نتایج جستجو برای: dhplc

تعداد نتایج: 390  

2013
Diogo Ribeiro Ana Cardoso Ana Joana Duarte Luis Vieira Olga Amaral

Objectives. Development of a simple mutation directed method in order to allow lowering the cost of mutation testing using an easily obtainable biological material. Assessment of the feasibility of such method was tested using a GC-rich amplicon. Design and Methods. A method of denaturing high-performance liquid chromatography (dHPLC) was improved and implemented as a technique for the detectio...

Journal: :The British journal of ophthalmology 2002
C J Cobb G Scott R J Swingler S Wilson J Ellis C J MacEwen W H I McLean

AIMS To rapidly screen Scottish patients with a family history of open angle glaucoma (OAG) or ocular hypertension (OHT) for mutations in the myocilin gene (MYOC) and develop a new rapid screening method for MYOC mutation detection. METHODS All three exons of the MYOC gene were amplified by PCR from genomic DNA and subjected to direct DNA sequencing. Mutation detection methodology was also de...

Journal: :BioTechniques 2003
P Couvert K Poirier A Carrié C Chalas P Jouannet C Beldjord T Bienvenu J Chelly A Kerjean

The bisulfite genomic sequencing method is one of the most widely used techniques for methylation analysis in heterogeneous unbiased PCR, amplifying for both methylated and unmethylated alleles simultaneously. However, it requires labor-intensive and time-consuming cloning and sequencing steps. In the current study, we used a denaturing high-performance liquid chromatography (DHPLC) procedure i...

Journal: :Clinical chemistry 2003
Giorgio Biasiotto Silvana Belloli Giuseppina Ruggeri Isabella Zanella Gianmario Gerardi Marcella Corrado Elena Gobbi Alberto Albertini Paolo Arosio

BACKGROUND Hereditary hemochromatosis is a recessive disorder characterized by iron accumulation in parenchymal cells, followed by organ damage and failure. The disorder is mainly attributable to the C282Y and H63D mutations in the HFE gene, but additional mutations in the HFE, transferrin receptor 2 (TfR2), and hepcidin genes have been reported. The copresence of mutations in different genes m...

2013
Yong Cui Dong Chang Mingliang Liu Changjin Lin Baojian Zhao Xu Zhang Min Gong

BACKGROUND Although epidermal growth factor receptor (EGFR) inhibitor treatment showed modest response in several clinical trials in esophageal squamous cell carcinoma (ESCC) patients, it has been reported that the frequency of EGFR mutations varied largely. The aim of this study was to investigate the existence of EGFR mutations in Chinese esophageal squamous cell carcinomas. METHODS Formali...

Journal: :Nucleic acids research 2000
B J van Den Bosch R F de Coo H R Scholte J G Nijland R van Den Bogaard M de Visser C E de Die-Smulders H J Smeets

In patients with mitochondrial disease a continuously increasing number of mitochondrial DNA (mtDNA) mutations and polymorphisms have been identified. Most pathogenic mtDNA mutations are heteroplasmic, resulting in heteroduplexes after PCR amplification of mtDNA. To detect these heteroduplexes, we used the technique of denaturing high performance liquid chromatography (DHPLC). The complete mito...

Journal: :Blood 2013
Irene Roberts Kate Alford Georgina Hall Gaetan Juban Helen Richmond Alice Norton Grant Vallance Kelly Perkins Emanuele Marchi Simon McGowan Anindita Roy Gillian Cowan Mark Anthony Amit Gupta John Ho Sabita Uthaya Anna Curley Shree Vishna Rasiah Timothy Watts Richard Nicholl Alison Bedford-Russell Raoul Blumberg Angela Thomas Brenda Gibson Chris Halsey Pek-Wan Lee Sunit Godambe Connor Sweeney Neha Bhatnagar Anne Goriely Peter Campbell Paresh Vyas

Transient abnormal myelopoiesis (TAM), a preleukemic disorder unique to neonates with Down syndrome (DS), may transform to childhood acute myeloid leukemia (ML-DS). Acquired GATA1 mutations are present in both TAM and ML-DS. Current definitions of TAM specify neither the percentage of blasts nor the role of GATA1 mutation analysis. To define TAM, we prospectively analyzed clinical findings, blo...

Journal: :Clinical Medicine & Research 2003

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