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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… 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2014
Review
2014
The Ashkenazi Jewish carrier screening panel: evolution, status quo, and disparities
Although prenatal/preconception carrier screening recommendations for individuals of Ashkenazi Jewish descent (AJ) were published… 
2010
2010
A homoallelic FECH mutation in a patient with both erythropoietic protoporphyria and palmar keratoderma
Background  Erythropoietic protoporphyria (EPP) is a hereditary disorder caused by the deficiency of ferrochelatase (FECH) in the… 
2008
2008
Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families
Benign adult familial myoclonic epilepsy (BAFME or FAME) is an autosomal dominant condition, characterized by shivering-like… 
2006
2006
American founder mutation for Lynch syndrome
Recently, a new founder mutation, an exon 1–6 deletion in a mismatch repair gene (MMR), MSH2, in nine kindreds with Lynch… 
2005
2005
The HNPCC associated MSH2*1906G→C founder mutation probably originated between 1440 CE and 1715 CE in the Ashkenazi Jewish population
The MSH2*1906G→C mutation was recently shown to be a rare yet highly penetrant mutation leading to colorectal cancer. The… 
Highly Cited
2004
Highly Cited
2004
Detection of the founder effect in Finnish CADASIL families
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited… 
2003
2003
A636P is associated with early-onset colon cancer in Ashkenazi Jews.
2001
2001
Identification of a Founder Mutation in the Protoporphyrinogen Oxidase Gene in Variegate Porphyria Patients from Chile
Variegate porphyria (VP; OMIM 176200) is characterized by a partial defect in the activity of protoporphyrinogen oxidase (PPO… 
1999
1999
Search for the PARK3 founder haplotype in a large cohort of patients with Parkinson's disease from Northern Germany
A founder haplotype on chromosome 2p for autosomal dominant Parkinson's disease (PD) has been postulated for two families of… 
1999
1999
Detailed haplotype analysis in Ashkenazi Jewish and non‐Jewish British dystonic patients carrying the GAG deletion in the DYT1 gene: evidence for a limited number of founder mutations
The DYT1 gene on human chromosome 9q34 appears to be responsible for most cases of early onset primary torsion dystonia (PTD… 
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