adventitious and unintended 'contamination' and not exceeding the 1% level at ingredient basis. In addition, member states have to ensure full traceability at all stages of the placi...

journal_title：Expert review of molecular diagnostics

authors： Aarts HJ,van Rie JP,Kok EJ

更新日期：2002-01-01 00:00:00

abstract：:Background: We analyzed the correlation between heart-type fatty acid-binding protein (HFABP) and the development of acute kidney injury (AKI) in patients with sepsis and estimated the predictive capacity of HFABP for sepsis-associated acute kidney injury (SAKI). Methods: In this retrospective observational study, we ...

journal_title：Expert review of molecular diagnostics

authors： Jiang D,Shen M,Yuan X,Wang M,Li S,Jiang W,Zhou Z,Xi P,Wang T,Shen Y

更新日期：2019-08-01 00:00:00

abstract：:Certain optical conditions permit the unaided eye to detect thickness changes on surfaces on the order of 20 A, which are of similar dimensions to monomolecular interactions between proteins or hybridization of complementary nucleic acid sequences. Such detection exploits specific interference of reflected white light...

journal_title：Expert review of molecular diagnostics

authors： Jenison RD,Bucala R,Maul D,Ward DC

更新日期：2006-01-01 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：:The emerging field of metabolomics, in which a large number of small-molecule metabolites from body fluids or tissues are detected quantitatively in a single step, promises immense potential for early diagnosis, therapy monitoring and for understanding the pathogenesis of many diseases. Metabolomics methods are mostly...

journal_title：Expert review of molecular diagnostics

authors： Gowda GA,Zhang S,Gu H,Asiago V,Shanaiah N,Raftery D

更新日期：2008-09-01 00:00:00

abstract：:Activating mutation of KRAS plays a significant role in the pathogenesis of common human malignancies and molecular testing of KRAS mutation has emerged as an essential biomarker in the current practice of clinical oncology. The presence of KRAS mutation is generally associated with clinical aggressiveness of the canc...

journal_title：Expert review of molecular diagnostics

authors： Perincheri S,Hui P

更新日期：2015-03-01 00:00:00

abstract：:Cardiomyopathies are an important and heterogeneous group of common cardiac diseases. An increasing number of cardiomyopathies are now recognized to have familial forms, which result from single-gene mutations that render a Mendelian inheritance pattern, including hypertrophic cardiomyopathy, dilated cardiomyopathy, r...

journal_title：Expert review of molecular diagnostics

authors： Callis TE,Jensen BC,Weck KE,Willis MS

更新日期：2010-04-01 00:00:00

abstract：:Most common diseases also run in families as rare, monogenic forms. Diabetes is no exception. Mutations in approximately 20 different genes are now known to cause monogenic diabetes, a disease group that can be subclassified into maturity-onset diabetes of the young, neonatal diabetes and mitochondrial diabetes. In so...

journal_title：Expert review of molecular diagnostics

authors： Molven A,Njølstad PR

更新日期：2011-04-01 00:00:00

abstract：:Evaluation of: Wang WS, Liu LX, Li GP et al. Combined serum CA19-9 and miR-27a-3p in peripheral blood mononuclear cells to diagnose pancreatic cancer. Cancer Prev. Res. (Phila.) 6(4), 331-338 (2013). Patients with pancreatic ductal adenocarcinoma (PDAC) have a bleak outlook, primarily because tumors are detected late ...

journal_title：Expert review of molecular diagnostics

authors： Frampton AE,Fletcher CE,Gall TM,Castellano L,Bevan CL,Stebbing J,Krell J

更新日期：2013-06-01 00:00:00

abstract：:Rheumatoid arthritis (RA) is a systemic, chronic and inflammatory disease of unknown etiology. HLA-DRB1 and PTPN22 1858T gene variants are risk factors of RA, clinical manifestations and rate of progression of joint destruction in this autoimmune disease. Currently, several immunopathogenetic models of other genes (CT...

journal_title：Expert review of molecular diagnostics

authors： Nagy ZB,Csanád M,Tóth K,Börzsönyi B,Demendi C,Rigó J Jr,Joó JG

更新日期：2010-07-01 00:00:00

abstract：INTRODUCTION:Aspergillus species, primarily Aspergillus fumigatus, are still the most emerging fungal pathogens. Within recent years, novel molecular methods have been developed to improve the diagnosis of life-threatening invasive aspergillosis in high risk patients. Especially patients with malignant hematological di...

