Advanced molecular cytogenetics in human and mouse.

abstract：INTRODUCTION:Osteoarthritis (OA) is a highly heterogenous disease influenced by different molecular, anatomic, and physiologic imbalances. Some of the bottlenecks for enhanced diagnosis and therapeutic assessment are the lack of validated biomarkers and early diagnosis tools. In this narrative review, we analyze the po...

journal_title：Expert review of molecular diagnostics

authors： Casal-Beiroa P,González P,Blanco FJ,Magalhães J

更新日期：2020-08-01 00:00:00

abstract：:Whole-exome sequencing (WES) represents a significant breakthrough in the field of human genetics. This technology has largely contributed to the identification of new disease-causing genes and is now entering clinical laboratories. WES represents a powerful tool for diagnosis and could reduce the 'diagnostic odyssey'...

journal_title：Expert review of molecular diagnostics

authors： Tetreault M,Bareke E,Nadaf J,Alirezaie N,Majewski J

更新日期：2015-06-01 00:00:00

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：INTRODUCTION:There is growing interest in the possibility of measuring the macronutrient content of human milk. Several studies that intend to validate commercially available human milk analyzers have been published with inconsistent results. This review will focus on currently available, verified methodologies for ana...

journal_title：Expert review of molecular diagnostics

authors： Borràs-Novell C,Herranz Barbero A,Aldecoa-Bilbao V,Feixas Orellana G,Balcells Esponera C,Sánchez Ortiz E,García-Algar O,Iglesias Platas I

更新日期：2020-09-01 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:Nanoparticle-based disease diagnostics harness a range of unique physical and chemical phenomena for the detection of biomarkers at exceedingly low levels. This capability potentially enables the diagnosis of disease earlier in its progression and improves the likelihood of positive treatment outcomes. Thi...

journal_title：Expert review of molecular diagnostics

authors： Laurentius LB,Owens NA,Park J,Crawford AC,Porter MD

更新日期：2016-08-01 00:00:00

abstract：:Non-targeted identification of microbes is now possible directly in biological samples, based on whole-genome-NGS (WG-NGS) techniques that allow deep sequencing of nucleic acids, data mining and sorting out of sequences of pathogens without any a priori hypothesis. WG-NGS was first only used as a research tool due to ...

journal_title：Expert review of molecular diagnostics

authors： Lecuit M,Eloit M

更新日期：2015-01-01 00:00:00

abstract：:The accuracy of new molecular diagnostics, fluoresence in situ hybridization or quantitative fluorescence-PCR (collectively known as rapid aneuploidy screening), in prenatal diagnosis has already been demonstrated in a number of large studies. The challenge now is how to apply them clinically in the most cost-effectiv...

journal_title：Expert review of molecular diagnostics

authors： Leung WC,Lau ET,Lao TT,Tang MH

更新日期：2004-05-01 00:00:00

abstract：:The therapeutic management of patients with lupus nephritis (LN) remains a major challenge. The availability of biomarkers that accurately predict renal flares, response to immunosuppressive treatment and risk of progression to end-stage renal disease would allow the more effective use of currently available immunosup...

journal_title：Expert review of molecular diagnostics

authors： Edelbauer M,Ho J

更新日期：2011-07-01 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

abstract：:Noninvasive tests for detecting genetic or molecular alterations in urine indicative of urothelial cancer are increasingly becoming the focus of urological cancer research. Since its approval by the US FDA in 2001, the fluorescence in situ hybridization test (Vysis UroVysion) has been widely evaluated. In general, pub...

journal_title：Expert review of molecular diagnostics

authors： Arentsen HC,de la Rosette JJ,de Reijke TM,Langbein S

更新日期：2007-01-01 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：: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：BACKGROUND:Although the majority of nasopharyngeal carcinoma (NPC) patients demonstrate favorable outcomes after radiotherapy and/or chemotherapy, about 8-10% of patients will develop recurrent disease, and genomic alterations (GAs) associated with the recurrence are unclear. METHODS:This study investigated the GAs in...

journal_title：Expert review of molecular diagnostics

authors： Cho WCS,Tse KP,Ngan RKC,Cheuk W,Ma VWS,Yang YT,Yip TTC,Tan KT,Chen SJ

更新日期：2020-11-01 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：:Real-time quantitative PCR allows the sensitive, specific and reproducible quantitation of nucleic acids. Since its introduction, real-time quantitative PCR has revolutionized the field of molecular diagnostics and the technique is being used in a rapidly expanding number of applications. This exciting technology has ...

journal_title：Expert review of molecular diagnostics

authors： Arya M,Shergill IS,Williamson M,Gommersall L,Arya N,Patel HR

更新日期：2005-03-01 00:00:00

abstract：:The emergence of drug resistance remains one of the most challenging issues in the treatment of HIV-1 infection. The extreme replication dynamics of HIV facilitates its escape from the selective pressure exerted by the human immune system and by the applied combination drug therapy. This article reviews computational ...

journal_title：Expert review of molecular diagnostics

authors： Cordes F,Kaiser R,Selbig J

更新日期：2006-03-01 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：: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 molecular investigation of lung cancer has opened up an advanced area for the diagnosis and therapeutic management of lung cancer patients. Gene alterations in cancer initiation and progression provide not only information on molecular changes in lung cancer but also opportunities in advanced therapeutic regime by...

journal_title：Expert review of molecular diagnostics

authors： Li CM,Chu WY,Wong DL,Tsang HF,Tsui NB,Chan CM,Xue VW,Siu PM,Yung BY,Chan LW,Wong SC

更新日期：2015-01-01 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：:For most diseases, better biomarkers are urgently needed to enable (early) detection, diagnosis, prognosis, stratification for therapy and response monitoring. Proteomics delineates gene products that carry out the majority of cellular functions, and thereby may not only yield insight into altered signaling pathways i...

journal_title：Expert review of molecular diagnostics

authors： Pham TV,Piersma SR,Oudgenoeg G,Jimenez CR

更新日期：2012-05-01 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：: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：: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：:Tuberculosis (TB) is the most deadly infectious disease in the world. TB control relies on passive case findings and targeted treatment of latently infected individuals at high risk of disease progression. Tuberculin skin testing (TST) is conventionally used for detection of TB infection. Recently, blood assays measur...

journal_title：Expert review of molecular diagnostics

authors： Bocchino M,Bellofiore B,Matarese A,Galati D,Sanduzzi A

更新日期：2009-03-01 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

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: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：:Leptospirosis is a bacterial zoonotic disease that remains a public health problem worldwide. Unfortunately, the current gold standard test used for the serological diagnosis of leptospirosis has some drawbacks and there is no vaccine available for successful prevention of leptospirosis in humans. Therefore, recent re...

journal_title：Expert review of molecular diagnostics

authors： Thongboonkerd V

更新日期：2008-01-01 00:00:00