Triplet-primed PCR is more sensitive than southern blotting-long PCR for the diagnosis of myotonic dystrophy type1.

abstract：: Aims: Aryl hydrocarbon receptor-interacting protein (AIP) gene mutations have long been associated with apparently sporadic pituitary adenomas (PAs) with a prevalence range of 0-12%. The aim of this study was to evaluate the frequency of germline AIP variations in a large ...

journal_title：Genetic testing and molecular biomarkers

authors： Tuncer FN,Çiftçi Doğanşen S,Serbest E,Tanrıkulu S,Ekici Y,Bilgiç B,Yarman S

更新日期：2018-12-01 00:00:00

abstract：AIM:This study was carried out to evaluate the association of genetic polymorphism -670A>G in the promoter of Fas gene as well as serum biomarkers aspartate aminotransferase (AST) platelet ratio index (APRI) and AST/alanine aminotransferase (ALT) with significant fibrosis and cirrhosis in chronic hepatitis C patients. ...

journal_title：Genetic testing and molecular biomarkers

authors： Deghady A,Abdou A,El-Neanaey WA,Diab I

更新日期：2012-06-01 00:00:00

abstract：:Sarcoidosis is a complex disease with autoimmune basis and still unknown etiology. We have screened for mutations in the cystic fibrosis conductance regulator (CFTR) gene and genotyped single-nucleotide polymorphisms in the tumor necrosis factor (TNF), interferon alpha-10 (IFNA10), IFNA17, and interferon gamma (IFNG) ...

journal_title：Genetic testing and molecular biomarkers

authors： Makrythanasis P,Tzetis M,Rapti A,Papatheodorou A,Tsipi M,Kitsiou S,Tsiamouri A,Poulou M,Roussos C,Kanavakis E

更新日期：2010-08-01 00:00:00

abstract：:The aim of the study was to determine (1) the frequency and type of mutations in the coding region of the GJB2 gene (sequencing), (2) the frequency of splice site mutation IVS1 + 1G > A in the GJB2 gene (multiplex ligation-dependent probe amplification analysis), (3) possible copy number changes in the GJB2, GJB3, GJB...

journal_title：Genetic testing and molecular biomarkers

authors： Sansović I,Knezević J,Musani V,Seeman P,Barisić I,Pavelić J

更新日期：2009-10-01 00:00:00

abstract：: Aims: The selenoprotein S (SELS) gene has been suggested to be an important factor in the development of multiple diseases, including gastric cancer (GC) and colorectal cancer (CRC). However, the association between the SELS gene rs34713741 polymorphism and risk of GC and ...

journal_title：Genetic testing and molecular biomarkers

authors： Li J,Zhu Y,Zhou Y,Jiang H,Chen Z,Lu B,Shen X

更新日期：2020-12-01 00:00:00

abstract：AIMS:Surviving under a stressful environment may be a real challenge. Individuals (and their offspring) with accumulated genetic variation in their DNA repair genes may have a higher probability to survive under these conditions. A partially unstable DNA repair system raises the mutagenesis rate and the probability for...

journal_title：Genetic testing and molecular biomarkers

authors： Voskarides K

更新日期：2014-08-01 00:00:00

abstract：:Despite the knowledge of many genetic alterations present in ovarian cancer, the complexity of this disease precludes placing its biology into a simple conceptual framework. Lysyl oxidase (LOX) is an extracellular matrix enzyme that catalyzes the cross-linking of collagens or elastin in the extracellular compartment. ...

journal_title：Genetic testing and molecular biomarkers

authors： Wu J,Cai C,Tong D,Hou H

更新日期：2012-08-01 00:00:00

abstract：: Objective: Pancreatic cancer (PC) is a serious disease with poor outcomes, and its prevalence has been increasing steadily. The circadian rhythm (CR) is involved in multiple physiological events and maintains homeostasis. Alterations in the CR elevate the risk of developin...

journal_title：Genetic testing and molecular biomarkers

authors： Dagmura H,Yiğit S,Nursal AF,Duman E,Gumusay O

更新日期：2020-12-29 00:00:00

abstract：BACKGROUND:Next-Generation Sequencing (NGS) is the latest approach for preimplantation genetic diagnoses (PGD). AIM:The purpose of this study was to standardize and validate an NGS method for comprehensive chromosome screening and to investigate its applicability to PGD. METHODS:Embryo biopsy, whole-genome amplificat...

journal_title：Genetic testing and molecular biomarkers

authors： Sachdeva K,Discutido R,Albuz F,Almekosh R,Peramo B

更新日期：2017-11-01 00:00:00

abstract：OBJECTIVE:To explore the relationship between the endothelial lipase (EL) gene promoter -384A/C polymorphism and acute coronary syndrome (ACS) and lipid status in elderly Uygur patients in Xinjiang. METHODS:The polymerase chain reaction-restriction fragment length polymorphism method was used to detect the EL gene pro...