journal_title：Expert review of molecular diagnostics

authors： Buchheidt D,Reinwald M,Hofmann WK,Boch T,Spiess B

更新日期：2017-06-01 00:00:00

abstract：INTRODUCTION:Fine needle aspiration (FNA) with cytologic examination remains the standard of care for investigation of thyroid nodules. However, as many as 30% of FNA samples are cytologically indeterminate for malignancy, which confounds clinical management. To reduce the burden of repeat diagnostic testing and unnece...

journal_title：Expert review of molecular diagnostics

authors： Moore MD,Panjwani S,Gray KD,Finnerty BM,Zarnegar R,Fahey TJ 3rd

更新日期：2017-06-01 00:00:00

abstract：:Signal-encoded microparticles and nanoparticles have been used to label many reactions simultaneously for target identification in assays, and thus are an indispensable part of multiplex technologies. With the increasing demand for multiplexed molecular detection, encoded particles have evolved from pattern encoding t...

journal_title：Expert review of molecular diagnostics

authors： Li Y,Luo D

更新日期：2006-07-01 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

abstract：:Alzheimer's disease is the most common form of dementia in the elderly and its prevalence is rapidly rising. Although there is no cure for Alzheimer's disease, treatment can be administered to slow progression or delay the onset of symptoms. A major challenge is the early identification of patients who will develop Al...

journal_title：Expert review of molecular diagnostics

authors： Chang CY,Silverman DH

更新日期：2004-01-01 00:00:00

abstract：:The hematogenous dissemination of cancer and development of distant metastases is the cause of nearly all cancer deaths. Detection of circulating tumor cells (CTCs) as a surrogate biomarker of metastases has gained increasing interest. There is accumulating evidence on development of novel technologies for CTC detecti...

journal_title：Expert review of molecular diagnostics

authors： Balic M,Lin H,Williams A,Datar RH,Cote RJ

更新日期：2012-04-01 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：AIM:Molecular diagnosis of fragile X syndrome demands assessment of fragile X mental retardation 1 (FMR1) CGG repeat size and methylation status, while predicting disease transmission risk requires determination of AGG interruption pattern. There is currently no single assay that provides all three categories of inform...

journal_title：Expert review of molecular diagnostics

authors： Rajan-Babu IS,Teo CR,Lian M,Lee CG,Law HY,Chong SS

更新日期：2015-03-01 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：INTRODUCTION:Esophageal and esophago-gastric junction (EGJ) adenocarcinomas remain a major health problem worldwide with a worryingly increasing incidence. Recent trials indicate survivals benefit for preoperative or perioperative chemoradiotherapy compared to surgery alone. Beside standard chemoradiotherapy regimens, ...

journal_title：Expert review of molecular diagnostics

authors： Piro G,Carbone C,Santoro R,Tortora G,Melisi D

更新日期：2018-04-01 00:00:00

abstract：:High throughput gene sequencing is transforming the utilization of genomics in patient care by providing physicians with a powerful tool to aid the diagnosis and management of disease, particularly in precision oncology. As next-generation sequencing (NGS)-based diagnostic assays are developed, significant hurdles suc...

journal_title：Expert review of molecular diagnostics

authors： Kruglyak KM,Lin E,Ong FS

更新日期：2014-07-01 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：:Introduction: The use of liquid biopsy on the blood from solid malignancies provides a convenient way of detecting actionable mutations, monitoring treatment response, detecting early recurrence and prognosticating outcomes. The aim of this review is to discuss the current status and future direction of serum biomarke...

journal_title：Expert review of molecular diagnostics

authors： Kouba E,Lopez-Beltran A,Montironi R,Massari F,Huang K,Santoni M,Chovanec M,Cheng M,Scarpelli M,Zhang J,Cimadamore A,Cheng L

更新日期：2020-02-01 00:00:00

abstract：INTRODUCTION:Preimplantation genetic diagnosis (PGD) was introduced as an alternative to prenatal diagnosis: embryos cultured in vitro were analysed for a monogenic disease and only disease-free embryos were transferred to the mother, to avoid the termination of pregnancy with an affected foetus. It soon transpired tha...

journal_title：Expert review of molecular diagnostics

authors： Sermon K

更新日期：2017-01-01 00:00:00