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. 
  • An alternative to the search for single polymorphisms: toward molecular personality scales for the five-factor model. 
  • 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. 
  • Genetic analysis of a family with hereditary glomuvenous malformations. 
  • Genetic variation in the spread of Drosophila subobscura from a nonequilibrium population. 
  • 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. 
  • 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. 
  • 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. 
  • Personality traits in Sardinia: testing founder population effects on trait means and variances. 
  • 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, Professor in Surgery, Molecular Genetics and Microbiology