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25. Clinical, biochemical and molecular genetic features of Leber's hereditary optic neuropathy. Chalmers RM; Schapira AH Biochim Biophys Acta; 1999 Feb; 1410(2):147-58. PubMed ID: 10076023 [TBL] [Abstract][Full Text] [Related]
26. A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology. Mackey D; Howell N Am J Hum Genet; 1992 Dec; 51(6):1218-28. PubMed ID: 1463007 [TBL] [Abstract][Full Text] [Related]
27. 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]
28. 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]
29. [Genetic characteristics of Japanese pedigrees with Leber's hereditary optic neuropathy]. Nakamura M; Yamamoto M Nippon Ganka Gakkai Zasshi; 1994 Apr; 98(4):319-26. PubMed ID: 8165962 [TBL] [Abstract][Full Text] [Related]
30. High frequency of mitochondrial ND4 gene mutation in Japanese pedigrees with Leber hereditary optic neuropathy. Nakamura M; Ara F; Yamada M; Hotta Y; Hayakawa M; Fujiki K; Kanai A; Sakai J; Inoue M; Yamamoto M Jpn J Ophthalmol; 1992; 36(1):56-61. PubMed ID: 1635296 [TBL] [Abstract][Full Text] [Related]
31. A novel locus for Leber congenital amaurosis on chromosome 14q24. Stockton DW; Lewis RA; Abboud EB; Al-Rajhi A; Jabak M; Anderson KL; Lupski JR Hum Genet; 1998 Sep; 103(3):328-33. PubMed ID: 9799089 [TBL] [Abstract][Full Text] [Related]
32. No genetic differences between affected and unaffected members of a German family with Leber's hereditary optic neuropathy (LHON) with respect to ten mtDNA point mutations associated with LHON. Gerbitz KD; Paprotta A; Obermaier-Kusser B; Rietschel M; Zerres K FEBS Lett; 1992 Dec; 314(3):251-5. PubMed ID: 1361456 [TBL] [Abstract][Full Text] [Related]
33. Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation? Chinnery PF; Andrews RM; Turnbull DM; Howell NN Am J Med Genet; 2001 Jan; 98(3):235-43. PubMed ID: 11169561 [TBL] [Abstract][Full Text] [Related]
34. Leber hereditary optic neuropathy in Australia. Mackey DA; Buttery RG Aust N Z J Ophthalmol; 1992 Aug; 20(3):177-84. PubMed ID: 1449769 [TBL] [Abstract][Full Text] [Related]
35. On the many faces of Leber hereditary optic neuropathy. Oostra RJ; Tijmes NT; Cobben JM; Bolhuis PA; van Nesselrooij BP; Houtman WA; de Kok-Nazaruk MM; Bleeker-Wagemakers EM Clin Genet; 1997 Jun; 51(6):388-93. PubMed ID: 9237501 [TBL] [Abstract][Full Text] [Related]
36. The Leber hereditary optic neuropathy 14,484 mutation and X-linked adrenoleukodystrophy: a possible modifier of phenotypic expression? Gray RG; Green SH; Davies P; Alger S; Green A J Inherit Metab Dis; 1999 Aug; 22(6):760-1. PubMed ID: 10472539 [No Abstract] [Full Text] [Related]
37. Genetic heterogeneity of dominant optic atrophy, Kjer type: Identification of a second locus on chromosome 18q12.2-12.3. Kerrison JB; Arnould VJ; Ferraz Sallum JM; Vagefi MR; Barmada MM; Li Y; Zhu D; Maumenee IH Arch Ophthalmol; 1999 Jun; 117(6):805-10. PubMed ID: 10369594 [TBL] [Abstract][Full Text] [Related]
38. Novel mutation in RP2 gene in two brothers with X-linked retinitis pigmentosa and mtDNA mutation of leber hereditary optic neuropathy who showed marked differences in clinical severity. Mashima Y; Saga M; Hiida Y; Imamura Y; Kudoh J; Shimizu N Am J Ophthalmol; 2000 Sep; 130(3):357-9. PubMed ID: 11020419 [TBL] [Abstract][Full Text] [Related]
39. A pedigree of Leber's hereditary optic neuropathy with visual loss in childhood, primarily in girls. Thieme H; Wissinger B; Jandeck C; Christ-Adler M; Kraus H; Kellner U; Foerster MH Graefes Arch Clin Exp Ophthalmol; 1999 Sep; 237(9):714-9. PubMed ID: 10447644 [TBL] [Abstract][Full Text] [Related]
40. 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] [Previous] [Next] [New Search]