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Phylogeographic analysis of haplogroup E3b (E-M215) y chromosomes reveals multiple migratory events within and out of Africa.
Cruciani F, La Fratta R, Santolamazza P, Sellitto D, Pascone R, Moral P, Watson E, Guida V, Colomb EB, Zaharova B, Lavinha J, Vona G, Aman R, Cali F, Akar N, Richards M, Torroni A, Novelletto A, Scozzari R. Cruciani F, et al. Among authors: scozzari r. Am J Hum Genet. 2004 May;74(5):1014-22. doi: 10.1086/386294. Epub 2004 Mar 24. Am J Hum Genet. 2004. PMID: 15042509 Free PMC article.
The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool.
Achilli A, Rengo C, Magri C, Battaglia V, Olivieri A, Scozzari R, Cruciani F, Zeviani M, Briem E, Carelli V, Moral P, Dugoujon JM, Roostalu U, Loogväli EL, Kivisild T, Bandelt HJ, Richards M, Villems R, Santachiara-Benerecetti AS, Semino O, Torroni A. Achilli A, et al. Among authors: scozzari r. Am J Hum Genet. 2004 Nov;75(5):910-8. doi: 10.1086/425590. Epub 2004 Sep 20. Am J Hum Genet. 2004. PMID: 15382008 Free PMC article.
Saami and Berbers--an unexpected mitochondrial DNA link.
Achilli A, Rengo C, Battaglia V, Pala M, Olivieri A, Fornarino S, Magri C, Scozzari R, Babudri N, Santachiara-Benerecetti AS, Bandelt HJ, Semino O, Torroni A. Achilli A, et al. Among authors: scozzari r. Am J Hum Genet. 2005 May;76(5):883-6. doi: 10.1086/430073. Epub 2005 Mar 24. Am J Hum Genet. 2005. PMID: 15791543 Free PMC article.
Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484.
Torroni A, Petrozzi M, D'Urbano L, Sellitto D, Zeviani M, Carrara F, Carducci C, Leuzzi V, Carelli V, Barboni P, De Negri A, Scozzari R. Torroni A, et al. Among authors: scozzari r. Am J Hum Genet. 1997 May;60(5):1107-21. Am J Hum Genet. 1997. PMID: 9150158 Free PMC article.
The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness.
Torroni A, Cruciani F, Rengo C, Sellitto D, López-Bigas N, Rabionet R, Govea N, López De Munain A, Sarduy M, Romero L, Villamar M, del Castillo I, Moreno F, Estivill X, Scozzari R. Torroni A, et al. Among authors: scozzari r. Am J Hum Genet. 1999 Nov;65(5):1349-58. doi: 10.1086/302642. Am J Hum Genet. 1999. PMID: 10521300 Free PMC article.
mtDNA haplogroups and frequency patterns in Europe.
Torroni A, Richards M, Macaulay V, Forster P, Villems R, Norby S, Savontaus ML, Huoponen K, Scozzari R, Bandelt HJ. Torroni A, et al. Among authors: scozzari r. Am J Hum Genet. 2000 Mar;66(3):1173-7. doi: 10.1086/302789. Am J Hum Genet. 2000. PMID: 10712231 Free PMC article. No abstract available.
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