146 related articles for article (PubMed ID: 10631164)
1. Predominance of the T14484C mutation in French-Canadian families with Leber hereditary optic neuropathy is due to a founder effect.
Macmillan C; Johns TA; Fu K; Shoubridge EA
Am J Hum Genet; 2000 Jan; 66(1):332-5. PubMed ID: 10631164
[No Abstract] [Full Text] [Related]
2. A "Fille du Roy" introduced the T14484C Leber hereditary optic neuropathy mutation in French Canadians.
Laberge AM; Jomphe M; Houde L; Vezina H; Tremblay M; Desjardins B; Labuda D; St-Hilaire M; Macmillan C; Shoubridge EA; Brais B
Am J Hum Genet; 2005 Aug; 77(2):313-7. PubMed ID: 15954041
[TBL] [Abstract][Full Text] [Related]
3. Pedigree analysis of French Canadian families with T14484C Leber's hereditary optic neuropathy.
Macmillan C; Kirkham T; Fu K; Allison V; Andermann E; Chitayat D; Fortier D; Gans M; Hare H; Quercia N; Zackon D; Shoubridge EA
Neurology; 1998 Feb; 50(2):417-22. PubMed ID: 9484365
[TBL] [Abstract][Full Text] [Related]
4. mtDNA analysis of Leber hereditary optic neuropathy associated with spondyloepiphyseal dysplasia.
Howell N; Kubacka I; McDonough B; Hodess AB; Harter DH
Am J Med Genet; 2001 May; 100(3):219-22. PubMed ID: 11343307
[TBL] [Abstract][Full Text] [Related]
5. Intrafamilial variation in Leber hereditary optic neuropathy revealed by direct mutation analysis.
Cavelier L; Gyllensten U; Dahl N
Clin Genet; 1993 Feb; 43(2):69-72. PubMed ID: 8448903
[TBL] [Abstract][Full Text] [Related]
6. Leber's hereditary optic neuropathy in Indonesia: two families with the mtDNA 11778G>A and 14484T>C mutations.
Sudoyo H; Sitepu M; Malik S; Poesponegoro HD; Marzuki S
Hum Mutat; 1998; Suppl 1():S271-4. PubMed ID: 9452107
[No Abstract] [Full Text] [Related]
7. Detection of mitochondrial DNA nucleotide 11778 point mutation of Leber hereditary optic neuropathy from archival stained histopathological preparations.
Mitani I; Miyazaki S; Hayashi T; Fukidome Y; Shimo-oku M
Acta Ophthalmol Scand; 1998 Feb; 76(1):14-9. PubMed ID: 9541429
[TBL] [Abstract][Full Text] [Related]
8. Single-cell analysis of intercellular heteroplasmy of mtDNA in Leber hereditary optic neuropathy.
Kobayashi Y; Sharpe H; Brown N
Am J Hum Genet; 1994 Jul; 55(1):206-9. PubMed ID: 8023848
[No Abstract] [Full Text] [Related]
9. Leber's hereditary optic neuropathy: implications of the sex ratio for linkage studies in families with the 3460 ND1 mutation.
Black GC; Craig IW; Oostra RJ; Norby S; Rosenberg T; Morten K; Laborde A; Poulton J
Eye (Lond); 1995; 9 ( Pt 4)():513-6. PubMed ID: 7498577
[TBL] [Abstract][Full Text] [Related]
10. Mitochondrial DNA mutation in an Italian family with Leber hereditary optic neuropathy.
Carducci C; Leuzzi V; Scuderi M; De Negri AM; Gabrieli CB; Antonozzi I; Pontecorvi A
Hum Genet; 1991 Oct; 87(6):725-7. PubMed ID: 1937476
[TBL] [Abstract][Full Text] [Related]
11. When does bilateral optic atrophy become Leber hereditary optic neuropathy?
Howell N; Halvorson S; Burns J; McCullough DA; Paulton J
Am J Hum Genet; 1993 Oct; 53(4):959-63. PubMed ID: 8213825
[No Abstract] [Full Text] [Related]
12. Features of mtDNA mutation patterns in European pedigrees and sporadic cases with Leber hereditary optic neuropathy.
Obermaier-Kusser B; Lorenz B; Schubring S; Paprotta A; Zerres K; Meitinger T; Meire F; Cochaux P; Blankenagel A; Kommerell G
Am J Hum Genet; 1994 Nov; 55(5):1063-6. PubMed ID: 7977345
[No Abstract] [Full Text] [Related]
13. The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy.
Chinnery PF; Brown DT; Andrews RM; Singh-Kler R; Riordan-Eva P; Lindley J; Applegarth DA; Turnbull DM; Howell N
Brain; 2001 Jan; 124(Pt 1):209-18. PubMed ID: 11133798
[TBL] [Abstract][Full Text] [Related]
14. Molecular genetic analysis of a sporadic case of Leber hereditary optic neuropathy.
Howell N; McCullough D; Bodis-Wollner I
Am J Hum Genet; 1992 Feb; 50(2):443-6. PubMed ID: 1734726
[No Abstract] [Full Text] [Related]
15. Tissue distribution of the ND4/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathy.
Juvonen V; Nikoskelainen E; Lamminen T; Penttinen M; Aula P; Savontaus ML
Hum Mutat; 1997; 9(5):412-7. PubMed ID: 9143920
[TBL] [Abstract][Full Text] [Related]
16. Simultaneous occurrence of the 11778 (ND4) and the 9438 (COX III) mtDNA mutations in Leber hereditary optic neuropathy: molecular, biochemical, and clinical findings.
Oostra RJ; Van den Bogert C; Nijtmans LG; van Galen MJ; Zwart R; Bolhuis PA; Bleeker-Wagemakers EM
Am J Hum Genet; 1995 Oct; 57(4):954-7. PubMed ID: 7573056
[No Abstract] [Full Text] [Related]
17. mtDNA heteroplasmy in Leber hereditary optic neuroretinopathy.
Cormier V; Rötig A; Geny C; Cesaro P; Dufier JL; Munnich A
Am J Hum Genet; 1991 Apr; 48(4):813-4. PubMed ID: 2064658
[No Abstract] [Full Text] [Related]
18. Leber's hereditary optic neuropathy. Is it a disease of northern Europe and Asia?
Mackey DA
Ophthalmic Paediatr Genet; 1993 Sep; 14(3):105-7. PubMed ID: 8115116
[No Abstract] [Full Text] [Related]
19. Three subgroups of patients from the United Kingdom with Leber hereditary optic neuropathy.
Mackey DA
Eye (Lond); 1994; 8 ( Pt 4)():431-6. PubMed ID: 7821467
[TBL] [Abstract][Full Text] [Related]
20. De novo 14484 mitochondrial DNA mutation in monozygotic twins discordant for Leber's hereditary optic neuropathy.
Biousse V; Brown MD; Newman NJ; Allen JC; Rosenfeld J; Meola G; Wallace DC
Neurology; 1997 Oct; 49(4):1136-8. PubMed ID: 9339703
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]