Advances in clinical next-generation sequencing: target enrichment and sequencing technologies.

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：: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：:Hearing loss has a genetic etiology in the majority of cases and is very common. The universal newborn hearing screening program, together with remarkable recent progress in the characterization of genes associated with the function of hearing, have resulted in increased demand and exciting possibilities of detecting ...

journal_title：Expert review of molecular diagnostics

authors： Schrijver I,Gardner P

更新日期：2006-05-01 00:00:00

abstract：:The knowledge that the organism's metabolome is a potentially informative mirror of the impact of disease and its dynamics has led to promising developments in cancer research, strongly geared toward the discovery of new biomarkers of disease onset and progression. The present text reviews the advances made in the las...

journal_title：Expert review of molecular diagnostics

authors： Duarte IF,Rocha CM,Gil AM

更新日期：2013-09-01 00:00:00

abstract：INTRODUCTION:A classification of rhabdomyosarcoma (RMS) with prognostic relevance has primarily relied on clinical features and histologic classification as either embryonal or alveolar RMS. The PAX3-FOXO1 and PAX7-FOXO1 gene fusions occur in 80% of cases with the alveolar subtype and are more predictive of outcome tha...

journal_title：Expert review of molecular diagnostics

authors： Arnold MA,Barr FG

更新日期：2017-02-01 00:00:00

abstract：:Prenatal diagnosis of fetal genetic conditions is a standard part of modern obstetric care. Many of the current methods rely on invasive methods and are associated with an inherent risk of fetal loss. Consequently, there has been a long-term goal for development of noninvasive prenatal diagnostic methods. In 1997, the...

journal_title：Expert review of molecular diagnostics

authors： Chiu RW,Lo YM

更新日期：2002-01-01 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：:Recent progress in the development of molecular diagnostics in medicine has been rapid and the hope has been expressed by some people that it will soon be possible to have a detailed 'genetic readout' to assist in the diagnosis of treatment of a variety of diseases. However, such an outcome may be neither achievable n...

journal_title：Expert review of molecular diagnostics

authors： Hall AG,Coulthard SA,Irving JA

更新日期：2003-01-01 00:00:00

abstract：:Existing and future diagnostic technologies are providing a huge amount of data about the patient, which are to be sensibly managed by the treating physician. More than that, the sheer complexity of the interrelation between these data are calling for a radically new approach in the handling of medical data and inform...

journal_title：Expert review of molecular diagnostics

authors： Fierz W

更新日期：2002-07-01 00:00:00

abstract：:It is becoming increasingly clear that the herpes simplex viruses (HSVs) 1 and 2 constitute a major, global, public health problem, particularly as genital herpes is implicated in the causation of a significant percentage of onwards transmission of the HIV virus. A major factor in the transmission of HSV is that most ...

journal_title：Expert review of molecular diagnostics

authors： Ryan C,Kinghorn G

更新日期：2006-09-01 00:00:00

abstract：:The measurement of numerous samples as in drug screening or diagnostics has been improved significantly over recent years. The processing of a great number of carriers with 96, 384 or 1536 wells is not the limiting step anymore and more than 100,000 samples can be analyzed within 24 h. New challenges arise in optimizi...

journal_title：Expert review of molecular diagnostics

authors： Schaertl S,Meyer-Almes FJ

更新日期：2001-11-01 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: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：:A concise survey of the emerging PD-loop technology is presented, which outlines several exemplary methods with robust DNA diagnostic potential: duplex DNA capture, topological DNA labeling, nondenaturing DNA sequencing and hybridization of molecular beacons to double-stranded DNA. Advantages of these new PNA-based as...

journal_title：Expert review of molecular diagnostics

authors： Demidov VV

更新日期：2001-09-01 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：:Neurodevelopmental disorders, such as autism, are complex entities that can be caused by biological and social factors. In a subset of patients with congenital neurodevelopmental disorders, clear diagnosis can be achieved using DNA sequence-based analysis to identify changes in the DNA sequence (genetic variation). Ho...

journal_title：Expert review of molecular diagnostics

authors： Kubota T,Miyake K,Hariya N,Mochizuki K

更新日期：2014-07-01 00:00:00

abstract：:With the emergence of new viral infections, it is necessary to set up new target-specific assays, based on existing molecular techniques such as real-time PCR, as quickly as possible. Without these diagnostic tools, the geographical spread of new infections, follow-up of the disease outbreak and analysis of the pathog...

journal_title：Expert review of molecular diagnostics

authors： Pas SD,Koopmans MP,Niedrig M

更新日期：2016-01-01 00:00:00

abstract：:Introduction: Currently, genetic testing of BRCA1/2 genes includes screening for single-nucleotide variants, small insertions/deletions, and copy number variations (CNVs). In fact, many studies document the involvement of BRCA1/2 gene rearrangements in genetic predisposition to breast and ovarian cancer. Large genomic...

