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8. Progressive external ophthalmoplegia and multiple mitochondrial DNA deletions. Van Goethem G; Martin JJ; Van Broeckhoven C Acta Neurol Belg; 2002 Mar; 102(1):39-42. PubMed ID: 12094562 [TBL] [Abstract][Full Text] [Related]
9. Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy. Bohlega S; Tanji K; Santorelli FM; Hirano M; al-Jishi A; DiMauro S Neurology; 1996 May; 46(5):1329-34. PubMed ID: 8628476 [TBL] [Abstract][Full Text] [Related]
10. Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia. Moslemi AR; Melberg A; Holme E; Oldfors A Ann Neurol; 1996 Nov; 40(5):707-13. PubMed ID: 8957011 [TBL] [Abstract][Full Text] [Related]
11. Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and physical mapping on chromosome 12. Engle EC; Marondel I; Houtman WA; de Vries B; Loewenstein A; Lazar M; Ward DC; Kucherlapati R; Beggs AH Am J Hum Genet; 1995 Nov; 57(5):1086-94. PubMed ID: 7485159 [TBL] [Abstract][Full Text] [Related]
12. Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance. Sommerville EW; Dalla Rosa I; Rosenberg MM; Bruni F; Thompson K; Rocha M; Blakely EL; He L; Falkous G; Schaefer AM; Yu-Wai-Man P; Chinnery PF; Hedstrom L; Spinazzola A; Taylor RW; Gorman GS Clin Genet; 2020 Feb; 97(2):276-286. PubMed ID: 31600844 [TBL] [Abstract][Full Text] [Related]
13. Mitochondrial encephalomyopathy with autosomal dominant inheritance: a clinical and genetic entity of mitochondrial diseases. Kawai H; Akaike M; Yokoi K; Nishida Y; Kunishige M; Mine H; Saito S Muscle Nerve; 1995 Jul; 18(7):753-60. PubMed ID: 7783765 [TBL] [Abstract][Full Text] [Related]
14. Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia. Suomalainen A; Majander A; Haltia M; Somer H; Lönnqvist J; Savontaus ML; Peltonen L J Clin Invest; 1992 Jul; 90(1):61-6. PubMed ID: 1634620 [TBL] [Abstract][Full Text] [Related]
15. Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease. Zeviani M; Bresolin N; Gellera C; Bordoni A; Pannacci M; Amati P; Moggio M; Servidei S; Scarlato G; DiDonato S Am J Hum Genet; 1990 Dec; 47(6):904-14. PubMed ID: 1978558 [TBL] [Abstract][Full Text] [Related]
16. Model-based linkage analyses confirm chromosome 19q13.3 as a susceptibility locus for intracranial aneurysm. Mineharu Y; Inoue K; Inoue S; Yamada S; Nozaki K; Hashimoto N; Koizumi A Stroke; 2007 Apr; 38(4):1174-8. PubMed ID: 17322081 [TBL] [Abstract][Full Text] [Related]
17. A novel locus of ectodermal dysplasia maps to chromosome 10q24.32-q25.1. Rafiq MA; Faiyaz-Ul-Haque M; Ud Din MA; Malik S; Sohail M; Anwar M; Haque S; Paterson AD; Tsui LC; Ahmad W J Invest Dermatol; 2005 Feb; 124(2):338-42. PubMed ID: 15675952 [TBL] [Abstract][Full Text] [Related]
18. Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Spelbrink JN; Li FY; Tiranti V; Nikali K; Yuan QP; Tariq M; Wanrooij S; Garrido N; Comi G; Morandi L; Santoro L; Toscano A; Fabrizi GM; Somer H; Croxen R; Beeson D; Poulton J; Suomalainen A; Jacobs HT; Zeviani M; Larsson C Nat Genet; 2001 Jul; 28(3):223-31. PubMed ID: 11431692 [TBL] [Abstract][Full Text] [Related]
19. CFEOM3: a new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3. Doherty EJ; Macy ME; Wang SM; Dykeman CP; Melanson MT; Engle EC Invest Ophthalmol Vis Sci; 1999 Jul; 40(8):1687-94. PubMed ID: 10393037 [TBL] [Abstract][Full Text] [Related]
20. Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter. Hirano M; Garcia-de-Yebenes J; Jones AC; Nishino I; DiMauro S; Carlo JR; Bender AN; Hahn AF; Salberg LM; Weeks DE; Nygaard TG Am J Hum Genet; 1998 Aug; 63(2):526-33. PubMed ID: 9683610 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]