The human genome project and the future of diagnostics, treatment, and prevention (Q33705845)

28 July 2017

title

The human genome project and the future of diagnostics, treatment, and prevention (English)

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28 July 2017

G J van Ommen

1

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28 July 2017

E Bakker

series ordinal

2

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28 July 2017

J T den Dunnen

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3

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28 July 2017

publication date

1 July 1999

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28 July 2017

language of work or name

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28 July 2017

volume

354 Suppl 1

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28 July 2017

page(s)

SI5-10

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publication type of scholarly work

28 July 2017

review article

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Molecular genotyping shows that ataxia-telangiectasia heterozygotes are predisposed to breast cancer

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Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease

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The human gene mutation database

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Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease

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Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium

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Mutations predisposing to hereditary nonpolyposis colorectal cancer: Database and results of a collaborative study. The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer

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Clinical Findings with Implications for Genetic Testing in Families with Clustering of Colorectal Cancer

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New possibilities for prenatal diagnosis of muscular dystrophies: forced myogenesis with an adenoviral MyoD-vector

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Silent mutations in the phenylalanine hydroxylase gene as an aid to the diagnosis of phenylketonuria

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An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection

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BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients

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Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

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Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and southern analysis

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A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27.

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Predicting adaptation to presymptomatic DNA testing for late onset disorders: who will experience distress? Rotterdam Leiden Genetics Workgroup

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Ethics of predictive DNA-testing for hereditary breast and ovarian cancer

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Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

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Rapid design of denaturing gradient-based two-dimensional electrophoretic gene mutational scanning tests

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Detecting single base substitutions as heteroduplex polymorphisms

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Reactivity of potassium permanganate and tetraethylammonium chloride with mismatched bases and a simple mutation detection protocol

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Detection of 81 of 81 known mouse beta-globin promoter mutations with T4 endonuclease VII--the EMC method

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Protein truncation test (PTT) for rapid detection of translation-terminating mutations

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7 January 2021

A perfect message: RNA surveillance and nonsense-mediated decay

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High-throughput DNA analysis by time-of-flight mass spectrometry

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High density synthetic oligonucleotide arrays

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Resequencing and mutational analysis using oligonucleotide microarrays

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Detection of heterozygous mutations in BRCA1 using high density oligonucleotide arrays and two-colour fluorescence analysis

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Analysis of enzymatically amplified β-globin and HLA-DQα DNA with allele-specific oligonucleotide probes

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A Ligase-Mediated Gene Detection Technique

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Padlock probes reveal single-nucleotide differences, parent of origin and in situ distribution of centromeric sequences in human chromosomes 13 and 21

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Mutation detection and single-molecule counting using isothermal rolling-circle amplification

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7 January 2021

Minisequencing: a specific tool for DNA analysis and diagnostics on oligonucleotide arrays.

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

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7 January 2021

Real time quantitative PCR

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7 January 2021

Multicolor molecular beacons for allele discrimination

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Conversion of Xenopus ectoderm into neurons by NeuroD, a basic helix-loop-helix protein

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7 January 2021

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Identifiers

DOI

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