journal_title：Genetic testing and molecular biomarkers

authors： Huang D,Xie X,Ma YT,Huang Y,Ma X

更新日期：2014-11-01 00:00:00

abstract：: Background and Purpose: Mucopolysaccharidosis 1 (MPS1) is an autosomal recessive disorder of a lysosomal enzyme called alpha-l-iduronidase caused by mutations in the IDUA gene. This enzyme is responsible for the degradation of the mucopolysaccharides, heparan sulfate, and ...

journal_title：Genetic testing and molecular biomarkers

authors： Kamranjam M,Alaei M

更新日期：2019-08-01 00:00:00

abstract：:Hereditary hemochromatosis is an inherited disorder of iron metabolism, characterized by high absorption of iron by the gastrointestinal tract leading to a toxic accumulation of iron in various organs and impaired organ function. Three variants in the HFE gene (p.C282Y, p.H63D, and p.S65C) are commonly associated with...

journal_title：Genetic testing and molecular biomarkers

authors： Sumner K,Hubley L,Pont-Kingdon G,Mitchell S,Wayman T,Wilson A,Meadows C,Elenitoba-Johnson K,Pattison D,Dobrowolski S,Best H,Lyon E

更新日期：2012-07-01 00:00:00

abstract：: Aims: Split-hand/split-foot malformation (SHFM) is a developmental and congenital limb malformation characterized by variable degrees of medial clefting or absence of one or more digits in hands and/or feet. The aim of this study was to identify the underlying cause of thr...

journal_title：Genetic testing and molecular biomarkers

authors： Bilal M,Hayat A,Umair M,Ullah A,Khawaja S,Malik E,Burmeister M,Bibi N,Umm-E-Kalsoom,Memon MI,Basit S,Ahmad W,Khan B

更新日期：2020-09-01 00:00:00

abstract：BACKGROUND:Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal-dominant inherited disease. This study was carried out to investigate the genetic and functional changes within the FOXL2 gene in two Chinese families with BPES. MATERIALS AND METHODS:DNA was extracted from the peripheral blood ...

journal_title：Genetic testing and molecular biomarkers

authors： Li H,Gu Y

更新日期：2018-10-01 00:00:00

abstract：AIM:To investigate the association between high myopia (HM) and single nucleotide polymorphisms (SNPs) in the myocilin (MYOC), hepatocyte growth factor (HGF), hepatocyte growth factor receptor (MET), and aggrecan (ACAN) genes in a Han Chinese population. METHODS:Sixteen SNPs were genotyped by the SNaPshot method in a ...

journal_title：Genetic testing and molecular biomarkers

authors： Yang X,Liu X,Peng J,Zheng H,Lu F,Gong B,Zhao G,Meng Y,Guan H,Ning M,Yang Z,Shi Y

更新日期：2014-06-01 00:00:00

abstract：:To evaluate the associations between four single-nucleotide polymorphisms (SNPs) in CYP4A11 and CYP4F2 and ischemic stroke (IS), and between these variants and atherothrombotic events after stroke. IS patients (n=396) and controls (n=378) were genotyped for two CYP4A11 SNPs (rs2269231 and rs9333025) and two CYP4F2 SNP...

journal_title：Genetic testing and molecular biomarkers

authors： Zhang B,Yi X,Wang C,Liao D,Lin J,Chi L

更新日期：2015-05-01 00:00:00

abstract：:The association between excision repair cross complementing group 2 (ERCC2) Asp312Asn polymorphism and lung cancer has been reported by many articles recently, but the results were controversial and inconclusive. Therefore, a meta-analysis was conducted to assess the relationship between them. Pooled odds ratios (ORs)...

journal_title：Genetic testing and molecular biomarkers

authors： Tan X,Wang Y,Shi L,Xian L,Guo J,Liang G,Chen M

更新日期：2014-01-01 00:00:00

abstract：: Aims: The aim of this study was to summarize the currently available evidence on the associations between the IL-10-1082G/A, IL-10-592A/C, and IL-10-819G/A polymorphisms and susceptibility to atopic dermatitis (AD). Materials and Methods: ...

journal_title：Genetic testing and molecular biomarkers

authors： Zhao J,Chen ZY,Li LF

更新日期：2019-05-01 00:00:00

abstract：BACKGROUND AND AIMS:Published data on the associations between interleukin-4 receptor (IL-4R) gene polymorphisms (Q551R, I50V) and rheumatoid arthritis (RA) risk are controversial. To quantitatively evaluate the relationships, a meta-analysis was performed. METHODS:Studies were identified from the databases of PubMed,...

journal_title：Genetic testing and molecular biomarkers

authors： Peng H,Wang W,Zhou M,Liu CY,Li R,Wen PF,Qiu LJ,Pan HF,Ye DQ

更新日期：2013-10-01 00:00:00

abstract：BACKGROUND:Several published articles investigated the relationship between a polymorphism -148C>T in the β-fibrinogen gene (FGB) and risk of ischemic stroke, and did not reach the same conclusion. To shed light on these inconclusive findings, we performed a meta-analysis of studies relating the FGB genetic polymorphis...

