(Q34386670)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683610%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

title

Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683610%20AND%20SRC:MED&resulttype=core&format=json

mitochondrial neurogastrointestinal encephalomyopathy

13 November 2019

main subject

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683610%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

Daniel E. Weeks

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683610%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

M Hirano

1

1 reference

ORCID Public Data File 2021

author name string

J Garcia-de-Yebenes

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683610%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

A C Jones

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683610%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

S DiMauro

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683610%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

J R Carlo

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683610%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

A N Bender

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683610%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

A F Hahn

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683610%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

L M Salberg

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683610%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

T G Nygaard

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683610%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

language of work or name

English

0 references

publication date

1 August 1998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683610%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

13 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683610%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

volume

63

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683610%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

page(s)

526-533

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683610%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683610%20AND%20SRC:MED&resulttype=core&format=json

Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit

13 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377320

Mitochondrial DNA mutations and 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=1377320

A Gene Map of the Human 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=1377320

Isolation and characterization of cDNA and genomic clones encoding human muscle type carnitine palmitoyltransferase I.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377320

Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377320

An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377320

A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram 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=1377320

Faster sequential genetic linkage computations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377320

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377320

Automated construction of genetic linkage maps using an expert system (MultiMap): a human genome linkage map.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377320

An autosomal locus predisposing to deletions of 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=1377320

Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377320

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=1377320

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=1377320

Cloning and characterization of a cDNA that encodes a 70-kDa novel human thyroid autoantigen

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377320

Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377320

Molecular cloning of cDNA encoding the p70 (Ku) lupus autoantigen

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377320

Biogenesis of mitochondria

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377320

Centre d'etude du polymorphisme humain (CEPH): collaborative genetic mapping of the human 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=1377320

Automatic selection of loop breakers for genetic linkage analysis.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377320

A high-resolution genetic linkage map of the pericentromeric region of the human X chromosome.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377320

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377320

Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses

9 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9683610

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Characterization of the HeLa cell single-stranded DNA-dependent ATPase/DNA helicase II

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9683610

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/301979

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683610%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683610%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

1 reference