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Journal Abstract Search

174 related items for PubMed ID: 8018492

  • 1. Deletion of the mitochondrial DNA in a case of de Toni-Debré-Fanconi syndrome and Pearson syndrome.
    Niaudet P, Heidet L, Munnich A, Schmitz J, Bouissou F, Gubler MC, Rötig A.
    Pediatr Nephrol; 1994 Apr; 8(2):164-8. PubMed ID: 8018492
    [Abstract] [Full Text] [Related]

  • 2. Pearson's marrow/pancreas syndrome: a histological and genetic study.
    Morikawa Y, Matsuura N, Kakudo K, Higuchi R, Koike M, Kobayashi Y.
    Virchows Arch A Pathol Anat Histopathol; 1993 Apr; 423(3):227-31. PubMed ID: 8236818
    [Abstract] [Full Text] [Related]

  • 3. Pearson's syndrome presenting with Fanconi syndrome.
    Gilbert RD, Emms M.
    Ultrastruct Pathol; 1996 Apr; 20(5):473-5. PubMed ID: 8883332
    [Abstract] [Full Text] [Related]

  • 4. Detection of extremely low levels of wild-type mitochondrial DNA in the liver of a patient with Pearson syndrome by a sensitive PCR assay.
    de Vries DD, Ruitenbeek W, van Oost BA.
    J Inherit Metab Dis; 1992 Apr; 15(3):307-10. PubMed ID: 1405463
    [No Abstract] [Full Text] [Related]

  • 5. Prenatal manifestation of pancytopenia in Pearson marrow-pancreas syndrome caused by a mitochondrial DNA deletion.
    Giese A, Kirschner-Schwabe R, Blumchen K, Wronski L, Shalapour S, Prada J, Driever PH, Brauer M, Schuelke M, Henze G, Seeger K.
    Am J Med Genet A; 2007 Feb 01; 143A(3):285-8. PubMed ID: 17219391
    [No Abstract] [Full Text] [Related]

  • 6. De Toni-Debré-Fanconi syndrome due to a palindrome-flanked deletion in mitochondrial DNA.
    Solano A, Russo G, Playán A, Parisi M, DiPietro M, Scuderi A, Palumbo M, Renis M, López-Pérez MJ, Andreu AL, Montoya J.
    Pediatr Nephrol; 2004 Jul 01; 19(7):790-3. PubMed ID: 15133725
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome.
    Rötig A, Bourgeron T, Chretien D, Rustin P, Munnich A.
    Hum Mol Genet; 1995 Aug 01; 4(8):1327-30. PubMed ID: 7581370
    [Abstract] [Full Text] [Related]

  • 9. Mitochondrial DNA deletion in an 8-year-old boy with Pearson syndrome.
    Baerlocher KE, Feldges A, Weissert M, Simonsz HJ, Rötig A.
    J Inherit Metab Dis; 1992 Aug 01; 15(3):327-30. PubMed ID: 1405465
    [No Abstract] [Full Text] [Related]

  • 10. Complex I deficiency with diabetes, Fanconi syndrome and mtDNA deletion.
    Luder A, Barash V.
    J Inherit Metab Dis; 1994 Aug 01; 17(3):298-300. PubMed ID: 7807936
    [No Abstract] [Full Text] [Related]

  • 11. Therapeutic approach in a case of Pearson's syndrome.
    Zaffanello M, Zamboni G.
    Minerva Pediatr; 2005 Jun 01; 57(3):143-6. PubMed ID: 16170299
    [Abstract] [Full Text] [Related]

  • 12. Clinical implications of duplicated mtDNA in Pearson syndrome.
    Muraki K, Sakura N, Ueda H, Kihara H, Goto Y.
    Am J Med Genet; 2001 Jan 22; 98(3):205-9. PubMed ID: 11169556
    [Abstract] [Full Text] [Related]

  • 13. Hematologic features and clinical course of an infant with Pearson syndrome caused by a novel deletion of mitochondrial DNA.
    Knerr I, Metzler M, Niemeyer CM, Holter W, Gerecke A, Baumann I, Trollmann R, Repp R.
    J Pediatr Hematol Oncol; 2003 Dec 22; 25(12):948-51. PubMed ID: 14663277
    [Abstract] [Full Text] [Related]

  • 14. 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 Dec 22; 52(1):23-6. PubMed ID: 19026771
    [Abstract] [Full Text] [Related]

  • 15. Pearson marrow pancreas syndrome: a molecular study and clinical management.
    Seneca S, De Meirleir L, De Schepper J, Balduck N, Jochmans K, Liebaers I, Lissens W.
    Clin Genet; 1997 May 22; 51(5):338-42. PubMed ID: 9212183
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  • 18. Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome.
    Rötig A, Cormier V, Koll F, Mize CE, Saudubray JM, Veerman A, Pearson HA, Munnich A.
    Genomics; 1991 Jun 22; 10(2):502-4. PubMed ID: 1712754
    [Abstract] [Full Text] [Related]

  • 19. Severe lactic acidosis and neonatal death in Pearson syndrome.
    Muraki K, Goto Y, Nishino I, Hayashidani M, Takeuchi S, Horai S, Sakura N, Ueda K.
    J Inherit Metab Dis; 1997 Mar 22; 20(1):43-8. PubMed ID: 9061566
    [Abstract] [Full Text] [Related]

  • 20. Pearson syndrome and the role of deletion dimers and duplications in the mtDNA.
    Jacobs LJ, Jongbloed RJ, Wijburg FA, de Klerk JB, Geraedts JP, Nijland JG, Scholte HR, de Coo IF, Smeets HJ.
    J Inherit Metab Dis; 2004 Mar 22; 27(1):47-55. PubMed ID: 14970745
    [Abstract] [Full Text] [Related]

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