(Q67482157)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301992%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301992%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

1 reference

Ballinger SW

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301992%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

Shoffner JM

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301992%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

Hedaya EV

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301992%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

Trounce I

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301992%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

Polak MA

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301992%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

Koontz DA

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301992%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

Wallace DC

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301992%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1301992

10 September 2022

publication date

1 April 1992

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301992%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301992%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

volume

1

1 reference

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13 September 2019

issue

1

1 reference

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13 September 2019

page(s)

11-15

1 reference

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Familial diabetes aggregation in type I diabetics: gestational diabetes an apparent risk factor for increased diabetes susceptibility in the offspring

13 September 2019

cites work

1 reference

7 January 2021

Teratogenetic maternofoetal transmission and prevention of diabetes susceptibility

1 reference

7 January 2021

Gestational diabetes mellitus: a syndrome with phenotypic and genotypic heterogeneity

1 reference

7 January 2021

Some aspects of the genetics and etiology of spontaneous diabetes mellitus

1 reference

7 January 2021

Exhibition of specific alterations in activities and mRNA levels of rat islet glycolytic and mitochondrial enzymes in three different in vitro model systems for attenuated insulin release

1 reference

7 January 2021

Decreased mitochondrial gene expression in isolated islets of rats injected neonatally with streptozotocin

1 reference

7 January 2021

Stimulation by D-glucose of mitochondrial oxidative events in islet cells

1 reference

7 January 2021

Impairment of Glycerol Phosphate Shuttle in Islets From Rats With Diabetes Induced by Neonatal Streptozocin

1 reference

7 January 2021

Defective catabolism of D-glucose and L-glutamine in mouse pancreatic islets maintained in culture after streptozotocin exposure

1 reference

7 January 2021

Normal insulin receptors in mitochondrial myopathies with ophthalmoplegia

1 reference

7 January 2021

Duplications of mitochondrial DNA in mitochondrial myopathy

1 reference

7 January 2021

Kearns-Sayre syndrome presenting as renal tubular acidosis

1 reference

7 January 2021

KEARNS-SAYRE SYNDROME WITH MUSCLE MITOCHONDRIAL DNA DELETION

1 reference

7 January 2021

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

1 reference

7 January 2021

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

1 reference

7 January 2021

Depletion of muscle mitochondrial DNA in AIDS patients with zidovudine-induced myopathy

1 reference

7 January 2021

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

1 reference

7 January 2021

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

1 reference

7 January 2021

Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease

1 reference

7 January 2021

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

1 reference

7 January 2021

Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR)

1 reference

7 January 2021

Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction

1 reference

7 January 2021

Maternal inheritance of deleted mitochondrial DNA in a family with mitochondrial myopathy

1 reference

7 January 2021

In vitro replication of human mitochondrial DNA: accurate initiation at the origin of light-strand synthesis

1 reference

7 January 2021

Mitochondrial DNA mutations and neuromuscular disease

1 reference

7 January 2021

Deletion mutants are functionally dominant over wild-type mitochondrial genomes in skeletal muscle fiber segments in mitochondrial disease

1 reference

7 January 2021

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

1 reference

7 January 2021

Mitochondrial oxidative phosphorylation defects in Parkinson's disease

1 reference

7 January 2021

Identifiers

DOI

10.1038/NG0492-11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301992%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

1 reference