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Items: 1 to 20 of 101

1.

Identifying sequence variants in the human mitochondrial genome using high-resolution melt (HRM) profiling.

Dobrowolski SF, Hendrickx AT, van den Bosch BJ, Smeets HJ, Gray J, Miller T, Sears M.

Hum Mutat. 2009 Jun;30(6):891-8. doi: 10.1002/humu.21003. Erratum in: Hum Mutat. 2009 Dec;30(12):1713. Hendrickx, Alexandra T M [added]; van den Bosch, Bianca J C [added]; Smeets, Hubert J M [added].

PMID:
19370763
2.

Detection of known base substitution mutations in human mitochondrial DNA of MERRF and MELAS by biochip technology.

Du W, Li W, Chen G, Cao H, Tang H, Tang X, Jin Q, Sun Z, Zhao H, Zhou W, He S, Lv Y, Zhao J, Zhang X.

Biosens Bioelectron. 2009 Apr 15;24(8):2371-6. doi: 10.1016/j.bios.2008.12.008. Epub 2008 Dec 9.

PMID:
19155171
3.

Detection of low levels of the mitochondrial tRNALeu(UUR) 3243A>G mutation in blood derived from patients with diabetes.

Procaccio V, Neckelmann N, Paquis-Flucklinger V, Bannwarth S, Jimenez R, Davila A, Poole JC, Wallace DC.

Mol Diagn Ther. 2006;10(6):381-9.

PMID:
17154655
4.

Mutation screening of the mitochondrial genome using denaturing high-performance liquid chromatography.

Biggin A, Henke R, Bennetts B, Thorburn DR, Christodoulou J.

Mol Genet Metab. 2005 Jan;84(1):61-74. Epub 2004 Nov 11.

PMID:
15639196
5.
7.

Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography.

van Den Bosch BJ, de Coo RF, Scholte HR, Nijland JG, van Den Bogaard R, de Visser M, de Die-Smulders CE, Smeets HJ.

Nucleic Acids Res. 2000 Oct 15;28(20):E89.

8.

Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders.

Sternberg D, Chatzoglou E, Laforêt P, Fayet G, Jardel C, Blondy P, Fardeau M, Amselem S, Eymard B, Lombès A.

Brain. 2001 May;124(Pt 5):984-94.

PMID:
11335700
9.

Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations.

Ballana E, Govea N, de Cid R, Garcia C, Arribas C, Rosell J, Estivill X.

Hum Mutat. 2008 Feb;29(2):248-57.

PMID:
17999439
10.
11.

Application of high-resolution melting for genotyping bovine mitochondrial DNA.

Zhou ZW, Yan JB, Li H, Ren ZR.

Biotechnol Prog. 2011 Mar-Apr;27(2):592-5. doi: 10.1002/btpr.548. Epub 2011 Mar 29.

PMID:
21448913
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.

Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal development.

Bouchet C, Steffann J, Corcos J, Monnot S, Paquis V, Rötig A, Lebon S, Levy P, Royer G, Giurgea I, Gigarel N, Benachi A, Dumez Y, Munnich A, Bonnefont JP.

J Med Genet. 2006 Oct;43(10):788-92. Epub 2006 May 11.

14.

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
15.

Heterogeneity in the phenotypic expression of the mutation in the mitochondrial tRNA(Leu) (UUR) gene generally associated with the MELAS subset of mitochondrial encephalomyopathies.

Jean-Francois MJ, Lertrit P, Berkovic SF, Crimmins D, Morris J, Marzuki S, Byrne E.

Aust N Z J Med. 1994 Apr;24(2):188-93.

PMID:
8042948
16.

A molecular genetic study of focal histochemical defects in mitochondrial encephalomyopathies.

Hammans SR, Sweeney MG, Wicks DA, Morgan-Hughes JA, Harding AE.

Brain. 1992 Apr;115 ( Pt 2):343-65. Erratum in: Brain 1993 Feb;116(Pt 1):following 306.

PMID:
1606473
17.

Analysis of common mitochondrial DNA mutations by allele-specific oligonucleotide and Southern blot hybridization.

Tang S, Halberg MC, Floyd KC, Wang J.

Methods Mol Biol. 2012;837:259-79. doi: 10.1007/978-1-61779-504-6_18.

PMID:
22215554
19.

Mutational scanning of mitochondrial DNA by two-dimensional electrophoresis.

van Orsouw NJ, Zhang X, Wei JY, Johns DR, Vijg J.

Genomics. 1998 Aug 15;52(1):27-36.

PMID:
9740668
20.

A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene.

Zeviani M, Muntoni F, Savarese N, Serra G, Tiranti V, Carrara F, Mariotti C, DiDonato S.

Eur J Hum Genet. 1993;1(1):80-7. Erratum in: Eur J Hum Genet 1993;1(2):124.

PMID:
8069654

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