scholarly article | Q13442814 |
P2093 | author name string | Li Yang | |
Min-Xin Guan | |||
Jia Qu | |||
Juanjuan Zhang | |||
Xiangtian Zhou | |||
Yi Tong | |||
Fuxin Zhao | |||
Constance E West | |||
Yan-Hong Sun | |||
Qi-Ping Wei | |||
Wansi Cai | |||
P2860 | cites work | Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome | Q24546324 |
Mitochondrial genome variation in eastern Asia and the peopling of Japan | Q24562348 | ||
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background | Q24678122 | ||
Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation | Q24679168 | ||
MITOMAP: a human mitochondrial genome database--2004 update | Q24795655 | ||
Sequence and organization of the human mitochondrial genome | Q27860659 | ||
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy | Q28292821 | ||
Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy | Q28300484 | ||
Pattern of organization of human mitochondrial pseudogenes in the nuclear genome | Q28768380 | ||
Sequence and gene organization of mouse mitochondrial DNA | Q29618227 | ||
Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy | Q33904852 | ||
Leber hereditary optic neuropathy | Q34118893 | ||
Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations | Q34386660 | ||
LHON and other optic nerve atrophies: the mitochondrial connection | Q35183311 | ||
Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. | Q35238441 | ||
Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation | Q35643475 | ||
Cosegregation of the ND4 G11696A mutation with the LHON-associated ND4 G11778A mutation in a four generation Chinese family | Q36054550 | ||
The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J. | Q40739962 | ||
Leber hereditary optic neuropathy: mitochondrial mutations and degeneration of the optic nerve | Q41678616 | ||
Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy. | Q42590475 | ||
The complete nucleotide sequence of the Rattus norvegicus mitochondrial genome: cryptic signals revealed by comparative analysis between vertebrates | Q42640446 | ||
The novel A4435G mutation in the mitochondrial tRNAMet may modulate the phenotypic expression of the LHON-associated ND4 G11778A mutation | Q46907826 | ||
The complete nucleotide sequence of the Xenopus laevis mitochondrial genome | Q48376185 | ||
The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation | Q48706853 | ||
A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies | Q48836050 | ||
Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation. | Q50474850 | ||
The mitochondrial tRNA(Thr) A15951G mutation may influence the phenotypic expression of the LHON-associated ND4 G11778A mutation in a Chinese family. | Q51809765 | ||
Mitochondrial ND5 T12338C, tRNA(Cys) T5802C, and tRNA(Thr) G15927A variants may have a modifying role in the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese pedigrees. | Q52586132 | ||
Mitochondria and Leber's hereditary optic neuropathy | Q68799656 | ||
Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber's hereditary optic neuropathy | Q74484996 | ||
Mitochondrial encephalomyopathies: gene mutation | Q75218221 | ||
Only male matrilineal relatives with Leber's hereditary optic neuropathy in a large Chinese family carrying the mitochondrial DNA G11778A mutation | Q81395960 | ||
Clinical evaluation and mitochondrial DNA sequence analysis in three Chinese families with Leber's hereditary optic neuropathy | Q81751777 | ||
P433 | issue | 3 | |
P921 | main subject | hereditary optic neuropathy | Q55789244 |
P304 | page(s) | 558-564.e3 | |
P577 | publication date | 2009-01-22 | |
P1433 | published in | Ophthalmology | Q7098109 |
P1476 | title | Extremely low penetrance of Leber's hereditary optic neuropathy in 8 Han Chinese families carrying the ND4 G11778A mutation | |
P478 | volume | 116 |
Q46515103 | Biochemical evidence for a mitochondrial genetic modifier in the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation. |
Q35924271 | Complete mitochondrial DNA sequence analysis in two southern Chinese pedigrees with Leber hereditary optic neuropathy revealed secondary mutations along with the primary mutation |
Q34007647 | Failures in mitochondrial tRNAMet and tRNAGln metabolism caused by the novel 4401A>G mutation are involved in essential hypertension in a Han Chinese Family |
Q34735172 | Leber's hereditary optic neuropathy affects only female matrilineal relatives in two Chinese families |
Q34000675 | Leber's hereditary optic neuropathy is associated with mitochondrial ND1 T3394C mutation |
Q37445425 | Leber's hereditary optic neuropathy is associated with mitochondrial ND6 T14502C mutation |
Q36089268 | Leber's hereditary optic neuropathy is associated with the T3866C mutation in mitochondrial ND1 gene in three Han Chinese Families |
Q33679205 | Low penetrance of Leber's hereditary optic neuropathy in ten Han Chinese families carrying the ND6 T11484C mutation |
Q46249016 | Mitochondrial C4375T mutation might be a molecular risk factor in a maternal Chinese hypertensive family under haplotype C. |
Q42944161 | Mitochondrial ND6 T14502C variant may modulate the phenotypic expression of LHON-associated G11778A mutation in four Chinese families |
Q45874419 | Mitochondrial genetics and therapeutic overview of Leber's hereditary optic neuropathy. |
Q40682178 | Mitochondrial haplogroup D4j specific variant m.11696G > a(MT-ND4) may increase the penetrance and expressivity of the LHON-associated m.11778G > a mutation in Chinese pedigrees |
Q42930492 | Mitochondrial haplogroup M9a specific variant ND1 T3394C may have a modifying role in the phenotypic expression of the LHON-associated ND4 G11778A mutation |
Q47161404 | Mitochondrial mutations in 12S rRNA and 16S rRNA presenting as chronic progressive external ophthalmoplegia (CPEO) plus: A case report |
Q92654743 | Mitochondrial tRNAAla 5601C>T variant may affect the clinical expression of the LHON‑related ND4 11778G>A mutation in a family |
Q34007628 | Mitochondrial transfer RNAMet 4435A>G mutation is associated with maternally inherited hypertension in a Chinese pedigree |
Q90257792 | Systematic analysis of a mitochondrial disease-causing ND6 mutation in mitochondrial deficiency |
Q36183037 | The role of mitochondrial tRNA mutations in lung cancer |
Q35406187 | The tRNAMet 4435A>G mutation in the mitochondrial haplogroup G2a1 is responsible for maternally inherited hypertension in a Chinese pedigree |
Q43741808 | Variations in mitochondrial tRNA(Thr) gene may not be associated with coronary heart disease |
Q34005399 | Very high penetrance and occurrence of Leber's hereditary optic neuropathy in a large Han Chinese pedigree carrying the ND4 G11778A mutation |
Q33729752 | Very low penetrance of Leber's hereditary optic neuropathy in five Han Chinese families carrying the ND1 G3460A mutation |
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