Literature DB >> 10521313

About the "Pathological" role of the mtDNA T3308C mutationellipsis.

H Rocha, C Flores, Y Campos, J Arenas, L Vilarinho, F M Santorelli, A Torroni.   

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Year:  1999        PMID: 10521313      PMCID: PMC1288299          DOI: 10.1086/302641

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.025


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  10 in total

1.  Mitochondrial DNA analysis of northwest African populations reveals genetic exchanges with European, near-eastern, and sub-Saharan populations.

Authors:  J C Rando; F Pinto; A M González; M Hernández; J M Larruga; V M Cabrera; H J Bandelt
Journal:  Ann Hum Genet       Date:  1998-11       Impact factor: 1.670

2.  The ND1 T3308C mutation may be a mtDNA polymorphism. Report of two Portuguese patients.

Authors:  L Vilarinho; R Chorão; M L Cardoso; H Rocha; C Nogueira; F M Santorelli
Journal:  J Inherit Metab Dis       Date:  1999-02       Impact factor: 4.982

3.  Mitochondrial footprints of human expansions in Africa.

Authors:  E Watson; P Forster; M Richards; H J Bandelt
Journal:  Am J Hum Genet       Date:  1997-09       Impact factor: 11.025

4.  Relatedness among Basques, Portuguese, Spaniards, and Algerians studied by HLA allelic frequencies and haplotypes.

Authors:  A Arnaiz-Villena; J Martínez-Laso; E Gómez-Casado; N Díaz-Campos; P Santos; A Martinho; H Breda-Coimbra
Journal:  Immunogenetics       Date:  1997       Impact factor: 2.846

5.  Classification of European mtDNAs from an analysis of three European populations.

Authors:  A Torroni; K Huoponen; P Francalacci; M Petrozzi; L Morelli; R Scozzari; D Obinu; M L Savontaus; D C Wallace
Journal:  Genetics       Date:  1996-12       Impact factor: 4.562

6.  Bilateral striatal necrosis and MELAS associated with a new T3308C mutation in the mitochondrial ND1 gene.

Authors:  Y Campos; M A Martín; J C Rubio; M C Gutiérrez del Olmo; A Cabello; J Arenas
Journal:  Biochem Biophys Res Commun       Date:  1997-09-18       Impact factor: 3.575

7.  Sequence and organization of the human mitochondrial genome.

Authors:  S Anderson; A T Bankier; B G Barrell; M H de Bruijn; A R Coulson; J Drouin; I C Eperon; D P Nierlich; B A Roe; F Sanger; P H Schreier; A J Smith; R Staden; I G Young
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8.  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.

Authors:  A Torroni; M Petrozzi; L D'Urbano; D Sellitto; M Zeviani; F Carrara; C Carducci; V Leuzzi; V Carelli; P Barboni; A De Negri; R Scozzari
Journal:  Am J Hum Genet       Date:  1997-05       Impact factor: 11.025

9.  Analysis of mtDNA variation in African populations reveals the most ancient of all human continent-specific haplogroups.

Authors:  Y S Chen; A Torroni; L Excoffier; A S Santachiara-Benerecetti; D C Wallace
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10.  Somatic mutations of the mitochondrial genome in human colorectal tumours.

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  10 in total

1.  mtDNA haplogroups and frequency patterns in Europe.

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4.  A reappraisal of complete mtDNA variation in East Asian families with hearing impairment.

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Authors:  Avihu Boneh; Stanley H Korman; Kenichi Sato; Junko Kanno; Yoichi Matsubara; Israela Lerer; Ziva Ben-Neriah; Shigeo Kure
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6.  Phylogeographic analysis of mitochondrial DNA haplogroup F2 in China reveals T12338C in the initiation codon of the ND5 gene not to be pathogenic.

Authors:  Qing-Peng Kong; Yong-Gang Yao; Chang Sun; Chun-Ling Zhu; Li Zhong; Cheng-Ye Wang; Wang-Wei Cai; Xiang-Min Xu; An-Long Xu; Ya-Ping Zhang
Journal:  J Hum Genet       Date:  2004-07-22       Impact factor: 3.172

7.  Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness.

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Authors:  Tatiana V Andreeva; Andrey D Manakhov; Fedor E Gusev; Anton D Patrikeev; Lyubov V Golovanova; Vladimir B Doronichev; Ivan G Shirobokov; Evgeny I Rogaev
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10.  The phylogeny of the four pan-American MtDNA haplogroups: implications for evolutionary and disease studies.

Authors:  Alessandro Achilli; Ugo A Perego; Claudio M Bravi; Michael D Coble; Qing-Peng Kong; Scott R Woodward; Antonio Salas; Antonio Torroni; Hans-Jürgen Bandelt
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  10 in total

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