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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.
A signal, from human mtDNA, of postglacial recolonization in Europe.
Torroni A, Bandelt HJ, Macaulay V, Richards M, Cruciani F, Rengo C, Martinez-Cabrera V, Villems R, Kivisild T, Metspalu E, Parik J, Tolk HV, Tambets K, Forster P, Karger B, Francalacci P, Rudan P, Janicijevic B, Rickards O, Savontaus ML, Huoponen K, Laitinen V, Koivumäki S, Sykes B, Hickey E, Novelletto A, Moral P, Sellitto D, Coppa A, Al-Zaheri N, Santachiara-Benerecetti AS, Semino O, Scozzari R. Torroni A, et al. Among authors: scozzari r. Am J Hum Genet. 2001 Oct;69(4):844-52. doi: 10.1086/323485. Epub 2001 Aug 21. Am J Hum Genet. 2001. PMID: 11517423 Free PMC article.
About the "Asian"-specific 9-bp deletion of mtDNA...
Torroni A, Petrozzi M, Santolamazza P, Sellitto D, Cruciani F, Scozzari R. Torroni A, et al. Among authors: scozzari r. Am J Hum Genet. 1995 Aug;57(2):507-8. Am J Hum Genet. 1995. PMID: 7668278 Free PMC article. No abstract available.
Differential structuring of human populations for homologous X and Y microsatellite loci.
Scozzari R, Cruciani F, Malaspina P, Santolamazza P, Ciminelli BM, Torroni A, Modiano D, Wallace DC, Kidd KK, Olckers A, Moral P, Terrenato L, Akar N, Qamar R, Mansoor A, Mehdi SQ, Meloni G, Vona G, Cole DE, Cai W, Novelletto A. Scozzari R, et al. Am J Hum Genet. 1997 Sep;61(3):719-33. doi: 10.1086/515500. Am J Hum Genet. 1997. PMID: 9326337 Free PMC article.
96 results