- ►nih.gov [PDF] - Free from Publisher K Tsao, PA Aitken, DR Johns - British Journal of Ophthalmology, 1999 - bjo.bmj.com RESULTS The association between smoking and disease penetrance was significant
in all subgroups (p values from p=0.0009 to p=0.0001, 95% confidence intervals).
Disease penetrance was higher in males than females. The association was ... Cited by 52 - Related articles - BL Direct - All 7 versions
JB Kerrison, NR Miller, FC Hsu, TH Beaty, … - American journal of ophthalmology, 2000 - Elsevier RESULTS: For male probands (67 sibships), the recurrence risk within a sibship
was 10.3% (eight of 78) for males and 3.1% (three of 98) for females. For female
probands (13 sibships), the recurrence risk within a sibship was 17.6% ... Cited by 57 - Related articles - BL Direct - All 9 versions
- ►nih.gov [PDF] RM Chalmers, MB Davis, MG Sweeney, NW … - American journal of human genetics, 1996 - pubmedcentral.nih.gov Pedigree analysis of British families with Leber heredi- tary optic neuropathy
(LHON) closely fits a model in which a pathogenic mtDNA mutation interacts with
an X-linked visual loss susceptibility locus (VLSL). This model predicts ... Cited by 49 - Related articles - BL Direct - All 6 versions
- ►oxfordjournals.org [PDF] RM Chalmers, AE Harding - Brain, 1996 - Oxford Univ Press Summary Fifty patients with Leber's hereditary optic neuropathy (LHON) with an
associated pathogenic mutation of mitochondrial DNA (mtDNA) at base pair (bp)
11778 (35 cases), 14484 (eight cases) or 3460 (seven cases) were matched ... Cited by 47 - Related articles - BL Direct - All 3 versions
AA Sadun, V Carelli, SR Salomao, A … - American journal of ophthalmology, 2003 - Elsevier These results, and portions of the figures and tables, have been previously
presented at the 2002 American Ophthalmological Association (AOS) and for
publication by the Transactions of the American Ophthalmological Society, ... Cited by 43 - Related articles - All 6 versions
HR Cock, JM Cooper, AHV Schapira - Journal of the neurological sciences, 1999 - Elsevier Complex I is the largest of the mitochondrial respiratory chain proteins, and
contains subunits encoded by both mitochondrial and nuclear genomes. Leber's
hereditary optic neuropathy has been clearly linked to mutations of ... Cited by 38 - Related articles - All 5 versions
- ►bmj.com [PDF] HY Handoko, PJ Wirapati, HA Sudoyo, M … - British Medical Journal, 1998 - jmg.bmj.com Abstract Leber's hereditary optic neuropathy (LHON) is a maternally inherited
degen- erative disorder characterised by an acute or subacute optic nerve
degeneration resulting in visual failure. Mitochondrial DNA mutations have ... Cited by 18 - Related articles - BL Direct - All 6 versions
DR Johns, KH Smith, NR Miller, ME Sulewski, … - Archives of Ophthalmology, 1993 - archopht.highwire.org Objective: Leber's hereditary optic neuropathy is a ma- ternally inherited form
of visual loss that is associated with several mitochondrial DNA mutations.
These mitochon- drial DNA mutations are not the sole determinants of vi- ... Cited by 29 - Related articles - BL Direct - All 5 versions
V Carelli, A Ghelli, M Ratta, E Bacchilega, S … - Neurology, 1997 - AAN Enterprises To clarify the bioenergetic relevance of mtDNA mutations in Leber's hereditary
optic neuropathy (LHON), we investigated affected individuals and healthy
carriers from six Italian LHON families harboring the 11778/ND4 and the ... Cited by 75 - Related articles - BL Direct - All 3 versions
