A Torroni

Summary

Affiliation: Dipartimento di Chimica
Country: Italy

Publications

  1. pmc The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness
    A Torroni
    Istituto di Chimica Biologica, Universita di Urbino, Urbino, Italy
    Am J Hum Genet 65:1349-58. 1999
  2. pmc Classification of European mtDNAs from an analysis of three European populations
    A Torroni
    Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, Georgia 30322, USA
    Genetics 144:1835-50. 1996
  3. pmc 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
    A Torroni
    Dipartimento di Genetica e Biologia Molecolare, Universita di Roma La Sapienza, Rome, Italy
    Am J Hum Genet 60:1107-21. 1997
  4. pmc mtDNA analysis reveals a major late Paleolithic population expansion from southwestern to northeastern Europe
    A Torroni
    Dipartimento di Genetica e Biologia Molecolare, Universita di Roma La Sapienza, Rome, Italy
    Am J Hum Genet 62:1137-52. 1998
  5. pmc Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy
    M D Brown
    Center for Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, Georgia 30322
    Genetics 130:163-73. 1992
  6. pmc Combined use of biallelic and microsatellite Y-chromosome polymorphisms to infer affinities among African populations
    R Scozzari
    Dipartimento di Genetica e Biologia Molecolare, Universita La Sapienza, 00185, Rome, Italy
    Am J Hum Genet 65:829-46. 1999
  7. pmc mtDNA haplogroup X: An ancient link between Europe/Western Asia and North America?
    M D Brown
    Center for Molecular Medicine, Emory University School of Medicine, Atlanta, GA, USA
    Am J Hum Genet 63:1852-61. 1998
  8. pmc Differential structuring of human populations for homologous X and Y microsatellite loci
    R Scozzari
    Dipartimento di Genetica e Biologia Molecolare, Universita La Sapienza, Rome, Italy
    Am J Hum Genet 61:719-33. 1997
  9. ncbi request reprint Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations
    M D Brown
    Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, Georgia 30322, USA
    Hum Mutat 6:311-25. 1995
  10. pmc A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I
    M D Brown
    Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, GA 30322
    Am J Hum Genet 51:378-85. 1992

Detail Information

Publications12

  1. pmc The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness
    A Torroni
    Istituto di Chimica Biologica, Universita di Urbino, Urbino, Italy
    Am J Hum Genet 65:1349-58. 1999
    ....
  2. pmc Classification of European mtDNAs from an analysis of three European populations
    A Torroni
    Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, Georgia 30322, USA
    Genetics 144:1835-50. 1996
    ....
  3. pmc 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
    A Torroni
    Dipartimento di Genetica e Biologia Molecolare, Universita di Roma La Sapienza, Rome, Italy
    Am J Hum Genet 60:1107-21. 1997
    ..This finding suggests that one ancient combination of haplogroup J-specific mutations increases both the penetrance of the two primary mutations 11778 and 14484 and the risk of disease expression...
  4. pmc mtDNA analysis reveals a major late Paleolithic population expansion from southwestern to northeastern Europe
    A Torroni
    Dipartimento di Genetica e Biologia Molecolare, Universita di Roma La Sapienza, Rome, Italy
    Am J Hum Genet 62:1137-52. 1998
    ....
  5. pmc Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy
    M D Brown
    Center for Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, Georgia 30322
    Genetics 130:163-73. 1992
    ....
  6. pmc Combined use of biallelic and microsatellite Y-chromosome polymorphisms to infer affinities among African populations
    R Scozzari
    Dipartimento di Genetica e Biologia Molecolare, Universita La Sapienza, 00185, Rome, Italy
    Am J Hum Genet 65:829-46. 1999
    ..Despite some correspondence between language affiliation and genetic similarity, geographic proximity seems to be a better predictor of genetic affinity...
  7. pmc mtDNA haplogroup X: An ancient link between Europe/Western Asia and North America?
    M D Brown
    Center for Molecular Medicine, Emory University School of Medicine, Atlanta, GA, USA
    Am J Hum Genet 63:1852-61. 1998
    ..To date, haplogroup X has not been unambiguously identified in Asia, raising the possibility that some Native American founders were of Caucasian ancestry...
  8. pmc Differential structuring of human populations for homologous X and Y microsatellite loci
    R Scozzari
    Dipartimento di Genetica e Biologia Molecolare, Universita La Sapienza, Rome, Italy
    Am J Hum Genet 61:719-33. 1997
    ..Possible factors involved in this differential structuring for homologous X and Y microsatellite polymorphisms are discussed...
  9. ncbi request reprint Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations
    M D Brown
    Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, Georgia 30322, USA
    Hum Mutat 6:311-25. 1995
    ..A phylogenetic approach to this genetically heterogeneous disease has thus provided key genetic data bearing on the relative pathogenicity of the LHON-associated mtDNA mutations...
  10. pmc A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I
    M D Brown
    Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, GA 30322
    Am J Hum Genet 51:378-85. 1992
    ..These data suggest that the np 7444 mutation results in partial respiratory deficiency and thus contributes to the onset of LHON...
  11. ncbi request reprint Epidemic neuropathy in Cuba not associated with mitochondrial DNA mutations found in Leber's hereditary optic neuropathy patients. Cuba Neuropathy Field Investigation Team
    N J Newman
    Department of Ophthalmology, Emory University School of Medicine, Atlanta, Georgia 30322
    Am J Ophthalmol 118:158-68. 1994
    ..Maternal family members harbored the highly pathogenetic mutation at nucleotide position 11778...
  12. ncbi request reprint Human Y-chromosome variation in the western Mediterranean area: implications for the peopling of the region
    R Scozzari
    Department of Genetics and Molecular Biology, University of Rome La Sapienza, Rome, Italy
    Hum Immunol 62:871-84. 2001
    ....