(Q28262616)

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.20412

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

21 January 2018

1 reference

12 December 2020

DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia

1 reference

12 December 2020

Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies)

1 reference

12 December 2020

WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia

1 reference

12 December 2020

Tracking the evolution of the SARS coronavirus using high-throughput, high-density resequencing arrays

1 reference

12 December 2020

Comparisons of substitution, insertion and deletion probes for resequencing and mutational analysis using oligonucleotide microarrays

1 reference

12 December 2020

Pyrosequencing sheds light on DNA sequencing

1 reference

12 December 2020

From gels to chips: "minisequencing" primer extension for analysis of point mutations and single nucleotide polymorphisms

1 reference

12 December 2020

Pyrosequencing: history, biochemistry and future

1 reference

12 December 2020

A PCR artifact: generation of heteroduplexes

1 reference

12 December 2020

Diagnostic paradigm for evaluation of male patients with chronic granulomatous disease, based on the dihydrorhodamine 123 assay

1 reference

12 December 2020

Deficiency of p67phox, p47phox or gp91phox in chronic granulomatous disease does not impair leucocyte chemotaxis or motility.

1 reference

12 December 2020

Design and synthesis of a 3'-O-allyl photocleavable fluorescent nucleotide as a reversible terminator for DNA sequencing by synthesis

1 reference

12 December 2020

2. Update on primary immunodeficiency diseases

1 reference

12 December 2020

Two buffer PAGE system-based SSCP/HD analysis: a general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease

1 reference

12 December 2020

Microarray-based resequencing of multiple Bacillus anthracis isolates

1 reference

12 December 2020

Preferential Th1 profile of T helper cell responses in X-linked (Bruton's) agammaglobulinemia

1 reference

12 December 2020

Single-strand conformation polymorphism analysis with high throughput modifications, and its use in mutation detection in familial hypercholesterolemia. International Federation of Clinical Chemistry Scientific Division: Committee on Molecular Biolo

1 reference

12 December 2020

The SNPlex genotyping system: a flexible and scalable platform for SNP genotyping

1 reference

12 December 2020

Analysis of the p53 tumor suppressor gene by pyrosequencing

1 reference

12 December 2020

Genetic screening methods for the detection of mutations responsible for multiple endocrine neoplasia type 1.

1 reference

12 December 2020

Primary immunodeficiency or not? Making the correct diagnosis

1 reference

12 December 2020

Bi-directional dideoxy fingerprinting (Bi-ddF): a rapid method for quantitative detection of mutations in genomic regions of 300-600 bp

1 reference

12 December 2020

Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes

1 reference

12 December 2020

Acute lymphoblastic leukemia in a patient with chronic granulomatous disease and a novel mutation in CYBB: first report

1 reference

12 December 2020

Detection of three single nucleotide polymorphisms in the gene encoding mannose-binding lectin in a single pyrosequencing reaction

1 reference

12 December 2020

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

1 reference

12 December 2020

SSCP is not so difficult: the application and utility of single-stranded conformation polymorphism in evolutionary biology and molecular ecology

1 reference

12 December 2020

Identification of APC gene mutations in colorectal cancer using universal microarray-based combinatorial sequencing-by-hybridization.

1 reference

12 December 2020

Nonradioactive single-strand conformation polymorphism analysis with application for mutation detection in a mixed population of cells

1 reference

12 December 2020

DiGeorge syndrome: part of CATCH 22.

1 reference

12 December 2020

Single-strand conformation polymorphism and heteroduplex analysis for gel-based mutation detection

1 reference

12 December 2020

Two-exon skipping due to a point mutation in p67-phox--deficient chronic granulomatous disease

1 reference

12 December 2020

Immunodeficiency mutation databases (IDbases).

