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… (More)

Topic mentions per year

Topic mentions per year

1968-2017
010020030019682017

Papers overview

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Highly Cited
2007
Highly Cited
2007
The MITOMAP (http://www.mitomap.org) data system for the human mitochondrial genome has been greatly enhanced by the addition of… (More)
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Highly Cited
2004
Highly Cited
2004
BACKGROUND Mutations of NPHS2 are causative in familial autosomal-recessive (AR) and sporadic steroid-resistant nephrotic… (More)
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Highly Cited
2004
Highly Cited
2004
We have recently reported homozygous mutations in the PINK1 gene in three consanguineous families with early-onset parkinsonism… (More)
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Highly Cited
2003
Highly Cited
2003
BACKGROUND Although as many as 10% of pancreatic cancer cases may have an inherited component, familial pancreatic cancer has not… (More)
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Highly Cited
2002
Highly Cited
2002
Mutations in the tumor suppressor gene TP53 are frequent in most human cancers. Comparison of the mutation patterns in different… (More)
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Highly Cited
2001
Highly Cited
2001
Tuberous sclerosis (TSC) is a relatively common hamartoma syndrome caused by mutations in either of two genes, TSC1 and TSC2… (More)
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Highly Cited
2000
Highly Cited
2000
Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders and is caused by mutations in the NF1 gene… (More)
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Highly Cited
1998
Highly Cited
1998
The contribution of BRCA1 and BRCA2 to inherited breast cancer was assessed by linkage and mutation analysis in 237 families… (More)
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Highly Cited
1996
Highly Cited
1996
BACKGROUND & AIMS Hereditary nonpolyposis colorectal cancer is characterized by early-onset colorectal cancer and the occurrence… (More)
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Highly Cited
1994
Highly Cited
1994
In recent years, there has been an exponential increase in the number of p53 mutations identified in human cancers. The p53… (More)
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