(Q72391045)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7814031%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

title

A topoisomerase II cleavage site is associated with a novel mitochondrial DNA deletion (English)

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26 October 2019

2

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26 October 2019

author name string

R B Blok

series ordinal

1

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26 October 2019

G N Thompson

series ordinal

3

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26 October 2019

H H Dahl

series ordinal

4

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26 October 2019

publication date

1 January 1995

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26 October 2019

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26 October 2019

volume

95

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26 October 2019

issue

1

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26 October 2019

page(s)

75-81

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https://scigraph.springernature.com/pub.10.1007/bf00225079

26 October 2019

exact match

0 references

cites work

Molecular and genetic analyses of two patients with Pearson's marrow-pancreas syndrome

1 reference

12 December 2020

Sequence and organization of the human mitochondrial genome

1 reference

12 December 2020

The measurement of the rotenone-sensitive NADH cytochrome c reductase activity in mitochondria isolated from minute amount of human skeletal muscle.

1 reference

12 December 2020

Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy

1 reference

12 December 2020

Germ-line deletions of mtDNA in mitochondrial myopathy

1 reference

12 December 2020

RETRACTED: In vivo and in vitro evidence for slipped mispairing in mammalian mitochondria

1 reference

12 December 2020

Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions

1 reference

12 December 2020

Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome

1 reference

12 December 2020

Histological, Enzymatic and Mitochondrial DNA Studies in Patients with Kearns-Sayre Syndrome and Chronic Progressive External Ophthalmoplegia

1 reference

12 December 2020

A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction

1 reference

12 December 2020

Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy

1 reference

12 December 2020

Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA.

1 reference

12 December 2020

Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome

1 reference

12 December 2020

Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome

1 reference

12 December 2020

Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome

1 reference

12 December 2020

Pyruvate dehydrogenase deficiency caused by a 5 base pair duplication in the E1 alpha subunit

1 reference

12 December 2020

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

1 reference

12 December 2020

Eukaryotic topoisomerase II preferentially cleaves alternating purine-pyrimidine repeats

1 reference

12 December 2020

Chronic progressive external ophthalmoplegia: a correlative study of mitochondrial DNA deletions and their phenotypic expression in muscle biopsies

1 reference

12 December 2020

Oxidative phosphorylation diseases. Disorders of two genomes

1 reference

12 December 2020

Kearns-Sayre syndrome presenting as renal tubular acidosis

1 reference

12 December 2020

Deletions of mitochondrial DNA in Kearns-Sayre syndrome and ocular myopathies: Genetic, biochemical and morphological studies

1 reference

12 December 2020

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

1 reference

12 December 2020

Kearns-Sayre syndrome with sideroblastic anemia: molecular investigations

1 reference

12 December 2020

A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA.

1 reference

12 December 2020

A tandem duplication in the D-loop of human mitochondrial DNA is associated with deletions in mitochondrial myopathies

1 reference

12 December 2020

Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome

1 reference

12 December 2020

Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion

1 reference

12 December 2020

Diseases of the mitochondrial DNA.

1 reference

12 December 2020

Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA.

1 reference

12 December 2020

Nucleus-driven mutations of human mitochondrial DNA

1 reference

12 December 2020

Deletion in Blood Mitochondrial DNA in Kearns-Sayre Syndrome

1 reference

12 December 2020

Mitochondrial disorders

1 reference

12 December 2020

Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: duplications may be a transient intermediate form.

1 reference

12 December 2020

Kearns-Sayre syndrome case presenting a mitochondrial DNA deletion with unusual direct repeats and a rudimentary RNAase mitochondrial ribonucleotide processing target sequence

1 reference

12 December 2020

Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA

1 reference

12 December 2020

Mitochondrial DNA deletion in an 8-year-old boy with Pearson syndrome

1 reference

12 December 2020

Evaluation of procedures for assaying oxidative phosphorylation enzyme activities in mitochondrial myopathy muscle biopsies

1 reference

12 December 2020

Multiple defects of the mitochondrial respiratory chain in a mitochondrial encephalopathy (MERRF): a clinical, biochemical and molecular study.

1 reference

12 December 2020

Deletions of the mitochondrial genome

1 reference

12 December 2020

Mapping of heteroplasmic mitochondrial DNA deletions in Kearns-Sayre syndrome

1 reference

12 December 2020

Detection of platelet mitochondrial DNA deletions in Kearns-Sayre syndrome

1 reference

12 December 2020

Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00225079

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7814031%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

1 reference