Detection of BRCA1/2 large genomic rearrangements in breast and ovarian cancer patients: an overview of the current methods.

abstract：INTRODUCTION:Familial hypercholesterolemia (FH) is a common genetic cause of premature coronary heart disease that is widely underdiagnosed and undertreated. To improve the identification of FH and initiate timely and appropriate treatment strategies, genetic testing is becoming increasingly offered worldwide as a cent...

journal_title：Expert review of molecular diagnostics

authors： Iacocca MA,Hegele RA

更新日期：2017-07-01 00:00:00

abstract：:Interview with Professor Manuel Salto-Tellez by Claire Raison, Commissioning Editor Professor Manuel Salto-Tellez of Queen's University, Belfast, Northern Ireland is an expert histopathologist and molecular diagnostician. Professor Salto-Tellez is a lead investigator at the Northern Ireland Molecular Pathology Laborat...

journal_title：Expert review of molecular diagnostics

authors： Salto-Tellez M,Raison C

更新日期：2015-05-01 00:00:00

abstract：:Next-generation sequencing, also known as massively paralleled sequencing, offers an unprecedented opportunity to study disease mechanisms of inherited retinal dystrophies: a dramatic change from a few years ago. The specific involvement of the retina and the manageable number of genes to sequence make inherited retin...

journal_title：Expert review of molecular diagnostics

authors： Chiang JP,Lamey T,McLaren T,Thompson JA,Montgomery H,De Roach J

更新日期：2015-01-01 00:00:00

abstract：:Cancer becomes the second leading cause of death in the world. An effective strategy for early diagnosis of the disease is key to reduce the mortality and morbidity. Development of effective monoclonal antibody (mAb)-based assays or diagnostic imaging techniques for detection of antigens and small molecules that are r...

journal_title：Expert review of molecular diagnostics

authors： Zhang X,Soori G,Dobleman TJ,Xiao GG

更新日期：2014-01-01 00:00:00

abstract：:The Introduction of targeted therapeutics into clinical practice has created major opportunities for further development of the molecular diagnostics industry. Emerging genomic and proteomic technologies and information are now resulting in the molecular subclassification of disease as the basis for diagnosis, prognos...

journal_title：Expert review of molecular diagnostics

authors： Ross JS,Ginsburg GS

更新日期：2002-11-01 00:00:00

abstract：:The CCN genes encode secreted signaling proteins that participate in fundamental processes including cell adhesion, proliferation and differentiation, embryogenesis, tissue remodeling and patterning. Abnormal expression of CCN proteins is associated with several pathological conditions, including vascular diseases, fi...

journal_title：Expert review of molecular diagnostics

authors： Perbal B

更新日期：2003-09-01 00:00:00

abstract：:Deciphering the cellular and molecular interactions that drive disease within the tissue microenvironment holds promise for discovering drug targets of the future. In order to recapitulate the in vivo interactions through molecular analysis, one must be able to analyze specific cell populations within the context of t...

journal_title：Expert review of molecular diagnostics

authors： Espina V,Heiby M,Pierobon M,Liotta LA

更新日期：2007-09-01 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：: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：: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：: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：: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：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：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：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：:Since aptamers were reported in 1990, research into the applications of aptamers, particularly diagnostic applications, has been growing. Aptamers can act as recognition elements instead of antibodies. In this regard, aptamers have unique characteristics because they are composed of nucleic acids. Intra- and intermole...

journal_title：Expert review of molecular diagnostics

authors： Yoshida W,Abe K,Ikebukuro K

更新日期：2014-03-01 00:00:00

abstract：:The microscopic pathology of Hodgkin lymphoma has been recognized for well over a century; however, only in the past 15 years has the enigmatic nature of this peculiar neoplasm been somewhat unraveled. This has been accomplished via a combination of the acquisition, via microdissection, of the prototypically rare mali...

journal_title：Expert review of molecular diagnostics

authors： Roullet MR,Bagg A

更新日期：2007-11-01 00:00:00

abstract：:Genetic mapping by linkage analysis has been an invaluable tool in the positional strategy to identify the molecular basis of many rare Mendelian disorders. With the attention of the scientific and medical community shifting towards the analysis of more common, complex traits, it has become necessary to develop new ap...

journal_title：Expert review of molecular diagnostics

authors： Forabosco P,Falchi M,Devoto M

更新日期：2005-09-01 00:00:00

abstract：INTRODUCTION:There is a significant interest in developing inexpensive portable biosensing platforms for various applications including disease diagnostics, environmental monitoring, food safety, and water testing at the point-of-care (POC) settings. Current diagnostic assays available in the developed world require so...

journal_title：Expert review of molecular diagnostics

authors： Sher M,Zhuang R,Demirci U,Asghar W

更新日期：2017-04-01 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：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：:In recent years, the real time-based TaqMan(®) technology has allowed the development of highly sensitive hepatitis viral load tests with broad dynamic ranges. The increasing applications of these tests in clinical diagnostics have shown the utility of viral load as a predictive marker of treatment response and proven...

journal_title：Expert review of molecular diagnostics

authors： Colucci G,Knobel R

更新日期：2011-11-01 00:00:00

abstract：:The generation of a draft sequence of a the human genome has provided the opportunity to characterize human diversity, even as it pertains to differences in host response to parasitic infection with organisms that cause lymphatic filariasis, malaria and schistosomiasis. Worldwide, human infection with filarial pathoge...

journal_title：Expert review of molecular diagnostics

authors： Choi EH,Nutman TB,Chanock SJ

更新日期：2003-05-01 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：:Recently, several chromosome banding techniques based on fluorescence in situ hybridization (FISH) have been developed for the human and the mouse genome. In contrast to the standard chromosome banding techniques presently used, giving a protein-related banding pattern, those FISH techniques are DNA-specific. Currentl...

journal_title：Expert review of molecular diagnostics

authors： Liehr T,Heller A,Starke H,Claussen U

更新日期：2002-05-01 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：: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：:Early diagnosis of Alzheimer's disease is important in initiating symptomatic treatment with acetylcholine esterase inhibitors, and will be of even greater significance if drugs with a potential to slow down the degenerative process, such as beta-secretase inhibitors and beta-amyloid vaccination, prove to have a clini...

journal_title：Expert review of molecular diagnostics

authors： Blennow K

更新日期：2005-09-01 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：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