(Q34264208)

1 August 2017

title

PGD and heteroplasmic mitochondrial DNA point mutations: a systematic review estimating the chance of healthy offspring (English)

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1 August 2017

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R Wolfe

2

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Patrick F. Chinnery

7

object named as

P F Chinnery

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1 August 2017

D M E I Hellebrekers

1

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A T M Hendrickx

3

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I F M de Coo

4

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C E de Die

5

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J P M Geraedts

6

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H J M Smeets

8

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publication date

28 March 2012

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Human Reproduction Update

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published in

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1 August 2017

volume

18

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issue

4

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1 August 2017

page(s)

341-349

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

1 August 2017

cites work

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https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMS008

Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMS008

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMS008

Avoiding transgenerational risks of mitochondrial DNA disorders: a morally acceptable reason for sex selection?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMS008

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMS008

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMS008

Mutational analysis of whole mitochondrial DNA in patients with MELAS and MERRF diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMS008

Pathogenic mitochondrial DNA mutations are common in the general population

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMS008

Tissue specific distribution of the 3243A->G mtDNA mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMS008

Mitochondrial DNA polymorphism in a maternal lineage of Holstein cows

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMS008

Origin, cellular expression, and cybrid transmission of mitochondrial CAP-R, PYR-IND, and OLI-R mutant phenotypes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMS008

Population prevalence of the MELAS A3243G mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMS008

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/10.1093%2FHUMUPD%2FDMS008

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMS008

Assigning pathogenicity to mitochondrial tRNA mutations: when "definitely maybe" is not good enough

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMS008

Sequence variation in mitochondrial complex I genes: mutation or polymorphism?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMS008

Segregation of mtDNA throughout human embryofetal development: m.3243A>G as a model system

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMS008

174th ENMC international workshop: Applying pre-implantation genetic diagnosis to mtDNA diseases: implications of scientific advances 19-21 March 2010, Naarden, The Netherlands.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMS008

Preventing transmission of maternally inherited mitochondrial DNA diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMS008

Transmission of mitochondrial DNA diseases and ways to prevent them.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMS008

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMS008

Minimum birth prevalence of mitochondrial respiratory chain disorders in children

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMS008

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/10.1093%2FHUMUPD%2FDMS008

Stability of the m.8993T->G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMS008

Prevalence of mitochondrial 1555A-->G mutation in adults of European descent.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMS008

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMS008

21 January 2018

Identifiers

DOI

10.1093/HUMUPD/DMS008

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1 August 2017

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