1 reference

12 December 2020

Current applications of flow cytometry in the diagnosis of primary immunodeficiency diseases

1 reference

12 December 2020

Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location

1 reference

12 December 2020

A transforming MET mutation discovered in non-small cell lung cancer using microarray-based resequencing

1 reference

12 December 2020

Comparison of heteroduplex and single-strand conformation analyses, followed by ethidium fluorescence visualization, for the detection of mutations in four human genes

1 reference

12 December 2020

Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays

1 reference

12 December 2020

Detecting familial defective apolipoprotein B-100: three molecular scanning methods compared

1 reference

12 December 2020

New developments in high-throughput resequencing and variation detection using high density microarrays

1 reference

12 December 2020

Long-range polony haplotyping of individual human chromosome molecules

1 reference

12 December 2020

Blind Analysis of Denaturing High-Performance Liquid Chromatography as a Tool for Mutation Detection

1 reference

12 December 2020

Photocleavage of a 2-nitrobenzyl linker bridging a fluorophore to the 5' end of DNA

1 reference

12 December 2020

Accessing genetic information with high-density DNA arrays.

1 reference

12 December 2020

Wiskott-Aldrich syndrome in two sisters

1 reference

12 December 2020

Methods for detection of point mutations: performance and quality assessment. IFCC Scientific Division, Committee on Molecular Biology Techniques.

1 reference

12 December 2020

Mutational analysis by a combined application of the multiple restriction fragment-single strand conformation polymorphism and the direct linear amplification DNA sequencing protocols

1 reference

12 December 2020

Germline mutations of the MEN1 gene in Korean families with multiple endocrine neoplasia type 1 (MEN1) or MEN1-related disorders

1 reference

12 December 2020

Genome sequencing in microfabricated high-density picolitre reactors

1 reference

12 December 2020

A photocleavable fluorescent nucleotide for DNA sequencing and analysis

1 reference

12 December 2020

Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platform

1 reference

12 December 2020

Denaturing high-performance liquid chromatography: A review

1 reference

12 December 2020

The Sequence of the Human Genome

1 reference

12 December 2020

MEN1 gene mutation analysis in Italian patients with multiple endocrine neoplasia type 1

1 reference

12 December 2020

How sensitive is PCR-SSCP?

1 reference

12 December 2020

DNA sequencing with chain-terminating inhibitors

1 reference

12 December 2020

The Sensitivity of Single-Strand Conformation Polymorphism Analysis for the Detection of Single Base Substitutions

1 reference

12 December 2020

A variant X-linked chronic granulomatous disease patient (X91+) with partially functional cytochrome b

1 reference

12 December 2020

Comparison of fluorescent SSCP and denaturing HPLC analysis with direct sequencing for mutation screening in hypertrophic cardiomyopathy

1 reference

12 December 2020

Combinatorial Sequencing-by-Hybridization: Analysis of the NF1 Gene

1 reference

12 December 2020

Initial sequencing and analysis of the human genome

1 reference

12 December 2020

An enzyme-linked immunosorbent assay for the quantitation of human IgG subclasses using monoclonal antibodies

1 reference

12 December 2020

DNA sequence determination by hybridization: a strategy for efficient large-scale sequencing

1 reference

12 December 2020

Applications of DNA tiling arrays for whole-genome analysis

1 reference

12 December 2020

Human Gene Mutation Database (HGMD): 2003 update

1 reference

12 December 2020

Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest, 2005

1 reference

12 December 2020

Mannose-binding lectin: structure, function, genetics and disease associations.

1 reference

12 December 2020

Use of a DNA toolbox for the characterization of mutation scanning methods. I: construction of the toolbox and evaluation of heteroduplex analysis

1 reference

12 December 2020

An update on conformation sensitive gel electrophoresis

1 reference

12 December 2020

Accurate multiplex polony sequencing of an evolved bacterial genome

1 reference

12 December 2020

High-resolution liquid chromatography of DNA fragments on non-porous poly(styrene-divinylbenzene) particles

1 reference

12 December 2020

Real-time DNA sequencing using detection of pyrophosphate release

1 reference

12 December 2020

Mutation detection by pyrosequencing: sequencing of exons 5-8 of the p53 tumor suppressor gene

1 reference

12 December 2020

Mutations in btk in patients with presumed X-linked agammaglobulinemia

1 reference

12 December 2020

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

12 December 2020

An analysis on gene architecture in human and mouse genomes.

1 reference

12 December 2020

Canine hereditary ceroid-lipofuscinosis: evidence for a defect in the carnitine biosynthetic pathway

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.20412

7 January 2021