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 the molecular basis of hereditary hearing loss through DNA testing. Future molecular diagnostic assays are expected to offer a greater variety of gene-specific tests, as well as combined mutation panels, which will aid in the management of the impressive genetic heterogeneity observed in hereditary hearing loss, especially in individuals with nonsyndromic forms. This review addresses the genetics of hearing loss, discusses the most commonly offered genetic assays for nonsyndromic hearing loss, with advantages and limitations, proposes a practical testing algorithm, and highlights current developments.
journal_name
Expert Rev Mol Diagnjournal_title
Expert review of molecular diagnosticsauthors
Schrijver I,Gardner Pdoi
10.1586/14737159.6.3.375subject
Has Abstractpub_date
2006-05-01 00:00:00pages
375-86issue
3eissn
1473-7159issn
1744-8352journal_volume
6pub_type
杂志文章,评审abstract:INTRODUCTION:Prostate cancer (PCa) is a common cancer in men, but variable clinical behaviors make its management challenging. Risk stratification is a key issue in disease management. Patient-tailored strategies are strongly advocated to reduce unnecessary treatment while maximizing the oncological outcomes of patient...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1080/14737159.2017.1302332
更新日期:2017-04-01 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
pub_type: 杂志文章,评审
doi:10.1586/erm.09.64
更新日期:2009-11-01 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
pub_type: 杂志文章
doi:
更新日期:2001-11-01 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
pub_type: 评论,杂志文章
doi:10.1586/erm.11.39
更新日期:2011-07-01 00:00:00
abstract::Biomarkers complement clinical assessment, electrocardiogram and cardiac imaging in the diagnosis, risk stratification, triage and management of patients with suspected acute cardiovascular diseases. While there is broad consensus that cardiac troponin is the preferred biomarker in clinical practice for the detection ...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.2015.1010519
更新日期:2015-04-01 00:00:00
abstract::There is great interest in the development of noninvasive methods for imaging angiogenic responses. Strategies for assessing angiogenesis have primarily relied on measuring perfusion-related characteristics, such as total blood flow or microvascular volume, or detecting abnormal vascular permeability. Techniques are n...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.5.3.447
更新日期:2005-05-01 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
pub_type: 历史文章,杂志文章
doi:10.1586/14737159.5.3.315
更新日期:2005-05-01 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
pub_type: 杂志文章
doi:10.1080/14737159.2020.1816465
更新日期:2020-09-01 00:00:00
abstract::Reverse-transcription PCR (RT-PCR) coupled with electrospray ionization mass spectrometry (ESI-MS) is a high-throughput nucleic acid-based technology that relies on the accurate measurement of the molecular weight of PCR amplicons that can be used to deduce the base counts (number of As, Gs, Cs and Ts) of DNA. These a...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/erm.10.107
更新日期:2011-01-01 00:00:00
abstract::The Presage(®) ST2 Assay (Critical Diagnostics, CA, USA) is an in vitro diagnostic device that quantitatively measures soluble suppression of tumorigenicity 2 (sST2) in serum and plasma by ELISA. This assay is US FDA approved and is indicated to be used in conjunction with clinical evaluation as an aid in assessing th...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/erm.12.128
更新日期:2013-01-01 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
pub_type: 杂志文章,评审
doi:10.1586/14737159.9.2.165
更新日期:2009-03-01 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
pub_type: 杂志文章,评审
doi:10.1586/14737159.7.5.647
更新日期:2007-09-01 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
pub_type: 杂志文章,评审
doi:10.1586/14737159.4.4.527
更新日期:2004-07-01 00:00:00
abstract::Background: Higher liver caspase-3 activity has been found in patients with different liver diseases. However, there is no published data about circulating caspase-3 levels in patients with hepatocellular carcinoma (HCC) who underwent liver transplantation (LT). Therefore, our objective in this study was to determine ...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章
doi:10.1080/14737159.2019.1619549
更新日期:2019-07-01 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
pub_type: 杂志文章,评审
doi:10.1586/14737159.2.1.32
更新日期:2002-01-01 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
pub_type: 杂志文章,评审
doi:10.1586/14737159.9.1.75
更新日期:2009-01-01 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
pub_type: 杂志文章,评审
doi:10.1080/14737159.2018.1415145
更新日期:2018-01-01 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
pub_type: 杂志文章
doi:10.1080/14737159.2020.1724785
更新日期:2020-03-01 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
pub_type: 杂志文章,评审
doi:10.1080/14737159.2017.1321987
更新日期:2017-06-01 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
pub_type: 杂志文章,评审
doi:10.1586/erm.10.123
更新日期:2011-04-01 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
pub_type: 杂志文章
doi:10.1586/14737159.1.3.255
更新日期:2001-09-01 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
pub_type: 杂志文章,评审
doi:10.1586/14737159.6.5.767
更新日期:2006-09-01 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
pub_type: 杂志文章,评审
doi:10.1586/14737159.2.6.531
更新日期:2002-11-01 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
pub_type: 杂志文章,评审
doi:10.1586/erm.11.82
更新日期:2012-01-01 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
pub_type: 杂志文章,评审
doi:10.1586/14737159.3.5.597
更新日期:2003-09-01 00:00:00
abstract::Despite numerous technical hurdles, the realization of true personalized medicine is becoming a progressive reality for the future of patient care. With the development of new techniques and tools to measure the genetic signature of tumors, biomarkers are increasingly being used to detect occult tumors, determine the ...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.2014.943665
更新日期:2014-09-01 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
pub_type: 杂志文章,评审
doi:10.1586/erm.10.63
更新日期:2010-09-01 00:00:00
abstract::Malignant melanoma is one of the most aggressive cancers. Several new therapeutic strategies that focus on immuno- and/or targeted therapy have been developed, which have entered clinical trials or already been approved. This review provides an update on prognostic and predictive biomarkers in melanoma that may be use...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.2016.1126511
更新日期:2016-01-01 00:00:00
abstract::This review focuses on the fluorescent protein microarrays applied to neurodegenerative disorders, a major health problem in our aging society. Biomarker discovery studies and work on new diagnostic tests are both included. Three platforms are described: antibody planar microarrays, comprising an array of well-defined...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.2013.849574
更新日期:2013-11-01 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
pub_type: 面试
doi:10.1586/14737159.2015.1033603
更新日期:2015-05-01 00:00:00