(Q34386775)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11579429%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

review article

1 reference

title

Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11579429%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11579429%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

author name string

Dahl HH

series ordinal

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11579429%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

publication date

1 January 2001

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11579429%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part A

11 November 2019

published in

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11579429%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

volume

106

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11579429%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

page(s)

102-114

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11579429%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11579429%20AND%20SRC:MED&resulttype=core&format=json

Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A)

11 November 2019

cites work

1 reference

Misconceptions about mitochondria and mammalian fertilization: implications for theories on human evolution

21 January 2018

1 reference

Rapid segregation of heteroplasmic bovine mitochondria

21 January 2018

1 reference

A novel X-linked gene, G4.5. is responsible for Barth syndrome

21 January 2018

1 reference

Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes

21 January 2018

1 reference

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

21 January 2018

1 reference

Mitochondrial DNA heteroplasmy after human ooplasmic transplantation.

21 January 2018

1 reference

Amplification of DNA sequences in polar bodies from human oocytes for diagnosis of mitochondrial disease.

21 January 2018

1 reference

Random genetic drift determines the level of mutant mtDNA in human primary oocytes

21 January 2018

1 reference

Candidate locus for a nuclear modifier gene for maternally inherited deafness

21 January 2018

1 reference

Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes.

21 January 2018

1 reference

Genetic counseling and prenatal diagnosis for mtDNA disease

21 January 2018

1 reference

MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring.

21 January 2018

1 reference

Birth of infant after transfer of anucleate donor oocyte cytoplasm into recipient eggs.

21 January 2018

1 reference

Towards reliable prenatal diagnosis of mtDNA point mutations: studies of nt8993 mutations in oocytes, fetal tissues, children and adults

21 January 2018

1 reference

In situ localization of mitochondrial DNA replication in intact mammalian cells

21 January 2018

1 reference

ESHRE preimplantation genetic diagnosis (PGD) consortium: data collection II (May 2000).

21 January 2018

1 reference

Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides

21 January 2018

1 reference

Mitochondrial DNA genotypes in nuclear transfer-derived cloned sheep

21 January 2018

1 reference

Paternal inheritance of mitochondrial DNA in mice

21 January 2018

1 reference

Recent advances and future developments in PGD.

21 January 2018

1 reference

Mitochondrial DNA polymorphism in a maternal lineage of Holstein cows

21 January 2018

1 reference

Evolutionary origin and consequences of uniparental mitochondrial inheritance

21 January 2018

1 reference

Mitochondrial gene segregation in mammals: is the bottleneck always narrow?

21 January 2018

1 reference

Germline passage of mitochondria: quantitative considerations and possible embryological sequelae

21 January 2018

1 reference

Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA.

21 January 2018

1 reference

Gene therapy of mitochondrial diseases using human cytoplasts

21 January 2018

1 reference

Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder

21 January 2018

1 reference

Pedigree analysis of French Canadian families with T14484C Leber's hereditary optic neuropathy.

21 January 2018

1 reference

The fate of human sperm-derived mtDNA in somatic cells

21 January 2018

1 reference

Evidence from human oocytes for a genetic bottleneck in an mtDNA disease

21 January 2018

1 reference

Comparison of the relative levels of the 3243 (A-->G) mtDNA mutation in heteroplasmic adult and fetal tissues

21 January 2018

1 reference

Mitochondrial encephalomyopathies: the enigma of genotype versus phenotype

21 January 2018

1 reference

THE RELATION OF RECOMBINATION TO MUTATIONAL ADVANCE

21 January 2018

1 reference

Progress in genetic counselling and prenatal diagnosis of maternally inherited mtDNA diseases

21 January 2018

1 reference

Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: duplications may be a transient intermediate form.

21 January 2018

1 reference

Are duplications of mitochondrial DNA characteristic of Kearns-Sayre syndrome?

21 January 2018

1 reference

Mitochondrial genetics '98 is the bottleneck cracked?

21 January 2018

1 reference

Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness

21 January 2018

1 reference

Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study

21 January 2018

1 reference

Prevention of human mitochondrial (mtDNA) disease by nucleus transplantation into an enucleated donor oocyte.

21 January 2018

1 reference

Mitochondrial genetics and disease

21 January 2018

1 reference

Mitochondrial DNA segregation in the developing embryo

21 January 2018

1 reference

Mitochondrial DNA heteroplasmy in cloned cattle produced by fetal and adult cell cloning

21 January 2018

1 reference

Ubiquitinated sperm mitochondria, selective proteolysis, and the regulation of mitochondrial inheritance in mammalian embryos.

21 January 2018

1 reference

Practical problems in detecting abnormal mitochondrial function and genomes

21 January 2018

1 reference

Mapping of mitochondrial DNA of individual sheep and goats: rapid evolution in the D loop region

21 January 2018

1 reference

A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency

21 January 2018

1 reference

Leigh syndrome, a mitochondrial encephalo(myo)pathy. A review of the literature

21 January 2018

1 reference

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

21 January 2018

1 reference

Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/AJMG.1380

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11579429%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference