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mutation analysis

Known as: targeted mutation analysis 
Germline genetic testing method targeted to detect a specific mutation (such as a deleterious MSH2 mutation previously identified in a family), panel… 
National Institutes of Health

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APC Gene Mut Anal Bld/TCCR5 gene targeted mutation analysis:Prid:Pt:Bld:Nom:MolgenCYP21A2 gene targeted mutation analysis:Prid:Pt:Amnio fld:Nom:MolgenCYP2C19 gene targeted mutation analysis:Prid:Pt:Bld:Nar:Molgen

Papers overview

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Highly Cited
2016
Highly Cited
2016
ctDNA Determination of EGFR Mutation Status in European and Japanese Patients with Advanced NSCLC: The ASSESS Study
Highly Cited
2011
Highly Cited
2011
Rebiopsy of Lung Cancer Patients with Acquired Resistance to EGFR Inhibitors and Enhanced Detection of the T790M Mutation Using a Locked Nucleic Acid-Based Assay
Background: The epidermal growth factor receptor (EGFR) mutation T790M is reported in approximately 50% of lung cancers with… 
Highly Cited
2010
Highly Cited
2010
A comparison of ARMS and DNA sequencing for mutation analysis in clinical biopsy samples
BackgroundWe have compared mutation analysis by DNA sequencing and Amplification Refractory Mutation System™ (ARMS™) for their… 
Highly Cited
2008
Highly Cited
2008
Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy.
Highly Cited
2004
Highly Cited
2004
Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary…
PURPOSE The aim of the study was the analysis of the involvement and phenotypic manifestations of MSH6 germline mutations in… 
Highly Cited
2003
Highly Cited
2003
Identification of fibroblast growth factor receptor 3 mutations in urine sediment DNA samples complements cytology in bladder tumor detection
Mutations in fibroblast growth factor 3 receptor (FGFR3) are frequent events in low‐grade bladder tumors. To assess the potential… 
Highly Cited
1999
Highly Cited
1999
Somatic ATM mutations indicate a pathogenic role of ATM in B-cell chronic lymphocytic leukemia.
Deletion in chromosome bands 11q22-q23 is one of the most common chromosome aberrations in B-cell chronic lymphocytic leukemia (B… 
Highly Cited
1999
Highly Cited
1999
A comparison of BRCA1 mutation analysis by direct sequencing, SSCP and DHPLC
The most sensitive screening technique for genes that predispose patients for particular cancers is direct sequencing. However… 
Highly Cited
1998
Highly Cited
1998
Mutations in the gene encoding gap junction protein β-3 associated with autosomal dominant hearing impairment
Hearing impairment is the most commonly occurring condition that affects the ability of humans to communicate. More than 50% of… 
Highly Cited
1997
Highly Cited
1997
Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis.
PTEN, a protein tyrosine phosphatase with homology to tensin, is a tumor-suppressor gene on chromosome 10q23. Somatic mutations… 
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