Mosaicism for mitochondrial DNA polymorphic variants in placenta has implications for the feasibility of prenatal diagnosis in mtDNA diseases. (Q52019016)

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

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16670690 AND SRC:MED&resulttype=core&format=json

20 January 2020

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

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16670690 AND SRC:MED&resulttype=core&format=json

20 January 2020

mitochondrial DNA

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4

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20 January 2020

author name string

David R Marchington

1

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20 January 2020

Martin Scott-Brown

2

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20 January 2020

David H Barlow

3

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20 January 2020

publication date

3 May 2006

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20 January 2020

European Journal of Human Genetics

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20 January 2020

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20 January 2020

7

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20 January 2020

816-823

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20 January 2020

Mammalian mitochondrial genetics: heredity, heteroplasmy and disease

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201618

21 January 2018

Prenatal diagnosis of respiratory chain deficiency by direct mutation screening

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201618

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201618

21 January 2018

Paternal inheritance of mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201618

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201618

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201618

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201618

21 January 2018

Mitochondrial DNA mutations in human disease

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201618

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201618

21 January 2018

A sensitive denaturing gradient-Gel electrophoresis assay reveals a high frequency of heteroplasmy in hypervariable region 1 of the human mtDNA control region

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201618

21 January 2018

Hypervariable sites in the mtDNA control region are mutational hotspots

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201618

21 January 2018

No evidence for paternal mtDNA transmission to offspring or extra-embryonic tissues after ICSI

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201618

21 January 2018

Phylogeography of mitochondrial DNA in western Europe

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201618

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201618

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201618

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201618

21 January 2018

Skewed X-chromosome inactivation is common in fetuses or newborns associated with confined placental mosaicism

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201618

21 January 2018

The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201618

21 January 2018

Is paternal mitochondrial DNA transferred to the offspring following intracytoplasmic sperm injection?

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201618

21 January 2018

Evaluation of parental mitochondrial inheritance in neonates born after intracytoplasmic sperm injection

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201618

21 January 2018

Recombination of human mitochondrial DNA.

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201618

21 January 2018

A reanalysis of the indirect evidence for recombination in human mitochondrial DNA.

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201618

21 January 2018

Recombination or mutation rate heterogeneity? Implications for Mitochondrial Eve.

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201618

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Cytoplasmic impact on cross-genus cloned fish derived from transgenic common carp (Cyprinus carpio) nuclei and goldfish (Carassius auratus) enucleated eggs

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https://api.crossref.org/works/10.1038/SJ.EJHG.5201618

21 January 2018

Nuclear-cytoplasmic interactions affect in utero developmental capacity, phenotype, and cellular metabolism of bovine nuclear transfer fetuses

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201618

21 January 2018

Role of the mitochondrial genome in assisted reproductive technologies and embryonic stem cell-based therapeutic cloning

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201618

21 January 2018

Paternal mitochondrial DNA transmission during nonhuman primate nuclear transfer.

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201618

21 January 2018

Sequence and organization of the human mitochondrial genome

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201618

21 January 2018

Mitochondrial DNA, diabetes and pancreatic pathology in Kearns-Sayre syndrome

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201618

7 January 2021

based on heuristic

inferred from DOI database lookup

Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201618

7 January 2021

based on heuristic

inferred from DOI database lookup

The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both?

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201618

7 January 2021

based on heuristic

inferred from DOI database lookup

MtDNA substitution rate and segregation of heteroplasmy in coding and noncoding regions

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201618

7 January 2021

based on heuristic

inferred from DOI database lookup

Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201618

7 January 2021

based on heuristic

inferred from DOI database lookup

Polymorphism of the mitochondrial DNA control region in Italians

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201618

7 January 2021

based on heuristic

inferred from DOI database lookup

Quantification of tRNA3243(Leu) point mutation of mitochondrial DNA in MELAS patients and its effects on mitochondrial transcription

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201618

7 January 2021

based on heuristic

inferred from DOI database lookup

Prenatal diagnosis of a fetus harboring an intermediate load of the A3243G mtDNA mutation in a maternal carrier diagnosed with MELAS syndrome

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201618

7 January 2021

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Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies

1 reference

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based on heuristic

inferred from DOI database lookup

Failure of elimination of paternal mitochondrial DNA in abnormal embryos

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

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