NATURAL SEQUENCE VARIATION OF MTDNA AND ITS ROLE IN DISEASE/PHENOTYPE EXPRESSION: COMPLETE SEQUENCE ANALYSIS OF MTDNAS REPRESENTATIVE OF ALL HAPLOGROUPS OBSERVED IN EUROPE

Pubblicazioni Scientifiche

• 2002 AMERICAN JOURNAL OF HUMAN GENETICS

  Founding mothers of Jewish communities: Geographically separated Jewish groups were independently founded by very few female ancestors

• 1999 AMERICAN JOURNAL OF HUMAN GENETICS

  About the "pathological" role of the mtDNA T3308C mutation ...

• 2002 ANNALS OF NEUROLOGY

  Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy

• 2003 AMERICAN JOURNAL OF HUMAN GENETICS

  Origin and diffusion of mtDNA haplogroup X

• 2004 AMERICAN JOURNAL OF HUMAN GENETICS

  Phylogeographic analysis of haplogroup E3b (E-M215) Y chromosomes reveals multiple migratory events within and out of Africa

• 2004 AMERICAN JOURNAL OF HUMAN GENETICS

  Where west meets east: The complex mtDNA landscape of the southwest and Central Asian corridor

• 2003 AMERICAN JOURNAL OF HUMAN GENETICS

  Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation

• 1999 AMERICAN JOURNAL OF HUMAN GENETICS

  The A1555G mutation in the 12S rRNA gene of human mtDNA: Recurrent origins and founder events in families affected by sensorineural deafness

• 2001 AMERICAN JOURNAL OF HUMAN GENETICS

  Do the four clades of the mtDNA haplogroup L2 evolve at different rates?

• 2001 AMERICAN JOURNAL OF HUMAN GENETICS

  A signal, from human mtDNA, of postglacial recolonization in Europe

• 2002 BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

  Respiratory function in cybrid cell lines carrying European mtDNA haplogroups: implications for Leber's hereditary optic neuropathy

• 2006 GENETICS IN MEDECINE

  The role of selection in the evolution of human mitochondrial genomes