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Journal Abstract Search

232 related items for PubMed ID: 17458809

  • 1. Patient with Fanconi Syndrome (FS) and retinitis pigmentosa (RP) caused by a deletion and duplication of mitochondrial DNA (mtDNA).
    Pitchon EM, Cachat F, Jacquemont S, Hinard C, Borruat FX, Schorderet DF, Morris MA, Munier FL.
    Klin Monbl Augenheilkd; 2007 Apr; 224(4):340-3. PubMed ID: 17458809
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  • 2. [Retinitis pigmentosa in Kearns-Sayre syndrome resulting from mutation of mitochondrial DNA "de novo"].
    Midro AT, Zalewska R, Skrzypczak-Adamiak G, Wilichowski E.
    Klin Oczna; 1995 Jun; 97(6):203-6. PubMed ID: 7643565
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  • 5. Tubulopathy and pancytopaenia with normal pancreatic function: a variant of Pearson syndrome.
    Atale A, Bonneau-Amati P, Rötig A, Fischer A, Perez-Martin S, de Lonlay P, Niaudet P, De Parscau L, Mousson C, Thauvin-Robinet C, Munnich A, Huet F, Faivre L.
    Eur J Med Genet; 2009 Jun; 52(1):23-6. PubMed ID: 19026771
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  • 6. A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child.
    Liu HM, Tsai LP, Chien YH, Wu JF, Weng WC, Peng SF, Wu ET, Huang PH, Lee WT, Tsai IJ, Hwu WL, Lee NC.
    Pediatr Neonatol; 2012 Aug; 53(4):264-8. PubMed ID: 22964285
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  • 7. Characterization of a novel mitochondrial DNA deletion in a patient with a variant of the Pearson marrow-pancreas syndrome.
    van den Ouweland JM, de Klerk JB, van de Corput MP, Dirks RW, Raap AK, Scholte HR, Huijmans JG, Hart LM, Bruining GJ, Maassen JA.
    Eur J Hum Genet; 2000 Mar; 8(3):195-203. PubMed ID: 10780785
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  • 9. Renal and skin involvement in a patient with complete Kearns-Sayre syndrome.
    Mori K, Narahara K, Ninomiya S, Goto Y, Nonaka I.
    Am J Med Genet; 1991 Mar 15; 38(4):583-7. PubMed ID: 1648309
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  • 11. [Pigmented retinopathy as a presenting sign of mitochondrial encephalomyopathy without external ophthalmoplegia].
    Staudt S, Joussen AM, Rating D, Wilichowski E, Kolling G, Holz FG.
    Ophthalmologe; 2003 Mar 15; 100(3):234-7. PubMed ID: 12640554
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  • 13. [Variation in manifestations of heteroplasmic mtDNA mutation 8993 T>G in two families].
    Tesarová M, Hansíková H, Hlavatá A, Klement P, Houst'ková H, Houstĕk J, Zeman J.
    Cas Lek Cesk; 2002 Aug 30; 141(17):551-4. PubMed ID: 12404959
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  • 17. Pearson marrow-pancreas syndrome with worsening cardiac function caused by pleiotropic rearrangement of mitochondrial DNA.
    Krauch G, Wilichowski E, Schmidt KG, Mayatepek E.
    Am J Med Genet; 2002 Jun 01; 110(1):57-61. PubMed ID: 12116272
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  • 18. Clinical heterogeneity in mitochondrial DNA deletion disorders: a diagnostic challenge of Pearson syndrome.
    Lacbawan F, Tifft CJ, Luban NL, Schmandt SM, Guerrera M, Weinstein S, Pennybacker M, Wong LJ.
    Am J Med Genet; 2000 Nov 27; 95(3):266-8. PubMed ID: 11102933
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  • 19. Late-onset mitochondrial DNA depletion: DNA copy number, multiple deletions, and compensation.
    Barthélémy C, Ogier de Baulny H, Diaz J, Cheval MA, Frachon P, Romero N, Goutieres F, Fardeau M, Lombès A.
    Ann Neurol; 2001 May 27; 49(5):607-17. PubMed ID: 11357951
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  • 20. Prevalence of large-scale mitochondrial DNA deletions in an adult Finnish population.
    Remes AM, Majamaa-Voltti K, Kärppä M, Moilanen JS, Uimonen S, Helander H, Rusanen H, Salmela PI, Sorri M, Hassinen IE, Majamaa K.
    Neurology; 2005 Mar 22; 64(6):976-81. PubMed ID: 15781811
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