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Items: 1 to 20 of 455

1.

X-Inactivation patterns in females harboring mtDNA mutations that cause Leber hereditary optic neuropathy.

Hudson G, Carelli V, Horvath R, Zeviani M, Smeets HJ, Chinnery PF.

Mol Vis. 2007 Dec 21;13:2339-43.

PMID:
18199976
2.

X-inactivation pattern in multiple tissues from two Leber's hereditary optic neuropathy (LHON) patients.

Pegoraro E, Vettori A, Valentino ML, Molon A, Mostacciuolo ML, Howell N, Carelli V.

Am J Med Genet A. 2003 May 15;119A(1):37-40.

PMID:
12707956
3.

No evidence for 'skewed' inactivation of the X-chromosome as cause of Leber's hereditary optic neuropathy in female carriers.

Oostra RJ, Kemp S, Bolhuis PA, Bleeker-Wagemakers EM.

Hum Genet. 1996 Apr;97(4):500-5.

PMID:
8834251
4.

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
5.

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

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

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2001 Dec;18(6):441-3. Chinese.

PMID:
11774211
6.

Skewed X chromosome inactivation and breast and ovarian cancer status: evidence for X-linked modifiers of BRCA1.

Lose F, Duffy DL, Kay GF, Kedda MA, Spurdle AB; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer; Australian Ovarian Cancer Study Management Group.

J Natl Cancer Inst. 2008 Nov 5;100(21):1519-29. doi: 10.1093/jnci/djn345. Epub 2008 Oct 28.

PMID:
18957670
7.

Genetic analysis of Japanese pedigrees with Leber's hereditary optic neuropathy.

Nakamura M.

Kobe J Med Sci. 1993 Dec;39(5-6):171-82.

PMID:
8182918
8.

mtDNA m.3635G>A may be classified as a common primary mutation for Leber hereditary optic neuropathy in the Chinese population.

Jia X, Li S, Wang P, Guo X, Zhang Q.

Biochem Biophys Res Commun. 2010 Dec 10;403(2):237-41. doi: 10.1016/j.bbrc.2010.11.017. Epub 2010 Nov 11.

PMID:
21074518
9.

[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
10.

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.

11.

Mitochondrial abnormalities in patients with LHON-like optic neuropathies.

Abu-Amero KK, Bosley TM.

Invest Ophthalmol Vis Sci. 2006 Oct;47(10):4211-20.

PMID:
17003408
12.

Male prevalence of acquired color vision defects in asymptomatic carriers of Leber's hereditary optic neuropathy.

Ventura DF, Gualtieri M, Oliveira AG, Costa MF, Quiros P, Sadun F, de Negri AM, Salomão SR, Berezovsky A, Sherman J, Sadun AA, Carelli V.

Invest Ophthalmol Vis Sci. 2007 May;48(5):2362-70.

PMID:
17460303
13.

Leber hereditary optic neuropathy: clinical and molecular genetic findings.

Huoponen K.

Neurogenetics. 2001 Jul;3(3):119-25. Review.

PMID:
11523562
14.

[Sudden blindness: consider Leber's hereditary optic neuropathy].

Schieving JH, de Vries BB, Hol F, Stroink H.

Ned Tijdschr Geneeskd. 2008 Oct 25;152(43):2313-6. Dutch.

PMID:
19024058
15.

Low penetrance of the 14484 LHON mutation when it arises in a non-haplogroup J mtDNA background.

Howell N, Herrnstadt C, Shults C, Mackey DA.

Am J Med Genet A. 2003 Jun 1;119A(2):147-51.

PMID:
12749053
16.

Mitochondrial DNA haplogroups M7b1'2 and M8a affect clinical expression of leber hereditary optic neuropathy in Chinese families with the m.11778G-->a mutation.

Ji Y, Zhang AM, Jia X, Zhang YP, Xiao X, Li S, Guo X, Bandelt HJ, Zhang Q, Yao YG.

Am J Hum Genet. 2008 Dec;83(6):760-8. doi: 10.1016/j.ajhg.2008.11.002. Epub 2008 Nov 20.

17.

Cell response to oxidative stress induced apoptosis in patients with Leber's hereditary optic neuropathy.

Battisti C, Formichi P, Cardaioli E, Bianchi S, Mangiavacchi P, Tripodi SA, Tosi P, Federico A.

J Neurol Neurosurg Psychiatry. 2004 Dec;75(12):1731-6.

18.

Identification of novel mitochondrial mutations in Leber's hereditary optic neuropathy.

Kumar M, Tanwar M, Saxena R, Sharma P, Dada R.

Mol Vis. 2010 Apr 30;16:782-92.

19.

Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland.

Puomila A, Hämäläinen P, Kivioja S, Savontaus ML, Koivumäki S, Huoponen K, Nikoskelainen E.

Eur J Hum Genet. 2007 Oct;15(10):1079-89. Epub 2007 Apr 4.

20.

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

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