A novel unstable mutation in mitochondrial DNA responsible for maternally inherited diabetes and deafness (Q34028965)

30 July 2017

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A novel unstable mutation in mitochondrial DNA responsible for maternally inherited diabetes and deafness (English)

1 reference

30 July 2017

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1 reference

Sylvie Bannwarth

1

1 reference

30 July 2017

Meriame Abbassi

2

1 reference

30 July 2017

René Valéro

3

1 reference

30 July 2017

Konstantina Fragaki

4

1 reference

30 July 2017

Noémie Dubois

5

1 reference

30 July 2017

Bernard Vialettes

6

1 reference

30 July 2017

Véronique Paquis-Flucklinger

7

1 reference

30 July 2017

language of work or name

English

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publication date

12 October 2011

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30 July 2017

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30 July 2017

volume

34

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30 July 2017

issue

12

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30 July 2017

page(s)

2591-2593

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Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported

30 July 2017

copyright license

start time

1 September 2021

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3220838

An enhanced MITOMAP with a global mtDNA mutational phylogeny

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3220838

Novel mitochondrial DNA length variants and genetic instability in a family with diabetes and deafness

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3220838

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3220838

The matrilineal ancestry of Ashkenazi Jewry: portrait of a recent founder event

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3220838

mtDB: Human Mitochondrial Genome Database, a resource for population genetics and medical sciences

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3220838

Surveyor Nuclease: a new strategy for a rapid identification of heteroplasmic mitochondrial DNA mutations in patients with respiratory chain defects.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3220838

Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3220838

The mtDNA-encoded ND6 subunit of mitochondrial NADH dehydrogenase is essential for the assembly of the membrane arm and the respiratory function of the enzyme

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3220838

Importance of searching for mtDNA defects in patients with diabetes and hearing deficit

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3220838

Clinical phenotypes, insulin secretion, and insulin sensitivity in kindreds with maternally inherited diabetes and deafness due to mitochondrial tRNALeu(UUR) gene mutation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3220838

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3220838

A neonatal polyvisceral failure linked to a de novo homoplasmic mutation in the mitochondrially encoded cytochrome b gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3220838

In situ characterization of islets in diabetes with a mitochondrial DNA mutation at nucleotide position 3243

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21994425

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Biochemical and molecular investigations in respiratory chain deficiencies

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21994425

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.2337/DC11-1012

1 reference

30 July 2017

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30 July 2017

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