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3. Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of mitochondrial DNA deletion in chronic progressive external ophthalmoplegia (CPEO). Kwon MJ; Ki CS; Kim JY; Lee ST; Kim JW; Kang SY Ann Clin Lab Sci; 2011; 41(4):385-9. PubMed ID: 22166510 [TBL] [Abstract][Full Text] [Related]
4. Whole sequence of the mitochondrial DNA genome of Kearns Sayre Syndrome patients: Identification of deletions and variants. Saldaña-Martínez A; Muñoz ML; Pérez-Ramírez G; Montiel-Sosa JF; Montoya J; Emperador S; Ruiz-Pesini E; Cuevas-Covarrubias S; López-Valdez J; Ramírez RG Gene; 2019 Mar; 688():171-181. PubMed ID: 30528267 [TBL] [Abstract][Full Text] [Related]
5. [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]
6. [Molecular biology of mitochondrial DNA and mutations in mitochondrial cytopathy]. Ito T Nihon Rinsho; 1993 Jun; 51(6):1425-8. PubMed ID: 8320824 [TBL] [Abstract][Full Text] [Related]
7. 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]
8. Molecular investigations of mitochondrial deletions: evaluating the usefulness of different genetic tests. Tońska K; Piekutowska-Abramczuk D; Kaliszewska M; Kowalski P; Tańska A; Bartnik E; Pronicka E; Krajewska-Walasek M Gene; 2012 Sep; 506(1):161-5. PubMed ID: 22766397 [TBL] [Abstract][Full Text] [Related]
9. [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]
10. 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]
12. [Disorders of mitochondrial energy metabolism in patients with the Kearns-Sayre syndrome]. Capková M; Tesarová M; Wenchich L; Cerná L; Hansíková H; Hůlková H; Hrubá E; Elleder M; Zeman J Cas Lek Cesk; 2002 Feb; 141(2):51-4. PubMed ID: 11925663 [TBL] [Abstract][Full Text] [Related]
13. [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]
14. 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; 49(5):607-17. PubMed ID: 11357951 [TBL] [Abstract][Full Text] [Related]
15. mtDNA deletions in Kearns-Sayre. Johns DR Neurology; 1990 Aug; 40(8):1322-3. PubMed ID: 2381550 [No Abstract] [Full Text] [Related]
16. A case of Kearns-Sayre syndrome with two novel deletions (9.768 and 7.253 kb) of the mtDNA associated with the common deletion in blood leukocytes, buccal mucosa and hair follicles. Mkaouar-Rebai E; Chamkha I; Kammoun T; Chabchoub I; Aloulou H; Fendri N; Hachicha M; Fakhfakh F Mitochondrion; 2010 Aug; 10(5):449-55. PubMed ID: 20388556 [TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. 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]
20. [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] [Next] [New Search]