Founder Effect

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  Subject Areas on Research

  • A founder mutation in the Ashkenazi Jewish population affecting messenger RNA splicing of the CCM2 gene causes cerebral cavernous malformations. 
  • Absence of genomic BRCA1 and BRCA2 rearrangements in Ashkenazi breast and ovarian cancer families. 
  • Accuracy of BRCA1 and BRCA2 founder mutation analysis in formalin-fixed and paraffin-embedded (FFPE) tissue. 
  • BRCA germline mutations in Jewish patients with pancreatic adenocarcinoma. 
  • Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency. 
  • Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts. 
  • Distribution and medical impact of loss-of-function variants in the Finnish founder population. 
  • Founding mothers of Jewish communities: geographically separated Jewish groups were independently founded by very few female ancestors. 
  • Frequency of BRCA1 and BRCA2 mutations in unselected Ashkenazi Jewish patients with colorectal cancer. 
  • Genetic analysis of a family with hereditary glomuvenous malformations. 
  • Genetic variation in the spread of Drosophila subobscura from a nonequilibrium population. 
  • Genomic microsatellites as evolutionary chronometers: a test in wild cats. 
  • High genetic diversity in a remote island population system: sans sex. 
  • Immunological and virological mechanisms of vaccine-mediated protection against SIV and HIV. 
  • Impact of immune escape mutations on HIV-1 fitness in the context of the cognate transmitted/founder genome. 
  • Incidence of non-founder BRCA1 and BRCA2 mutations in high risk Ashkenazi breast and ovarian cancer families. 
  • Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands. 
  • Molecular identification, cloning and characterization of transmitted/founder HIV-1 subtype A, D and A/D infectious molecular clones. 
  • Molecular testing for the BRCA1 and BRCA2 Ashkenazi Jewish founder mutations: a report on the College of American Pathologists proficiency testing surveys. 
  • Multilocus coalescent analyses reveal the demographic history and speciation patterns of mouse lemur sister species. 
  • Multiple populations of artemisinin-resistant Plasmodium falciparum in Cambodia. 
  • One haploid parent contributes 100% of the gene pool for a widespread species in northwest North America. 
  • Origins and prevalence of the American Founder Mutation of MSH2. 
  • Parkin-proven disease: common founders but divergent phenotypes. 
  • R726L androgen receptor mutation is uncommon in prostate cancer families in the united states. 
  • Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA. 
  • Strong founder effect in Drosophila pseudoobscura colonizing New Zealand from North America. 
  • Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect. 
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  Keywords of People

  • Ferrari, Guido, Associate Professor of Surgery, Molecular Genetics and Microbiology