(Q34263470)

1 August 2017

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

1 reference

1 August 2017

0 references

1 reference

Rötig A

1

1 reference

1 August 2017

Cormier V

2

1 reference

1 August 2017

Blanche S

3

1 reference

1 August 2017

Bonnefont JP

4

1 reference

1 August 2017

Ledeist F

5

1 reference

1 August 2017

Romero N

6

1 reference

1 August 2017

Schmitz J

7

1 reference

1 August 2017

Rustin P

8

1 reference

1 August 2017

Fischer A

9

1 reference

1 August 2017

Saudubray JM

10

1 reference

1 August 2017

language of work or name

English

0 references

publication date

1 November 1990

1 reference

Journal of Clinical Investigation

1 August 2017

1 reference

1 August 2017

86

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1 August 2017

1601-1608

1 reference

1 August 2017

5

1 reference

THE SYNDROME OF PANCREATIC INSUFFICIENCY AND BONE MARROW DYSFUNCTION.

1 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296909

An electron-transport system associated with the outer membrane of liver mitochondria. A biochemical and morphological study

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296909

Sequence and organization of the human mitochondrial genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296909

Maternal inheritance of human mitochondrial DNA

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296909

Deletions of mitochondrial DNA in Kearns-Sayre syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296909

Relationship between immunoglobulin production and immortalization by Epstein Barr virus.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296909

Kearns-Sayre syndrome with muscle mitochondrial DNA deletion

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296909

Deletions of muscle mitochondrial DNA in mitochondrial myopathies: sequence analysis and possible mechanisms.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296909

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296909

Mitochondrial DNA mutations and neuromuscular disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296909

Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296909

Duplications of mitochondrial DNA in mitochondrial myopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296909

Transcription and translation of deleted mitochondrial genomes in Kearns-Sayre syndrome: implications for pathogenesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296909

Measurement of cytochromes in human skeletal muscle mitochondria, isolated from fresh and frozen stored muscle specimens

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296909

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296909

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296909

The role of lymphocyte function-associated antigen 1 (LFA-1) in the adherence of T lymphocytes to B lymphocytes

28 October 2018

1 reference

12 December 2020

Syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction presenting in the neonate

1 reference

12 December 2020

On the formation of spontaneous deletions: The importance of short sequence homologies in the generation of large deletions

1 reference

12 December 2020

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI114881

1 reference

1 August 2017

1 reference

1 August 2017

1 reference