(Q34356787)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24642831%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

title

A national perspective on prenatal testing for mitochondrial disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24642831%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

main subject

mitochondrial disease

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24642831%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Joanna Poulton

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24642831%20AND%20SRC:MED&resulttype=core&format=json

Douglass Matthew Turnbull

11 March 2020

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24642831%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Robert McFarland

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24642831%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Robert William Taylor

9

object named as

Robert W Taylor

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24642831%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

3

Emma L Blakely

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24642831%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

4

Carl Fratter

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24642831%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

5

Catherine L Feeney

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24642831%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

author name string

Victoria Nesbitt

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24642831%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Garry K Brown

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24642831%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

publication date

19 March 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24642831%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

11 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24642831%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

volume

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24642831%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

issue

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24642831%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

page(s)

1255-1259

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24642831%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 3.0 Unported

11 March 2020

copyright license

start time

19 March 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1038/ejhg.2014.35

0 references

cites work

Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200441

Human embryonic stem cells derived by somatic cell nuclear transfer.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200441

Human mitochondrial DNA: roles of inherited and somatic mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200441

Towards germline gene therapy of inherited mitochondrial diseases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200441

Maternally inherited mitochondrial DNA disease in consanguineous families

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200441

The implications of mitochondrial DNA copy number regulation during embryogenesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200441

Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA 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=4200441

Preimplantation genetic diagnosis for mitochondrial DNA disorders: ethical guidance for clinical practice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200441

A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200441

Prevalence of mitochondrial DNA disease in adults

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200441

Transmission of mitochondrial DNA disorders: possibilities for the future.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200441

Mitochondrial DNA mutations in human 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=4200441

Transmission and prenatal diagnosis of the T9176C mitochondrial DNA mutation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200441

Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial 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=4200441

Mitochondrial DNA deletion in "identical" twin brothers

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200441

Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200441

Segregation of mitochondrial DNA (mtDNA) in human oocytes and in animal models of mtDNA disease: clinical implications.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200441

Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200441

Reanalysis and revision of the Cambridge reference sequence for 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=4200441

Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200441

A sequencing method based on real-time pyrophosphate

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200441

Minimum birth prevalence of mitochondrial respiratory chain disorders in children.

6 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.35

Mosaicism for mitochondrial DNA polymorphic variants in placenta has implications for the feasibility of prenatal diagnosis in mtDNA diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.35

mtDNA point mutations are present at various levels of heteroplasmy in human oocytes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.35

Prospect of preimplantation genetic diagnosis for heritable mitochondrial DNA diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.35

A novel mitochondrial tRNAGlu (MTTE) gene mutation causing chronic progressive external ophthalmoplegia at low levels of heteroplasmy in muscle.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.35

Early-onset cataracts, spastic paraparesis, and ataxia caused by a novel mitochondrial tRNAGlu (MT-TE) gene mutation causing severe complex I deficiency: a clinical, molecular, and neuropathologic study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.35

Information for genetic management of mtDNA disease: sampling pathogenic mtDNA mutants in the human germline and in placenta.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.35

Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.35

Transcriptional and epigenetic dynamics during specification of human embryonic stem cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.35

Nuclear genetic control of mitochondrial DNA segregation

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200441

Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene

27 October 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.35

Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24642831

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

74th ENMC international workshop: mitochondrial diseases 19-20 november 1999, Naarden, the netherlands

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24642831

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2014.35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24642831%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24642831%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24642831%20AND%20SRC:MED&resulttype=core&format=json