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Items: 1 to 20 of 99

1.

Wild-Type Mitochondrial DNA Copy Number in Urinary Cells as a Useful Marker for Diagnosing Severity of the Mitochondrial Diseases.

Liu H, Ma Y, Fang F, Zhang Y, Zou L, Yang Y, Zhu S, Wang S, Zheng X, Pei P, Li L, Wu H, Xiao Y, Xu Y, Wang L, Cao Y, Pan H, Qi Y.

PLoS One. 2013 Jun 27;8(6):e67146. doi: 10.1371/journal.pone.0067146. Print 2013.

3.

Clinical phenotype, prognosis and mitochondrial DNA mutation load in mitochondrial encephalomyopathies.

Huang CC, Kuo HC, Chu CC, Liou CW, Ma YS, Wei YH.

J Biomed Sci. 2002;9(6 Pt 1):527-33.

PMID:
12372990
4.
5.

Low antioxidant content and mutation load in mitochondrial DNA A3243G mutation-related diabetes mellitus.

Liou CW, Huang CC, Lee CF, Lin TK, Wei YH.

J Formos Med Assoc. 2003 Aug;102(8):527-33.

PMID:
14569316
7.

Molecular analysis of diabetes mellitus-associated A3243G mitochondrial DNA mutation in Taiwanese cases.

Liou CW, Huang CC, Wei YH.

Diabetes Res Clin Pract. 2001 Dec;54 Suppl 2:S39-43.

PMID:
11733108
8.

Single-fiber PCR in MELAS(3243) patients: correlations between intratissue distribution and phenotypic expression of the mtDNA(A3243G) genotype.

Silvestri G, Rana M, Odoardi F, Modoni A, Paris E, Papacci M, Tonali P, Servidei S.

Am J Med Genet. 2000 Sep 18;94(3):201-6.

PMID:
10995506
9.

Alteration in the copy number of mitochondrial DNA in leukocytes of patients with mitochondrial encephalomyopathies.

Liu CS, Cheng WL, Lee CF, Ma YS, Lin CY, Huang CC, Wei YH.

Acta Neurol Scand. 2006 May;113(5):334-41.

PMID:
16629770
10.

Detection of A3243G point mutation in mitochondrial DNA from 10 cases of MELAS.

Wang Z, Liu S, Yang Y, Yuan Y, Wu L, Qi Y, Chen Q.

Chin Med J (Engl). 2002 Jul;115(7):995-7.

PMID:
12150728
11.
13.

The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study.

Hammans SR, Sweeney MG, Hanna MG, Brockington M, Morgan-Hughes JA, Harding AE.

Brain. 1995 Jun;118 ( Pt 3):721-34.

PMID:
7600089
14.

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
15.

Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA.

Mariotti C, Savarese N, Suomalainen A, Rimoldi M, Comi G, Prelle A, Antozzi C, Servidei S, Jarre L, DiDonato S, Zeviani M.

J Neurol. 1995 May;242(5):304-12.

PMID:
7643139
16.

Deletion of a 4977-bp Fragment in the Mitochondrial Genome Is Associated with Mitochondrial Disease Severity.

Zhang Y, Ma Y, Bu D, Liu H, Xia C, Zhang Y, Zhu S, Pan H, Pei P, Zheng X, Wang S, Xu Y, Qi Y.

PLoS One. 2015 May 29;10(5):e0128624. doi: 10.1371/journal.pone.0128624. eCollection 2015.

17.

Diabetes-associated mitochondrial DNA mutation A3243G impairs cellular metabolic pathways necessary for beta cell function.

de Andrade PB, Rubi B, Frigerio F, van den Ouweland JM, Maassen JA, Maechler P.

Diabetologia. 2006 Aug;49(8):1816-26. Epub 2006 May 31.

PMID:
16736129
18.

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.

19.

Longitudinal changes of mtDNA A3243G mutation load and level of functioning in MELAS.

Mehrazin M, Shanske S, Kaufmann P, Wei Y, Coku J, Engelstad K, Naini A, De Vivo DC, DiMauro S.

Am J Med Genet A. 2009 Feb 15;149A(4):584-7. doi: 10.1002/ajmg.a.32703.

20.

Quantification of Mitochondrial DNA with the A1555G Mutation in Deaf Patients Using Real-Time Amplification Refractory Mutation System-Quantitative PCR.

Zu-Jian C, Bin Y, Qi-Cai L, Lin J, Jing C, Qi-Shui O.

J Mol Diagn. 2009 Dec 3. [Epub ahead of print]

PMID:
19959797

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