journal_title：Genetic testing and molecular biomarkers

authors： Zhang LJ,Li HH,Tao SB,Yuan B,Yan HQ,Chang L,Zhao JH

更新日期：2014-06-01 00:00:00

abstract：OBJECTIVES:Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome, rheumatoid arthritis (RA), ankylosing spondylitis (AS), and seronegative spondyloarthropathy (SPA) are autoimmune diseases of unknown etiology, which share some clinical manifestations in common. Previous family-based investigations su...

journal_title：Genetic testing and molecular biomarkers

authors： Li N,Ma J,Li K,Guo C,Ming L

更新日期：2017-02-01 00:00:00

abstract：BACKGROUND:Cystic fibrosis (CF) is the most common inherited disorder in Caucasian populations, with more than 1400 cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations. The type of mutations and their distributions varies widely between different countries and/or ethnic groups. METHODS:We charact...

journal_title：Genetic testing and molecular biomarkers

authors： Sachdeva K,Saxena R,Puri R,Bijarnia S,Kohli S,Verma IC

更新日期：2012-07-01 00:00:00

abstract：BACKGROUND AND OBJECTIVE:Essential hypertension (EH) is a complex phenotype that is affected by multiple genetic and environmental factors. Some authors have explored the role of genetic variability of the glutathione S-transferase (GST) enzymes in EH risk with contrasting results. In particular, our previous study inv...

journal_title：Genetic testing and molecular biomarkers

authors： Polimanti R,Piacentini S,Lazzarin N,Re MA,Manfellotto D,Fuciarelli M

更新日期：2012-06-01 00:00:00

abstract：PURPOSE:This study was undertaken to describe cancer risk assessment practices among primary care providers (PCPs). METHODS:An electronic survey was sent to PCPs affiliated with a single insurance carrier. Demographic and practice characteristics associated with cancer genetic risk assessment and testing activities we...

journal_title：Genetic testing and molecular biomarkers

authors： Vig HS,Armstrong J,Egleston BL,Mazar C,Toscano M,Bradbury AR,Daly MB,Meropol NJ

更新日期：2009-12-01 00:00:00

abstract：:By virtue of the functional role of the mitochondrion in energy and reactive oxygen species production, mutations in mitochondrial DNA (mtDNA) are potential candidates for cardiovascular-related disorders. Further, the mtDNA is extremely polymorphic and several diagnostic single-nucleotide polymorphisms have been used...

journal_title：Genetic testing and molecular biomarkers

authors： Abu-Amero KK,Al-Boudari OM,Mousa A,Gonzalez AM,Larruga JM,Cabrera VM,Dzimiri N

更新日期：2010-02-01 00:00:00

abstract：AIMS:Genetic testing has become a routine part of prenatal care, the test being offered according to ethnic origin. However, not all clients take the offered tests while others take unnecessary tests. The present study aimed at examining the effects of risk perception, hypochondria, trait anxiety, and attitudes to gene...

journal_title：Genetic testing and molecular biomarkers

authors： Barnoy S,Zelikaman L,Bar-Tal Y

更新日期：2009-08-01 00:00:00

abstract：:Two polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene, C677T and A1298C, were hypothesized to decrease the risk of acute lymphoblastic leukemia (ALL). Studies examining the associations between these two polymorphisms and ALL susceptibility drew inconsistent results. To obtain a reliable conclusion...

journal_title：Genetic testing and molecular biomarkers

authors： Wang H,Meng L,Zhao L,Wang J,Liu X,Mi W

更新日期：2012-12-01 00:00:00

abstract：:High-resolution melting (HRM) of DNA is a versatile method for mutation scanning that monitors the fluorescence of double-strand DNA with saturating dye. Performing HRM on a real-time thermocycler enables semiquantitative analysis (quantitative polymerase chain reaction, qPCR) to be associated to HRM analysis for dete...

journal_title：Genetic testing and molecular biomarkers

authors： Coulet F,Pires F,Rouleau E,Lefol C,Martin S,Colas C,Cohen-Haguenauer O,Giurgea I,Fajac A,Noguès C,Demange L,Hardouin A,Lidereau R,Soubrier F

更新日期：2010-10-01 00:00:00

abstract：AIMS:Poly (ADP-ribose) polymerase-1 (PARP-1) plays an important role in the repair of damaged DNA and has prognostic significance in a variety of human malignancies. However, little is known about its expression levels and clinical implication in patients with acute myeloid leukemia (AML). MATERIALS AND METHODS:Quanti...

journal_title：Genetic testing and molecular biomarkers

authors： Pashaiefar H,Yaghmaie M,Tavakkoly-Bazzaz J,Ghaffari SH,Alimoghaddam K,Momeny M,Izadi P,Izadifard M,Kasaeian A,Ghavamzadeh A

更新日期：2018-06-01 00:00:00

abstract：AIMS:The purpose of the study was to develop a new assay for genotyping nine single nucleotide polymorphisms (SNPs) that are known to be associated with melanoma. METHODS:Two-stage single tube polymerase chain reaction (PCR) followed by hybridization on a biochip was developed and applied in the study. RESULTS:A tota...

journal_title：Genetic testing and molecular biomarkers

authors： Fesenko DO,Chudinov AV,Surzhikov SA,Zasedatelev AS

更新日期：2016-04-01 00:00:00