Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success (Q44700452)

5 December 2017

title

Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success (English)

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5 December 2017

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Florence H J van Tienen

object named as

Florence H J van Tienen

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5 December 2017

Hubert J M Smeets

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5 December 2017

author name string

Suzanne C E H Sallevelt

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5 December 2017

Joseph C F M Dreesen

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5 December 2017

Marion Drüsedau

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5 December 2017

Sabine Spierts

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5 December 2017

Edith Coonen

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5 December 2017

Ronald J T van Golde

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5 December 2017

Irineus F M de Coo

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5 December 2017

Joep P M Geraedts

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5 December 2017

Christine E M de Die-Smulders

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5 December 2017

language of work or name

English

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publication date

1 February 2013

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Journal of Medical Genetics

5 December 2017

published in

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5 December 2017

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5 December 2017

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5 December 2017

page(s)

125-132

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Longitudinal analysis of the segregation of mtDNA mutations in heteroplasmic individuals

5 December 2017

cites work

1 reference

7 July 2024

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

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7 July 2024

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

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Comparison of in-vitro development of embryos originating from either conventional in-vitro fertilization or intracytoplasmic sperm injection

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Mitochondrial DNA content affects the fertilizability of human oocytes

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High fertilization and implantation rates after intracytoplasmic sperm injection.

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Pathogenic mitochondrial DNA mutations are common in the general population

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Preventing transmission of maternally inherited mitochondrial DNA diseases.

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Leber's hereditary optic neuropathy: heteroplasmy is likely to be significant in the expression of LHON in families with the 3460 ND1 mutation

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

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Intergenerational transmission of pathogenic heteroplasmic mitochondrial DNA

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

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Poor correlation between polar bodies and blastomere mutation load in a patient with m.3243A>G tRNALeu(UUR) point mutation.

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

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Segregation of the G8993 mutant mitochondrial DNA through generations and embryonic tissues in a family at risk of leigh syndrome

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7 July 2024

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

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7 July 2024

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Prenatal exclusion of Leigh syndrome due to T8993C mutation in the mitochondrial DNA

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Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells.

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

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

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The study of mitochondrial A3243G mutation in different samples

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7 July 2024

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Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A>G mtDNA mutation.

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

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7 July 2024

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Prospect of preimplantation genetic diagnosis for heritable mitochondrial DNA diseases

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7 July 2024

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

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7 July 2024

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

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7 July 2024

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

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Impact of cleavage-stage embryo biopsy in view of PGD on human blastocyst implantation: a prospective cohort of single embryo transfers

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7 July 2024

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

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7 July 2024

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

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7 July 2024

https://opencitations.net/index/api/v1/references/10.1136/JMEDGENET-2012-101172

Previous estimates of mitochondrial DNA mutation level variance did not account for sampling error: comparing the mtDNA genetic bottleneck in mice and humans

1 reference

7 July 2024

https://opencitations.net/index/api/v1/references/10.1136/JMEDGENET-2012-101172

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

1 reference

7 July 2024

https://opencitations.net/index/api/v1/references/10.1136/JMEDGENET-2012-101172

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

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7 July 2024

https://opencitations.net/index/api/v1/references/10.1136/JMEDGENET-2012-101172

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

1 reference

7 July 2024

https://opencitations.net/index/api/v1/references/10.1136/JMEDGENET-2012-101172

Genetic features of mitochondrial respiratory chain disorders

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7 July 2024

https://opencitations.net/index/api/v1/references/10.1136/JMEDGENET-2012-101172

Single cell quantification of the 8993T>G NARP mitochondrial DNA mutation by fluorescent PCR

1 reference

7 July 2024

https://opencitations.net/index/api/v1/references/10.1136/JMEDGENET-2012-101172

Population prevalence of the MELAS A3243G mutation

1 reference

7 July 2024

https://opencitations.net/index/api/v1/references/10.1136/JMEDGENET-2012-101172

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

1 reference

7 July 2024

https://opencitations.net/index/api/v1/references/10.1136/JMEDGENET-2012-101172

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

1 reference

7 July 2024

https://opencitations.net/index/api/v1/references/10.1136/JMEDGENET-2012-101172

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

1 reference

7 July 2024

https://opencitations.net/index/api/v1/references/10.1136/JMEDGENET-2012-101172

Identifiers

DOI

10.1136/JMEDGENET-2012-101172

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5 December 2017

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