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Results: 1 to 20 of 111

1.

A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.

Huoponen K, Vilkki J, Aula P, Nikoskelainen EK, Savontaus ML.

Am J Hum Genet. 1991 Jun;48(6):1147-53.

PMID:
1674640
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy.

Huoponen K, Lamminen T, Juvonen V, Aula P, Nikoskelainen E, Savontaus ML.

Hum Genet. 1993 Oct;92(4):379-84.

PMID:
7901141
[PubMed - indexed for MEDLINE]
3.

Analysis of mitochondrial ND4 gene DNA sequence in Finnish families with Leber hereditary optic neuroretinopathy.

Huoponen K, Vilkki J, Savontaus ML, Aula P, Nikoskelainen EK.

Genomics. 1990 Nov;8(3):583-5.

PMID:
2286378
[PubMed - indexed for MEDLINE]
4.

mtDNA haplotype analysis in Finnish families with leber hereditary optic neuroretinopathy.

Lamminen T, Huoponen K, Sistonen P, Juvonen V, Lahermo P, Aula P, Nikoskelainen E, Savontaus ML.

Eur J Hum Genet. 1997 Sep-Oct;5(5):271-9.

PMID:
9412783
[PubMed - indexed for MEDLINE]
5.

Genetic heterogeneity in Leber hereditary optic neuroretinopathy revealed by mitochondrial DNA polymorphism.

Vilkki J, Savontaus ML, Nikoskelainen EK.

Am J Hum Genet. 1989 Aug;45(2):206-11.

PMID:
2757028
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Segregation of mitochondrial genomes in a heteroplasmic lineage with Leber hereditary optic neuroretinopathy.

Vilkki J, Savontaus ML, Nikoskelainen EK.

Am J Hum Genet. 1990 Jul;47(1):95-100.

PMID:
1971999
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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, et al.

Jpn J Ophthalmol. 1992;36(1):56-61.

PMID:
1635296
[PubMed - indexed for MEDLINE]
8.

Mitochondrial DNA mutation and heteroplasmy in type I Leber hereditary optic neuropathy.

Zhu DP, Economou EP, Antonarakis SE, Maumenee IH.

Am J Med Genet. 1992 Jan 15;42(2):173-9.

PMID:
1346348
[PubMed - indexed for MEDLINE]
9.

Mitochondrial DNA polymorphism in Finnish families with Leber's hereditary optic neuroretinopathy.

Vilkki J, Savontaus ML, Kalimo H, Nikoskelainen EK.

Hum Genet. 1989 Jun;82(3):208-12.

PMID:
2567271
[PubMed - indexed for MEDLINE]
10.

Quantification of point mutations associated with Leber hereditary optic neuroretinopathy by solid-phase minisequencing.

Juvonen V, Huoponen K, Syvänen AC, Nikoskelainen E, Savontaus ML.

Hum Genet. 1994 Jan;93(1):16-20.

PMID:
8270249
[PubMed - indexed for MEDLINE]
11.

Time-resolved fluorometry in the diagnosis of Leber hereditary optic neuroretinopathy.

Huoponen K, Juvonen V, Iitiä A, Dahlen P, Siitari H, Aula P, Nikoskelainen E, Savontaus ML.

Hum Mutat. 1994;3(1):29-36.

PMID:
8118464
[PubMed - indexed for MEDLINE]
12.

Detection of the G to A mitochondrial DNA mutation at position 11778 in German families with Leber's hereditary optic neuropathy.

Kormann BA, Schuster H, Berninger TA, Leo-Kottler B.

Hum Genet. 1991 Nov;88(1):98-100.

PMID:
1959931
[PubMed - indexed for MEDLINE]
13.

High frequency of mutations at position 11778 in mitochondrial ND4 gene in Japanese families with Leber's hereditary optic neuropathy.

Mashima Y, Hiida Y, Oguchi Y, Kudoh J, Shimizu N.

Hum Genet. 1993 Aug;92(1):101-2.

PMID:
8103501
[PubMed - indexed for MEDLINE]
14.

Pitfalls in the molecular genetic diagnosis of Leber hereditary optic neuropathy (LHON).

Johns DR, Neufeld MJ.

Am J Hum Genet. 1993 Oct;53(4):916-20.

PMID:
8213820
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Cytochrome c oxidase mutations in Leber hereditary optic neuropathy.

Johns DR, Neufeld MJ.

Biochem Biophys Res Commun. 1993 Oct 29;196(2):810-5.

PMID:
8240356
[PubMed - indexed for MEDLINE]
16.

Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees.

Howell N, Bindoff LA, McCullough DA, Kubacka I, Poulton J, Mackey D, Taylor L, Turnbull DM.

Am J Hum Genet. 1991 Nov;49(5):939-50.

PMID:
1928099
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Homoplasmic and exclusive ND4 gene mutation in Japanese pedigrees with Leber's disease.

Nakamura M, Fujiwara Y, Yamamoto M.

Invest Ophthalmol Vis Sci. 1993 Mar;34(3):488-95.

PMID:
8449667
[PubMed - indexed for MEDLINE]
Free Article
18.

Molecular genetics of Leber's hereditary optic neuropathy: study of a six-generation family from Western Australia.

Sudoyo H, Marzuki S, Mastaglia F, Carroll W.

J Neurol Sci. 1992 Mar;108(1):7-17.

PMID:
1352537
[PubMed - indexed for MEDLINE]
19.

An example of Leber hereditary optic neuropathy not involving a mutation in the mitochondrial ND4 gene.

Howell N, McCullough D.

Am J Hum Genet. 1990 Oct;47(4):629-34.

PMID:
2121024
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy.

Brown MD, Voljavec AS, Lott MT, Torroni A, Yang CC, Wallace DC.

Genetics. 1992 Jan;130(1):163-73.

PMID:
1732158
[PubMed - indexed for MEDLINE]
Free PMC Article

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