Founder Mutation

A gene mutation observed with high frequency in a group that is or was geographically or culturally isolated, in which one or more of the ancestors… (More)
National Institutes of Health

Papers overview

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Highly Cited
2009
Highly Cited
2009
BACKGROUND & AIMS The clonality of colitis-associated neoplasia has not been fully determined. One previous report showed… (More)
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Highly Cited
2008
Highly Cited
2008
PURPOSE PALB2 is a recently identified breast cancer susceptibility gene. We have previously identified in the Finnish population… (More)
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Highly Cited
2007
Highly Cited
2007
CONTEXT Hereditary diffuse gastric cancer is caused by germline mutations in the epithelial cadherin (CDH1) gene and is… (More)
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Highly Cited
2007
Highly Cited
2007
The human eye color is a quantitative trait displaying multifactorial inheritance. Several studies have shown that the OCA2 locus… (More)
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Highly Cited
2007
Highly Cited
2007
BACKGROUND Mutations in the BRCA2 gene are associated with an increased risk of prostate cancer, but it is not known whether they… (More)
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Highly Cited
2003
Highly Cited
2003
Mutations in the GJB2 gene (connexin 26) are the major cause of autosomal recessive non-syndromic hearing impairment in many… (More)
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Highly Cited
2002
Highly Cited
2002
BACKGROUND Paragangliomas are rare and highly heritable tumours of neuroectodermal origin that often develop in the head and neck… (More)
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Highly Cited
2001
Highly Cited
2001
A deletion of at least 140 kb starting approximately 35kb upstream (telomeric) to the GJB2 (CX26) gene was identified in 7… (More)
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Highly Cited
2001
Highly Cited
2001
Type III 3-methylglutaconic aciduria (MGA) (MIM 258501) is a neuro-ophthalmologic syndrome that consists of early-onset bilateral… (More)
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Highly Cited
1995
Highly Cited
1995
We have examined data on six closely linked microsatellite loci on chromosome 9q34 from 59 Ashkenazi Jewish families with… (More)
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