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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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2008
2008
Germline TP53 mutations in BRCA1 and BRCA2 mutation-negative French Canadian breast cancer families
About 40% of French Canadian breast and/or ovarian cancer families harbor germline BRCA1 or BRCA1 mutations where common… 
2007
2007
Prognostic value of p53 for high risk superficial bladder cancer with long-term followup.
Highly Cited
2005
Highly Cited
2005
Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiency.
2005
2005
Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations
Correction to: European Journal of Human Genetics (2005) 13, 292–301. doi:10.1038/sj.ejhg.5201314 The author name Malwina Czarny… 
Highly Cited
2004
Highly Cited
2004
NDRG2 expression and mutation in human liver and pancreatic cancers.
AIM To investigate the expression of NDRG2 and mutation of the entire coding region of NDRG2 in human liver and pancreatic… 
Review
2003
Review
2003
Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations
Epidermolysis bullosa simplex is a group of blistering skin disorders caused by defects in one of the keratin genes, KRT5 and… 
Highly Cited
2002
Highly Cited
2002
Linkage stratification and mutation analysis at the parkin locus identifies mutation positive Parkinson's disease families
Parkinson's disease (PD) is one of the most common neurological disorders in humans with an overall prevalence of 1:1000 with the… 
1996
1996
Clinical presentations and RET protooncogene mutations in seven multiple endocrine neoplasia type 2 kindreds
Multiple endocrine neoplasia type 2 (MEN 2) is a group of related autosomal dominant cancer syndromes caused by mutations in the… 
1991
1991
Regulation of JCVL promoter function: evidence that a pentanucleotide "silencer" repeat sequence AGGGAAGGGA down-regulates transcription of the JC virus late promoter.
Highly Cited
1989
Highly Cited
1989
Early transcribed sequences affect termination efficiency of Escherichia coli RNA polymerase.
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