(Q33705845)

28 July 2017

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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

series ordinal

3

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28 July 2017

language of work or name

English

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publication date

1 July 1999

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28 July 2017

1 reference

28 July 2017

354 Suppl 1

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28 July 2017

SI5-10

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

28 July 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2990241-6

7 January 2021

Genetic heterogeneity of apolipoprotein E and its influence on plasma lipid and lipoprotein levels

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2990241-6

7 January 2021

Nutritional benefits of neonatal screening for cystic fibrosis. Wisconsin Cystic Fibrosis Neonatal Screening Study Group

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2990241-6

7 January 2021

Prevalence of fragile X syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2990241-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2990241-6

7 January 2021

The human gene mutation database

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2990241-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2990241-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2990241-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2990241-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2990241-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2990241-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2990241-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2990241-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2990241-6

7 January 2021

Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2990241-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2990241-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2990241-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2990241-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2990241-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2990241-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2990241-6

7 January 2021

Detecting single base substitutions as heteroduplex polymorphisms

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2990241-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2990241-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2990241-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2990241-6

7 January 2021

A perfect message: RNA surveillance and nonsense-mediated decay

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2990241-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2990241-6

7 January 2021

High density synthetic oligonucleotide arrays

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2990241-6

7 January 2021

Resequencing and mutational analysis using oligonucleotide microarrays

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2990241-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2990241-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2990241-6

7 January 2021

A Ligase-Mediated Gene Detection Technique

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2990241-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2990241-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2990241-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2990241-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2990241-6

7 January 2021

Real time quantitative PCR

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2990241-6

7 January 2021

Multicolor molecular beacons for allele discrimination

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2990241-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2990241-6

7 January 2021

10.1016/S0140-6736(99)90241-6

Identifiers

DOI

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1 reference