ReviewHuman genetics1989
Diagnosis of genetic disease using recombinant DNA. Second edition.
Review in Human genetics, 1989. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
12 citing papers in PubMed.
- Addressing the Challenges of Solid-State Nanopores: Strategies for Performance Enhancement.International journal of molecular sciences · 2026Review
- Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for Molecular Pathology.The Journal of molecular diagnostics : JMD · 2012Article
- Copy-choice illegitimate DNA recombination revisited.The EMBO journal · 1994Article
- Diagnosis of human genetic disease using recombinant DNA. Fourth edition.Human genetics · 1993Review
- Formation of large deletions by illegitimate recombination in the HPRT gene of primary human fibroblasts.Proceedings of the National Academy of Sciences of the United States of America · 1993Article
- A mechanism for deletion formation in DNA by human cell extracts: the involvement of short sequence repeats.Nucleic acids research · 1992Article
- Diagnosis of genetic disease using recombinant DNA. Third edition.Human genetics · 1991Review
- Mechanisms of insertional mutagenesis in human genes causing genetic disease.Human genetics · 1991Article
- Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment.Human genetics · 1991Article
- The molecular genetic analysis of haemophilia A; characterization of six partial deletions in the factor VIII gene.Human genetics · 1990Article
- Detection of a novel point mutation causing haemophilia A by PCR/direct sequencing of ectopically-transcribed factor VIII mRNA.Human genetics · 1990Article
- The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions.Human genetics · 1990Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recombinant DNA methodology has greatly increased our knowledge of the molecular pathology of the human genome at the same time as providing the means to diagnose inherited disease at the DNA level. Direct detection and analysis of a range of genetic defects are now possible using cloned gene or oligonucleotide probes or by direct sequencing of the disease gene(s). In addition, the use of restriction fragment length polymorphism (RFLPs) within and around these genes as indirect genetic markers has now potentiated the tracking of disease alleles in affected pedigrees in cases where direct analysis was not feasible. RFLPs associated with linked anonymous segments may also be used not only to diagnose hitherto undetectable disease states, but also for chromosomal localization of the loci responsible. We present here an up-to date list of reports describing both the direct and the indirect analysis/diagnosis of human inherited disease, which is intended to serve as a guide to current molecular genetic approaches in diagnostic medicine.
Indexed as
Identifiers
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.