193 related articles for article (PubMed ID: 2514965)
1. [Nucleotide mapping and a kinetic model of a heteroplasmic deletion of 4,666 base pairs from mitochondrial DNA in the Kearns-Sayre syndrome].
Nelson I; d'Auriol L; Galibert F; Ponsot G; Lestienne P
C R Acad Sci III; 1989; 309(10):403-7. PubMed ID: 2514965
[TBL] [Abstract][Full Text] [Related]
2. Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy.
Shoffner JM; Lott MT; Voljavec AS; Soueidan SA; Costigan DA; Wallace DC
Proc Natl Acad Sci U S A; 1989 Oct; 86(20):7952-6. PubMed ID: 2554297
[TBL] [Abstract][Full Text] [Related]
3. Kearns-Sayre syndrome with sideroblastic anemia: molecular investigations.
Nelson I; Bonne G; Degoul F; Marsac C; Ponsot G; Lestienne P
Neuropediatrics; 1992 Aug; 23(4):199-205. PubMed ID: 1407387
[TBL] [Abstract][Full Text] [Related]
4. Kearns-Sayre syndrome case presenting a mitochondrial DNA deletion with unusual direct repeats and a rudimentary RNAase mitochondrial ribonucleotide processing target sequence.
Remes AM; Peuhkurinen KJ; Herva R; Majamaa K; Hassinen IE
Genomics; 1993 Apr; 16(1):256-8. PubMed ID: 7683627
[TBL] [Abstract][Full Text] [Related]
5. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome.
Moraes CT; DiMauro S; Zeviani M; Lombes A; Shanske S; Miranda AF; Nakase H; Bonilla E; Werneck LC; Servidei S
N Engl J Med; 1989 May; 320(20):1293-9. PubMed ID: 2541333
[TBL] [Abstract][Full Text] [Related]
6. Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies.
Zeviani M; Gellera C; Pannacci M; Uziel G; Prelle A; Servidei S; DiDonato S
Ann Neurol; 1990 Jul; 28(1):94-7. PubMed ID: 2375642
[TBL] [Abstract][Full Text] [Related]
7. [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
[TBL] [Abstract][Full Text] [Related]
8. Neuro-ophthalmologic manifestations of mitochondrial DNA disorders: chronic progressive external ophthalmoplegia, Kearns-Sayre syndrome, and Leber's hereditary optic neuropathy.
Kosmorsky G; Johns DR
Neurol Clin; 1991 Feb; 9(1):147-61. PubMed ID: 2011107
[No Abstract] [Full Text] [Related]
9. Mapping of heteroplasmic mitochondrial DNA deletions in Kearns-Sayre syndrome.
Nelson I; Degoul F; Obermaier-Kusser B; Romero N; Borrone C; Marsac C; Vayssiere JL; Gerbitz K; Fardeau M; Ponsot G; Lestienne P
Nucleic Acids Res; 1989 Oct; 17(20):8117-24. PubMed ID: 2813058
[TBL] [Abstract][Full Text] [Related]
10. Deletion screening of mitochondrial DNA via multiprimer DNA amplification.
Ernst BP; Wilichowski E; Wagner M; Hanefeld F
Mol Cell Probes; 1994 Feb; 8(1):45-9. PubMed ID: 8028607
[TBL] [Abstract][Full Text] [Related]
11. Detection of platelet mitochondrial DNA deletions in Kearns-Sayre syndrome.
Ota Y; Tanaka M; Sato W; Ohno K; Yamamoto T; Maehara M; Negoro T; Watanabe K; Awaya S; Ozawa T
Invest Ophthalmol Vis Sci; 1991 Sep; 32(10):2667-75. PubMed ID: 1894466
[TBL] [Abstract][Full Text] [Related]
12. [Progressive external ophthalmoplegia and the Kearns-Sayre syndrome: a clinical and molecular study of 6 cases].
Barrientos A; Casademont J; Grau JM; Cardellach F; Montoya J; Estivill X; Urbano-Márquez A; Nunes V
Med Clin (Barc); 1995 Jul; 105(5):180-4. PubMed ID: 7630231
[TBL] [Abstract][Full Text] [Related]
13. Histological, enzymatic and mitochondrial DNA studies in patients with Kearns-Sayre syndrome and chronic progressive external ophthalmoplegia.
Reichmann H; Degoul F; Gold R; Meurers B; Ketelsen UP; Hartmann J; Marsac C; Lestienne P
Eur Neurol; 1991; 31(2):108-13. PubMed ID: 1646110
[TBL] [Abstract][Full Text] [Related]
14. A case of Kearns-Sayre syndrome with autoimmune thyroiditis and possible Hashimoto encephalopathy.
Berio A; Piazzi A
Panminerva Med; 2002 Sep; 44(3):265-9. PubMed ID: 12094144
[TBL] [Abstract][Full Text] [Related]
15. Deletion in blood mitochondrial DNA in Kearns-Sayre syndrome.
Fischel-Ghodsian N; Bohlman MC; Prezant TR; Graham JM; Cederbaum SD; Edwards MJ
Pediatr Res; 1992 Jun; 31(6):557-60. PubMed ID: 1635816
[TBL] [Abstract][Full Text] [Related]
16. Quantification of mitochondrial DNA in heteroplasmic fibroblasts with competitive PCR.
Wang H; Fliegel L; Cass CE; Penn AM; Michalak M; Weiner JH; Lemire BD
Biotechniques; 1994 Jul; 17(1):76-8, 80, 82. PubMed ID: 7946321
[TBL] [Abstract][Full Text] [Related]
17. [Rearrangement of the mitochondrial DNA in Kearns-Sayre syndrome: is it necessary to differentiate deletions from duplications or polymerization?].
Barrientos A; Casademont J; Nunes V
Neurologia; 1996; 11(7):257-60. PubMed ID: 8974426
[No Abstract] [Full Text] [Related]
18. Mitochondrial genome analysis in Kearns-Sayre syndrome.
Lertrit P; Atchaneeyasakul L; Devahastin V; Saechan V; Sangruchi T; Neungton N; Lekhakula S
Southeast Asian J Trop Med Public Health; 1995; 26 Suppl 1():162-5. PubMed ID: 8629098
[TBL] [Abstract][Full Text] [Related]
19. A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA.
Schon EA; Rizzuto R; Moraes CT; Nakase H; Zeviani M; DiMauro S
Science; 1989 Apr; 244(4902):346-9. PubMed ID: 2711184
[TBL] [Abstract][Full Text] [Related]
20. [PCR-based detection of heteroplasmic deleted mitochondrial DNA in Kearns-Sayre syndrome].
Ramírez-Miranda A; Navas-Pérez A; Gurria-Quintana L; Vargas-Ortega J; Murillo-Correa C; Zenteno JC
Arch Soc Esp Oftalmol; 2008 Mar; 83(3):155-9. PubMed ID: 18311673
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
