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Genetic screening method

Known as: genetic screening test, genetic analysis, Genetic Testing 
Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease… 
National Institutes of Health

Related topics

Related topics

31 relations
Congenital defectsCytogenetic AnalysisDatabases, GeneticDatabases, Nucleic Acid

Narrower (3)

Genetic Marker ExpressionGenetic Screening (procedure)Testing, Genetic Predisposition

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2020
Highly Cited
2020
Pachydermoperiostosis
Description Pachydermoperiostosis is a rare developmental defect, first described by Friedreich in 1868 and recognized later in… 
Review
2008
Review
2008
Pre- and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives
Recently, a new genetic test has been developed that allows a more detailed examination of the genome when compared with a… 
Highly Cited
2006
Highly Cited
2006
Satisfaction with genetic counseling for BRCA1 and BRCA2 mutations among African American women.
Highly Cited
2001
Highly Cited
2001
Participation in Breast Cancer Genetic Counseling: The Influence of Educational Level, Ethnic Background, and Risk Perception
Genetic counseling has been suggested as a means of providing information and support to women with a family history of breast… 
Review
1999
Review
1999
Genetic testing and the clinical laboratory improvement amendments of 1988: present and future.
CLIA '88 superseded CLIA '67. CLIA '88 set standards designed to improve quality and expanded federal oversight to virtually all… 
Highly Cited
1997
Highly Cited
1997
Evaluation of the dexamethasone suppression test for the diagnosis of glucocorticoid-remediable aldosteronism.
Glucocorticoid-remediable aldosteronism (GRA) is a rare form of inherited hypertension caused by a characteristic gene… 
Highly Cited
1996
Highly Cited
1996
Genetic evaluation of candidate genes for the Mom1 modifier of intestinal neoplasia in mice.
As genetic mapping of quantitative trait loci (QTL) becomes routine, the challenge is to identify the underlying genes. This… 
Highly Cited
1992
Highly Cited
1992
Oligonucleotide geriotyping of HLA polymorphism on microtitre plates
Highly Cited
1980
Highly Cited
1980
Isolation of multiple classes of mutants of CHO cells resistant to cyclic AMP
From mutagenized Chinese hamster ovary (CHO) cells we have isolated, in a single step, 11 independent mutants resistant to the… 
Highly Cited
1975
Highly Cited
1975
Assembly of the mitochondrial membrane system. Cytoplasmic mutants of Saccharomyces cerevisiae with lesions in enzymes of the respiratory chain and in the mitochondrial ATPase.
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