Skip to search formSkip to main contentSkip to account menu

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.
2008
2008
Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin
To date, six genes are known to cause nemaline (rod) myopathy (NM), a rare congenital neuromuscular disorder. In an attempt to… 
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… 
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… 
2002
2002
3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings.
Highly Cited
2001
Highly Cited
2001
Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families.
2001
2001
Founder BRCA1 and BRCA2 mutations in early‐onset French Canadian breast cancer cases unselected for family history
Recently, founder BRCA1 and BRCA2 mutations were identified in Canadian breast cancer and breast‐ovarian cancer families of… 
Highly Cited
2000
Highly Cited
2000
Prevalence of founder BRCA1 and BRCA2 mutations among breast and ovarian cancer patients in Hungary
We have investigated the impact of BRCA1 and BRCA2 mutations that were frequently identified among Hungarian high‐risk breast… 
1997
1997
Sorsby fundus dystrophy: reevaluation of variable expressivity in patients carrying a TIMP3 founder mutation.
Interfamilial phenotypic variations in Sorsby fundus dystrophy (SFD) have given rise to controversy as to whether SFD constitutes… 
Highly Cited
1996
Highly Cited
1996
Genetic homogeneity of autoimmune polyglandular disease type I.
Autoimmune polyglandular disease type I (APECED) is an autosomal recessive autoimmune disease (MIM 240300) characterized by… 
Highly Cited
1995
Highly Cited
1995
Random search for shared chromosomal regions in four affected individuals: the assignment of a new hereditary ataxia locus.
Infantile-onset spinocerebellar ataxia (IOSCA) is an autosomal recessively inherited progressive neurological disorder of unknown… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)