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Items: 1 to 20 of 100

1.

Audiologic and genetic features of the A3243G mtDNA mutation.

Vivero RJ, Ouyang X, Kim YG, Liu W, Du L, Yan D, Liu XZ.

Genet Test Mol Biomarkers. 2013 May;17(5):383-9. doi: 10.1089/gtmb.2012.0403. Epub 2013 Mar 11.

3.
4.

Mitochondrial gene mutations in the tRNA(Leu(UUR)) region and diabetes: prevalence and clinical phenotypes in Japan.

Ohkubo K, Yamano A, Nagashima M, Mori Y, Anzai K, Akehi Y, Nomiyama R, Asano T, Urae A, Ono J.

Clin Chem. 2001 Sep;47(9):1641-8.

5.

[Audiologic features of mitochondrial DNA A3243G mutation and its correlation with mutation rate].

Xue JF, Chen L, Ma YN, Zhao DH, Duan JB, Wang ZX, Qi Y, Liu YH.

Zhonghua Yi Xue Za Zhi. 2012 Oct 30;92(40):2830-4. Chinese.

PMID:
23290211
6.

MELAS: A Multigenerational Impact of the MTTL1 A3243G MELAS Mutation.

Prasad M, Narayan B, Prasad AN, Rupar CA, Levin S, Kronick J, Ramsay D, Tay KY, Prasad C.

Can J Neurol Sci. 2014 Mar;41(2):210-9.

PMID:
24534033
7.

Phenotypic heterogeneity in a Chinese family with mitochondrial disease and A3243G mutation of mitochondrial DNA.

Thajeb P, Lee HC, Pang CY, Jeng CM, Huang SF, Wei YH.

Zhonghua Yi Xue Za Zhi (Taipei). 2000 Jan;63(1):71-6.

PMID:
10645055
8.
9.

[Mitochondrial DNA A1555G mutation of seven families with nonsyndromic hearing loss].

Ou QS, Cheng ZJ, Yang B, Jiang L, Chen J.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Oct;26(5):550-4. doi: 10.3760/cma.j.issn.1003-9406.2009.05.017. Chinese.

PMID:
19806580
10.

Maternally transmitted diabetes mellitus associated with the mitochondrial tRNA(Leu(UUR)) A3243G mutation in a four-generation Han Chinese family.

Lu J, Wang D, Li R, Li W, Ji J, Zhao J, Ye W, Yang L, Qian Y, Zhu Y, Guan MX.

Biochem Biophys Res Commun. 2006 Sep 15;348(1):115-9. Epub 2006 Jul 13.

PMID:
16876129
11.

Clinical and pathologic features of focal segmental glomerulosclerosis with mitochondrial tRNALeu(UUR) gene mutation.

Hotta O, Inoue CN, Miyabayashi S, Furuta T, Takeuchi A, Taguma Y.

Kidney Int. 2001 Apr;59(4):1236-43.

12.

Search for mitochondrial A3243G tRNA(Leu) mutation in Polish patients with type 2 diabetes mellitus.

Małecki M, Klupa T, Wanic K, Frey J, Cyganek K, Sieradzki J.

Med Sci Monit. 2001 Mar-Apr;7(2):246-50.

PMID:
11257730
13.

Defining the importance of mitochondrial gene defects in maternally inherited diabetes by sequencing the entire mitochondrial genome.

Choo-Kang AT, Lynn S, Taylor GA, Daly ME, Sihota SS, Wardell TM, Chinnery PF, Turnbull DM, Walker M.

Diabetes. 2002 Jul;51(7):2317-20.

14.

Macular dystrophy associated with the A3243G mitochondrial DNA mutation. Distinct retinal and associated features, disease variability, and characterization of asymptomatic family members.

Michaelides M, Jenkins SA, Bamiou DE, Sweeney MG, Davis MB, Luxon L, Bird AC, Rath PP.

Arch Ophthalmol. 2008 Mar;126(3):320-8. doi: 10.1001/archopht.126.3.320.

PMID:
18332310
15.

[Diabetes mellitus associated with the A3243G mutation of mitochondrial DNA. Apropos a case].

Biarnés J, Barrientos A, Ricart W, Nunes V, Fernández-Castañer M, Soler J.

Med Clin (Barc). 1999 Jan 30;112(3):99-101. Review. Spanish.

PMID:
10074618
16.

Progressive sensorineural hearing impairment in maternally inherited diabetes mellitus and deafness (MIDD).

Hendrickx JJ, Mudde AH, 't Hart LM, Huygen PL, Cremers CW.

Otol Neurotol. 2006 Sep;27(6):802-8.

PMID:
16788417
17.

Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA(Leu(UUR)) gene.

van den Ouweland JM, Lemkes HH, Trembath RC, Ross R, Velho G, Cohen D, Froguel P, Maassen JA.

Diabetes. 1994 Jun;43(6):746-51.

PMID:
7910800
18.

Large-scale screening of mitochondrial DNA mutations among Iranian patients with prelingual nonsyndromic hearing impairment.

Montazer Zohour M, Tabatabaiefar MA, Dehkordi FA, Farrokhi E, Akbari MT, Chaleshtori MH.

Genet Test Mol Biomarkers. 2012 Apr;16(4):271-8. doi: 10.1089/gtmb.2011.0176. Epub 2011 Nov 11.

PMID:
22077646
19.

Hearing loss with a mitochondrial gene mutation is highly prevalent in Japan.

Oshima T, Ueda N, Ikeda K, Abe K, Takasaka T.

Laryngoscope. 1999 Feb;109(2 Pt 1):334-8.

PMID:
10890789
20.

Frequency and clinical features of patients with sensorineural hearing loss associated with the A3243G mutation of the mitochondrial DNA in otorhinolaryngic clinics.

Nagata H, Kumahara K, Tomemori T, Arimoto Y, Isoyama K, Yoshida K, Konno A.

J Hum Genet. 2001;46(10):595-9.

PMID:
11587074

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