journal_title：Expert review of molecular diagnostics

authors： Concolino P,Capoluongo E

更新日期：2019-09-01 00:00:00

abstract：:Invasive candidiasis is the most important opportunistic fungal infection, causing high morbidity and mortality. Traditional methods of diagnosis, which include blood culture and biopsy, usually lack both sensitivity and specificity, or become positive late in the course of the infection. Therefore, new nonculture-bas...

journal_title：Expert review of molecular diagnostics

authors： Laín A,Elguezabal N,Moragues MD,García-Ruiz JC,del Palacio A,Pontón J

更新日期：2008-05-01 00:00:00

abstract：:Miniature optical sensors that specifically identify low concentrations of environmental and biological substances are in high demand. Currently, there is no optical sensor that provides identification of the aforementioned species without amplification techniques at naturally occurring concentrations. Recently, it ha...

journal_title：Expert review of molecular diagnostics

authors： Haes AJ,Duyne RP

更新日期：2004-07-01 00:00:00

abstract：:Introduction: Sepsis, defined as a life-threatening organ dysfunction resulting from dysregulated host response to infection, is still a major challenge for healthcare systems. Early diagnosis is highly needed, yet challenging, due to the non-specificity of clinical symptoms. Rapid and targeted application of therapy ...

journal_title：Expert review of molecular diagnostics

authors： Schenz J,Weigand MA,Uhle F

更新日期：2019-12-01 00:00:00

abstract：:Klinefelter syndrome is the most common chromosome abnormality in humans. The estimated prevalence is one in 500 to one in 1000 males but due to the widely variable and often aspecific features, only one in four cases are recognized. The most specific clinical features which can be observed at adult age are small test...

journal_title：Expert review of molecular diagnostics

authors： Giltay JC,Maiburg MC

更新日期：2010-09-01 00:00:00

abstract：:Molecular genetic testing involves DNA analysis using various methods for the purpose of diagnosing genetic disorders. In the prenatal DNA diagnostic setting, fetal DNA is usually tested for a specific single-gene disorder for which the fetal risk is 25% or more. In contrast, cytogenetic testing is often used to detec...

journal_title：Expert review of molecular diagnostics

authors： Roa BB,Pulliam J,Eng CM,Cheung SW

更新日期：2005-11-01 00:00:00

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：:In the field of oncology, clinical molecular diagnostics and biomarker discoveries are constantly advancing as the intricate molecular mechanisms that transform a normal cell into an aberrant state in concert with the dysregulation of alternative complementary pathways are increasingly understood. Progress in biomarke...

journal_title：Expert review of molecular diagnostics

authors： Ong FS,Das K,Wang J,Vakil H,Kuo JZ,Blackwell WL,Lim SW,Goodarzi MO,Bernstein KE,Rotter JI,Grody WW

更新日期：2012-07-01 00:00:00

abstract：:In recent years, quantitative real-time PCR tests have been extensively developed in clinical microbiology laboratories for routine diagnosis of infectious diseases, particularly bacterial diseases. This molecular tool is well-suited for the rapid detection of bacteria directly in clinical specimens, allowing early, s...

journal_title：Expert review of molecular diagnostics

authors： Maurin M

更新日期：2012-09-01 00:00:00

abstract：:The burden of cervical cancer is very high in low-resource countries, while it is lower in several high-income countries. Secondary prevention based on cervical screening has been very successful in countries where the resources exist to ensure high-quality and good coverage of the population at risk. In many develope...

journal_title：Expert review of molecular diagnostics

authors： Grce M

更新日期：2009-11-01 00:00:00

abstract：INTRODUCTION:Cytomegalovirus (CMV) is a common opportunistic infection that contributes to poor outcomes in hematopoietic stem cell transplant (HSCT) recipients. Prevention of CMV end-organ disease in allogeneic HSCT recipients is commonly achieved by preemptive antiviral therapy of asymptomatic CMV reactivation that i...

journal_title：Expert review of molecular diagnostics

authors： Ramanan P,Razonable RR

更新日期：2017-07-01 00:00:00

abstract：INTRODUCTION:Bipolar disorder is a chronic and disabling mood disorder with a complex pathophysiological basis. A significant percentage of patients do not receive correct diagnosis which directly influences therapeutic response, rendering recovery troublesome. There is a long-standing need for proper non-clinically ba...

journal_title：Expert review of molecular diagnostics

authors： Teixeira AL,Salem H,Frey BN,Barbosa IG,Machado-Vieira R

更新日期：2016-11-01 00:00:00

abstract：:The natural history of high-grade cervical intraepithelial neoplasia (CIN) is largely unpredictable and current histopathological examination is unable to differentiate between lesions that will regress and those that will not. Therefore, most high-grade lesions are currently treated by surgical excision, leading to o...

journal_title：Expert review of molecular diagnostics

authors： Koeneman MM,Kruitwagen RF,Nijman HW,Slangen BF,Van Gorp T,Kruse AJ

更新日期：2015-04-01 00:00:00