(Q33813874)

29 July 2017

title

Rapid genetic analysis of x-linked chronic granulomatous disease by high-resolution melting (English)

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X-linked chronic granulomatous disease

29 July 2017

main subject

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author name string

Harry R Hill

1

1 reference

29 July 2017

Nancy H Augustine

2

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29 July 2017

Robert J Pryor

3

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29 July 2017

Gudrun H Reed

4

1 reference

29 July 2017

Joshua D Bagnato

5

1 reference

29 July 2017

Anne E Tebo

6

1 reference

29 July 2017

Jeffrey M Bender

7

1 reference

29 July 2017

Brian M Pasi

8

1 reference

29 July 2017

Javier Chinen

9

1 reference

29 July 2017

I Celine Hanson

10

1 reference

29 July 2017

Martin de Boer

11

1 reference

29 July 2017

Dirk Roos

12

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29 July 2017

Carl T Wittwer

13

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29 July 2017

publication date

12 March 2010

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The Journal of Molecular Diagnostics

29 July 2017

published in

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29 July 2017

volume

12

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29 July 2017

issue

3

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29 July 2017

page(s)

368-376

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High-resolution DNA melting analysis: advancements and limitations

29 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860474

High-resolution melting analysis (HRMA): more than just sequence variant screening.

4 July 2018

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Molecular characterization of a large cohort of patients with Chronic Granulomatous Disease and identification of novel CYBB mutations: an Italian multicenter study

4 July 2018

1 reference

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Chronic granulomatous disease: the European experience

4 July 2018

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Genetics and immunopathology of chronic granulomatous disease

4 July 2018

1 reference

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High resolution melting applications for clinical laboratory medicine

4 July 2018

1 reference

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Modern management of chronic granulomatous disease

4 July 2018

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High-resolution DNA melting analysis for simple and efficient molecular diagnostics

4 July 2018

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Use of DNA melting simulation software for in silico diagnostic assay design: targeting regions with complex melting curves and confirmation by real-time PCR using intercalating dyes

4 July 2018

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Amplicon DNA melting analysis for mutation scanning and genotyping: cross-platform comparison of instruments and dyes

4 July 2018

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A fatal granulomatous disease of childhood; the clinical, pathological, and laboratory features of a new syndrome.

4 July 2018

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High-resolution genotyping by amplicon melting analysis using LCGreen

4 July 2018

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Hematologically important mutations: X-linked chronic granulomatous disease (second update).

4 July 2018

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Clinical aspects of chronic granulomatous disease

4 July 2018

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Genetic, biochemical, and clinical features of chronic granulomatous disease.

4 July 2018

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Chronic granulomatous disease. Report on a national registry of 368 patients

4 July 2018

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Host defense molecule polymorphisms influence the risk for immune-mediated complications in chronic granulomatous disease

4 July 2018

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X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase.

4 July 2018

1 reference

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Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease.

4 July 2018

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Thermal denaturation of double-stranded nucleic acids: prediction of temperatures critical for gradient gel electrophoresis and polymerase chain reaction

4 July 2018

1 reference

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In vitro bactericidal capacity of human polymorphonuclear leukocytes: diminished activity in chronic granulomatous disease of childhood

4 July 2018

1 reference

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Recursion relation generation of probability profiles for specific-sequence macromolecules with long-range correlations.

4 July 2018

1 reference

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Chronic Granulomatous Disease Presenting in a 69-Year-Old Man

4 July 2018

1 reference

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Theory of DNA melting curves

4 July 2018

1 reference

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Characterisation of the enzyme defect in chronic granulomatous disease

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860474

Multiplex amplicon genotyping by high-resolution melting

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860474

Family clusters of variant X-linked chronic granulomatous disease.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860474

Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860474

Identifying sequence variants in the human mitochondrial genome using high-resolution melt (HRM) profiling.

30 October 2018

1 reference

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Mathematical algorithms for high-resolution DNA melting analysis.

30 October 2018

1 reference

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Focus on FOCIS: the continuing diagnostic challenge of autosomal recessive chronic granulomatous disease

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860474

Molecular epidemiology of chronic granulomatous disease in a series of 80 kindreds: identification of 31 novel mutations

30 October 2018

1 reference

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Mutations of chronic granulomatous disease in Turkish families.

30 October 2018

1 reference

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Sensitivity and specificity of single-nucleotide polymorphism scanning by high-resolution melting analysis.

30 October 2018

1 reference

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The LightTyper: high-throughput genotyping using fluorescent melting curve analysis.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860474

CYBB mutation analysis in X-linked chronic granulomatous disease

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860474

Flow cytometric measurement of the respiratory burst activity of phagocytes using dihydrorhodamine 123

30 October 2018

1 reference

12 December 2020

Chronic granulomatous disease with partial deficiency of cytochrome b558 and incomplete respiratory burst: variants of the X-linked, cytochrome b558-negative form of the disease

1 reference

12 December 2020

Limitations on the use of dihydrorhodamine 123 for flow cytometric analysis of the neutrophil respiratory burst

1 reference

12 December 2020

Molecular analysis of chronic granulomatous disease caused by defects in gp91-phox

1 reference

12 December 2020

Uncommon missense and splice mutations and resulting biochemical phenotypes in German patients with X-linked chronic granulomatous disease

1 reference

12 December 2020

Chronic granulomatous disease caused by mutations other than the common GT deletion in NCF1, the gene encoding the p47phox component of the phagocyte NADPH oxidase

1 reference

12 December 2020

Identifying common genetic variants by high-resolution melting

1 reference

12 December 2020

Streamlined assessment of gene variants by high resolution melt profiling utilizing the ornithine transcarbamylase gene as a model system

1 reference

12 December 2020

Scanning the cystic fibrosis transmembrane conductance regulator gene using high-resolution DNA melting analysis.

1 reference

12 December 2020

10.2353/JMOLDX.2010.090147

Identifiers

DOI

1 reference

29 July 2017

1 reference

29 July 2017

1 reference