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Items: 1 to 20 of 299

1.

Proportion of 11778 mutant mitochondrial DNA and clinical expression in a thai population with leber hereditary optic neuropathy.

Chuenkongkaew WL, Suphavilai R, Vaeusorn L, Phasukkijwatana N, Lertrit P, Suktitipat B.

J Neuroophthalmol. 2005 Sep;25(3):173-5.

PMID:
16148621
2.

Leber's hereditary optic neuropathy in Thailand.

Chuenkongkaew WL, Lertrit P, Poonyathalang A, Sura T, Ruangvaravate N, Atchaneeyasakul L, Suphavilai R.

Jpn J Ophthalmol. 2001 Nov-Dec;45(6):665-8.

PMID:
11754915
3.

Mitochondrial DNA haplogroup distribution in pedigrees of Southeast Asian G11778A Leber hereditary optic neuropathy.

Tharaphan P, Chuenkongkaew WL, Luangtrakool K, Sanpachudayan T, Suktitipat B, Suphavilai R, Srisawat C, Sura T, Lertrit P.

J Neuroophthalmol. 2006 Dec;26(4):264-7.

PMID:
17204919
4.

Mitochondrial haplogroup background may influence Southeast Asian G11778A Leber hereditary optic neuropathy.

Kaewsutthi S, Phasukkijwatana N, Joyjinda Y, Chuenkongkaew W, Kunhapan B, Tun AW, Suktitipat B, Lertrit P.

Invest Ophthalmol Vis Sci. 2011 Jul 1;52(7):4742-8. doi: 10.1167/iovs.10-5816.

PMID:
21398275
5.

Leber's hereditary optic neuropathy--the spectrum of mitochondrial DNA mutations in Chinese patients.

Yen MY, Wang AG, Chang WL, Hsu WM, Liu JH, Wei YH.

Jpn J Ophthalmol. 2002 Jan-Feb;46(1):45-51.

PMID:
11853713
6.

Segregation patterns and heteroplasmy prevalence in Leber's hereditary optic neuropathy.

Jacobi FK, Leo-Kottler B, Mittelviefhaus K, Zrenner E, Meyer J, Pusch CM, Wissinger B.

Invest Ophthalmol Vis Sci. 2001 May;42(6):1208-14.

PMID:
11328729
7.

Transmission of heteroplasmic G11778A in extensive pedigrees of Thai Leber hereditary optic neuropathy.

Phasukkijwatana N, Chuenkongkaew WL, Suphavilai R, Luangtrakool K, Kunhapan B, Lertrit P.

J Hum Genet. 2006;51(12):1110-7. Epub 2006 Oct 28.

PMID:
17072496
8.

Leber's hereditary optic neuropathy is associated with the mitochondrial ND4 G11696A mutation in five Chinese families.

Zhou X, Wei Q, Yang L, Tong Y, Zhao F, Lu C, Qian Y, Sun Y, Lu F, Qu J, Guan MX.

Biochem Biophys Res Commun. 2006 Feb 3;340(1):69-75. Epub 2005 Dec 6.

PMID:
16364244
9.

Clinical features of Japanese Leber's hereditary optic neuropathy with 11778 mutation of mitochondrial DNA.

Hotta Y, Fujiki K, Hayakawa M, Nakajima A, Kanai A, Mashima Y, Hiida Y, Shinoda K, Yamada K, Oguchi Y, et al.

Jpn J Ophthalmol. 1995;39(1):96-108.

PMID:
7643491
10.

Clinical, genetic, and biochemical characterization of a Leber hereditary optic neuropathy family containing both the 11778 and 14484 primary mutations.

Brown MD, Allen JC, Van Stavern GP, Newman NJ, Wallace DC.

Am J Med Genet. 2001 Dec 15;104(4):331-8.

PMID:
11754070
11.

Segregation of the ND4/11778 and the ND1/3460 mutations in four heteroplasmic LHON families.

Puomila A, Viitanen T, Savontaus ML, Nikoskelainen E, Huoponen K.

J Neurol Sci. 2002 Dec 15;205(1):41-5.

PMID:
12409182
12.

Rapid quantification of the heteroplasmy of mutant mitochondrial DNAs in Leber's hereditary optic neuropathy using the Invader technology.

Mashima Y, Nagano M, Funayama T, Zhang Q, Egashira T, Kudho J, Shimizu N, Oguchi Y.

Clin Biochem. 2004 Apr;37(4):268-76.

PMID:
15003728
13.

Influence of mutation type on clinical expression of Leber hereditary optic neuropathy.

Spruijt L, Kolbach DN, de Coo RF, Plomp AS, Bauer NJ, Smeets HJ, de Die-Smulders CE.

Am J Ophthalmol. 2006 Apr;141(4):676-82.

PMID:
16564802
14.

Clinical evaluation and mitochondrial DNA sequence analysis in three Chinese families with Leber's hereditary optic neuropathy.

Qian Y, Zhou X, Hu Y, Tong Y, Li R, Lu F, Yang H, Mo JQ, Qu J, Guan MX.

Biochem Biophys Res Commun. 2005 Jul 1;332(2):614-21.

PMID:
15896721
15.

[Detection of mtDNA*LHON G11778A mutation by real-time polymerase chain reaction using TaqMan-MGB probe technology].

Li YM, Wang JY, Chen Y, Shao JB, Wang J, Tong Y.

Zhonghua Yan Ke Za Zhi. 2006 Aug;42(8):728-32. Chinese.

PMID:
17081446
16.

Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy.

Howell N, Oostra RJ, Bolhuis PA, Spruijt L, Clarke LA, Mackey DA, Preston G, Herrnstadt C.

Am J Hum Genet. 2003 Jun;72(6):1460-9. Epub 2003 May 6.

17.

[Penetrance of Leber hereditary optic neuropathy individuals with mitochondrial DNA 11778 mutation in the Shanxi area].

Zheng ML, Zhang GL, Hua AL, Zhang YL.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Apr;21(2):166-7. Chinese.

PMID:
15079802
18.

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 22;98(3):235-43.

PMID:
11169561
19.

Lightning strikes twice: Leber hereditary optic neuropathy families with two pathogenic mtDNA mutations.

Howell N, Miller NR, Mackey DA, Arnold A, Herrnstadt C, Williams IM, Kubacka I.

J Neuroophthalmol. 2002 Dec;22(4):262-9.

PMID:
12464729
20.

Molecular epidemiology of mtDNA mutations in 903 Chinese families suspected with Leber hereditary optic neuropathy.

Jia X, Li S, Xiao X, Guo X, Zhang Q.

J Hum Genet. 2006;51(10):851-6. Epub 2006 Sep 14.

PMID:
16972023
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