BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

157 related articles for article (PubMed ID: 12673655)

  • 1. Pathogenic role of mtDNA duplications in mitochondrial diseases associated with mtDNA deletions.
    Odoardi F; Rana M; Broccolini A; Mirabella M; Modoni A; D'Amico A; Papacci M; Tonali P; Servidei S; Silvestri G
    Am J Med Genet A; 2003 Apr; 118A(3):247-54. PubMed ID: 12673655
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Are duplications of mitochondrial DNA characteristic of Kearns-Sayre syndrome?
    Poulton J; Morten KJ; Weber K; Brown GK; Bindoff L
    Hum Mol Genet; 1994 Jun; 3(6):947-51. PubMed ID: 7951243
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation.
    Kierdaszuk B; Kaliszewska M; Rusecka J; Kosińska J; Bartnik E; Tońska K; Kamińska AM; Kostera-Pruszczyk A
    Genes (Basel); 2020 Dec; 12(1):. PubMed ID: 33396418
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Duplications of mitochondrial DNA in Kearns-Sayre syndrome.
    Poulton J; Morten KJ; Marchington D; Weber K; Brown GK; Rötig A; Bindoff L
    Muscle Nerve Suppl; 1995; 3():S154-8. PubMed ID: 7603518
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mitochondrial DNA deletion and duplication in Kearns-Sayre Syndrome (KSS) with initial presentation as Pearson Marrow-Pancreas Syndrome (PMPS): Two case reports in Barranquilla, Colombia.
    Sabella-Jiménez V; Otero-Herrera C; Silvera-Redondo C; Garavito-Galofre P
    Mol Genet Genomic Med; 2020 Nov; 8(11):e1509. PubMed ID: 33030289
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes.
    Sadikovic B; Wang J; El-Hattab AW; Landsverk M; Douglas G; Brundage EK; Craigen WJ; Schmitt ES; Wong LJ
    PLoS One; 2010 Dec; 5(12):e15687. PubMed ID: 21187929
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses.
    Carrozzo R; Hirano M; Fromenty B; Casali C; Santorelli FM; Bonilla E; DiMauro S; Schon EA; Miranda AF
    Neurology; 1998 Jan; 50(1):99-106. PubMed ID: 9443465
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The clinical, myopathological, and genetic analysis of 155 Chinese mitochondrial ophthalmoplegia patients with mitochondrial DNA single large deletions.
    Zhao Y; Hou Y; Zhao X; Liufu T; Yu M; Zhang W; Xie Z; Zhang VW; Yuan Y; Wang Z
    Mol Genet Genomic Med; 2024 Jan; 12(1):e2328. PubMed ID: 38018320
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Partial deletion of mitochondrial DNA in mitochondrial encephalomyopathies].
    Wang W; Zhang J; Guo Y; Guo Z; Ren H
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao; 1997 Aug; 19(4):278-83. PubMed ID: 10453567
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mitochondrial encephalomyopathy and hypoparathyroidism associated with a duplication and a deletion of mitochondrial deoxyribonucleic acid.
    Tengan CH; Kiyomoto BH; Rocha MS; Tavares VL; Gabbai AA; Moraes CT
    J Clin Endocrinol Metab; 1998 Jan; 83(1):125-9. PubMed ID: 9435428
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia.
    Rodríguez-López C; García-Cárdaba LM; Blázquez A; Serrano-Lorenzo P; Gutiérrez-Gutiérrez G; San Millán-Tejado B; Muelas N; Hernández-Laín A; Vílchez JJ; Gutiérrez-Rivas E; Arenas J; Martín MA; Domínguez-González C
    J Med Genet; 2020 Sep; 57(9):643-646. PubMed ID: 32161153
    [TBL] [Abstract][Full Text] [Related]  

  • 12. High proportions of mtDNA duplications in patients with Kearns-Sayre syndrome occur in the heart.
    Fromenty B; Carrozzo R; Shanske S; Schon EA
    Am J Med Genet; 1997 Sep; 71(4):443-52. PubMed ID: 9286453
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome.
    Shanske S; Tang Y; Hirano M; Nishigaki Y; Tanji K; Bonilla E; Sue C; Krishna S; Carlo JR; Willner J; Schon EA; DiMauro S
    Am J Hum Genet; 2002 Sep; 71(3):679-83. PubMed ID: 12152148
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Transcription and translation of deleted mitochondrial genomes in Kearns-Sayre syndrome: implications for pathogenesis.
    Nakase H; Moraes CT; Rizzuto R; Lombes A; DiMauro S; Schon EA
    Am J Hum Genet; 1990 Mar; 46(3):418-27. PubMed ID: 1689952
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Different tissue distribution of a mitochondrial DNA duplication and the corresponding deletion in a patient with a mild mitochondrial encephalomyopathy: deletion in muscle, duplication in blood.
    Houshmand M; Gardner A; Hällström T; Müntzing K; Oldfors A; Holme E
    Neuromuscul Disord; 2004 Mar; 14(3):195-201. PubMed ID: 15036329
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Redefining phenotypes associated with mitochondrial DNA single deletion.
    Mancuso M; Orsucci D; Angelini C; Bertini E; Carelli V; Comi GP; Donati MA; Federico A; Minetti C; Moggio M; Mongini T; Santorelli FM; Servidei S; Tonin P; Toscano A; Bruno C; Bello L; Caldarazzo Ienco E; Cardaioli E; Catteruccia M; Da Pozzo P; Filosto M; Lamperti C; Moroni I; Musumeci O; Pegoraro E; Ronchi D; Sauchelli D; Scarpelli M; Sciacco M; Valentino ML; Vercelli L; Zeviani M; Siciliano G
    J Neurol; 2015 May; 262(5):1301-9. PubMed ID: 25808502
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Deletions of mitochondrial DNA in Kearns-Sayre syndrome].
    Soga F; Ueno S; Yorifuji S
    Nihon Rinsho; 1993 Sep; 51(9):2386-90. PubMed ID: 8411717
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Mitochondrial DNA mutations in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome].
    Wang ZX; Yuan Y; Gao F; Qi Y; Shen DG; Chen QT
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Aug; 20(4):273-8. PubMed ID: 12903032
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Specific detection of deleted mitochondrial DNA by in situ hybridization using a chimera probe.
    Nakamura N; Hattori N; Tanaka M; Mizuno Y
    Biochim Biophys Acta; 1996 Sep; 1308(3):215-21. PubMed ID: 8809113
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Chronic progressive external ophthalmoplegia with ragged-red fibers: clinical, morphological and genetic investigations in 43 patients.
    Laforêt P; Lombès A; Eymard B; Danan C; Chevallay M; Rouche A; Frachon P; Fardeau M
    Neuromuscul Disord; 1995 Sep; 5(5):399-413. PubMed ID: 7496174
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.