(Q37353478)

19 August 2017

A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome (English)

1 reference

Xavier Estivill i Pallejà

19 August 2017

0 references

1 reference

10

1 reference

19 August 2017

Barrientos A

1

1 reference

19 August 2017

Volpini V

2

1 reference

19 August 2017

Casademont J

3

1 reference

19 August 2017

Genís D

4

1 reference

19 August 2017

Manzanares JM

5

1 reference

19 August 2017

Ferrer I

6

1 reference

19 August 2017

Corral J

7

1 reference

19 August 2017

Cardellach F

8

1 reference

19 August 2017

Urbano-Márquez A

9

1 reference

19 August 2017

Nunes V

11

1 reference

19 August 2017

language of work or name

English

0 references

publication date

1 April 1996

1 reference

Journal of Clinical Investigation

19 August 2017

1 reference

19 August 2017

97

1 reference

19 August 2017

7

1 reference

19 August 2017

1570-1576

1 reference

Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300).

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507219

Faster sequential genetic linkage computations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507219

Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507219

Chromosomal localization of mitochondrial transcription factor A (TCF6), single-stranded DNA-binding protein (SSBP), and endonuclease G (ENDOG), three human housekeeping genes involved in mitochondrial biogenesis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507219

An autosomal locus predisposing to deletions of mitochondrial DNA

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507219

The 1993-94 Généthon human genetic linkage map

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507219

Sequence and organization of the human mitochondrial genome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507219

Computer-simulation methods in human linkage analysis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507219

Thiamine-responsive anemia in DIDMOAD syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507219

The gene for the RNA component of the mitochondrial RNA-processing endoribonuclease is located on human chromosome 9p and on mouse chromosome 4

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507219

Detection of a specific mitochondrial DNA deletion in tissues of older humans

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507219

Psychiatric disorders in 36 families with Wolfram syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507219

Autosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomyopathy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507219

Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507219

Psychiatric findings in Wolfram syndrome homozygotes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507219

Juvenile diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, atonia of the urinary tract and bladder, and other abnormalities (Wolfram syndrome). A review of 88 cases from the literature with personal observations on 3 new patients

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507219

Diabetes mellitus, diabetes insipidus, and optic atrophy. An autosomal recessive syndrome?

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507219

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507219

Mitochondrial DNA deletions in human brain: regional variability and increase with advanced age

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507219

Search for a genetic event in monozygotic twins discordant for schizophrenia.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507219

Respiratory chain and mitochondrial DNA in muscle and brain in Parkinson's disease patients

2 September 2018

1 reference

12 December 2020

Ophthalmoplegia, demyelinating neuropathy, leukoencephalopathy, myopathy, and gastrointestinal dysfunction with multiple deletions of mitochondrial DNA: a mitochondrial multisystem disorder in search of a name

1 reference

12 December 2020

Biochemical and molecular investigations in respiratory chain deficiencies

1 reference

12 December 2020

Multiple deletions of mtDNA in two brothers with sideroblastic anemia and motochondrial myopathy and in their asymptomatic mother

1 reference

12 December 2020

Multiple deletions in mitochondrial DNA at direct repeats of non-D-loop regions in cases of familial mitochondrial myopathy

1 reference

12 December 2020

Mitochondrial abnormalities in the DIDMOAD syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI118581

1 reference

19 August 2017

1 reference

19 August 2017

PubMed publication ID

8601620

1 reference