Related references
Note: Only part of the references are listed.Deleterious mtDNA mutations are common in mature oocytes
Hong Ma et al.
BIOLOGY OF REPRODUCTION (2020)
A Chinese Family With Adult-Onset Leigh-Like Syndrome Caused by the Heteroplasmic m.10191T>C Mutation in the Mitochondrial MTND3 Gene
Tao-Ran Li et al.
FRONTIERS IN NEUROLOGY (2019)
243rd ENMC international workshop: Developing guidelines for management of reproductive options for families with maternally inherited mtDNA disease, Amsterdam, the Netherlands, 22-24 March 2019
Joanna Poulton et al.
NEUROMUSCULAR DISORDERS (2019)
Regulation of Mother-to-Offspring Transmission of mtDNA Heteroplasmy
Ana Latorre-Pellicer et al.
CELL METABOLISM (2019)
Mitochondrial DNA Heteroplasmy and Purifying Selection in the Mammalian Female Germ Line
Stephen P. Burr et al.
DEVELOPMENT GROWTH & DIFFERENTIATION (2018)
Mutation-specific effects in germline transmission of pathogenic mtDNA variants
Auke B. C. Otten et al.
HUMAN REPRODUCTION (2018)
Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryos
Vasileios I. Floros et al.
NATURE CELL BIOLOGY (2018)
Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors
Sarah J. Pickett et al.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2018)
De novo mtDNA point mutations are common and have a low recurrence risk
Suzanne C. E. H. Sallevelt et al.
JOURNAL OF MEDICAL GENETICS (2017)
Intra-individual purifying selection on mitochondrial DNA variants during human oogenesis
Sara De Fanti et al.
HUMAN REPRODUCTION (2017)
Leigh syndrome: One disorder, more than 75 monogenic causes
Nicole J. Lake et al.
ANNALS OF NEUROLOGY (2016)
Transmission of human mtDNA heteroplasmy in the Genome of the Netherlands families: support for a variable-size bottleneck
Mingkun Li et al.
GENOME RESEARCH (2016)
Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck
Ian J. Wilson et al.
HUMAN MOLECULAR GENETICS (2016)
Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options
Mike Gerards et al.
MOLECULAR GENETICS AND METABOLISM (2016)
Mitochondrial diseases
Grainne S. Gorman et al.
NATURE REVIEWS DISEASE PRIMERS (2016)
Preventing the transmission of mitochondrial DNA disorders using prenatal or preimplantation genetic diagnosis
Hubert J. M. Smeets et al.
MITOCHONDRIAL RESEARCH IN TRANSLATIONAL MEDICINE (2015)
mtDNA mutations variously impact mtDNA maintenance throughout the human embryofetal development
J. Steffann et al.
CLINICAL GENETICS (2015)
Obstetric complications in carriers of the m.3243A>G mutation, a retrospective cohort study on maternal and fetal outcome
Paul de Laat et al.
MITOCHONDRION (2015)
The dynamics of mitochondrial DNA heteroplasmy: implications for human health and disease
James B. Stewart et al.
NATURE REVIEWS GENETICS (2015)
Long Survival in Patients With Leigh Syndrome and the m.10191T>C Mutation in MT-ND3: A Case Report and Review of the Literature
Rebecca J. Levy et al.
JOURNAL OF CHILD NEUROLOGY (2014)
Mutation-free baby born from a mitochondrial encephalopathy, lactic acidosis and stroke-like syndrome carrier after blastocyst trophectoderm preimplantation genetic diagnosis
Bjorn Heindryckx et al.
MITOCHONDRION (2014)
Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success
Suzanne C. E. H. Sallevelt et al.
JOURNAL OF MEDICAL GENETICS (2013)
The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation-implications for diagnosis and management
Victoria Nesbitt et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2013)
Mitochondrial DNA variations in ova and blastocyst: Implications in assisted reproduction
Monis Bilal Shamsi et al.
MITOCHONDRION (2013)
Mitochondrial DNA Genetics and the Heteroplasmy Conundrum in Evolution and Disease
Douglas C. Wallace et al.
COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2013)
The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome
Victoria Nesbitt et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2012)
Blastocyst preimplantation genetic diagnosis (PGD) of a mitochondrial DNA disorder
Nathan R. Treff et al.
FERTILITY AND STERILITY (2012)
Segregation of mtDNA Throughout Human Embryofetal Development: m.3243A > G as a Model System
Sophie Monnot et al.
HUMAN MUTATION (2011)
Polar body mutation load analysis in a patient with A3243G tRNALeu(UUR) point mutation
Mado Vandewoestyne et al.
MITOCHONDRION (2011)
Therapy for mitochondrial disorders: Little proof, high research activity, some promise
Anu Suomalainen
SEMINARS IN FETAL & NEONATAL MEDICINE (2011)
Mitochondrial DNA abnormalities in ophthalmological disease
Grainne S. Gorman et al.
SAUDI JOURNAL OF OPHTHALMOLOGY (2011)
Information for genetic management of mtDNA disease: sampling pathogenic mtDNA mutants in the human germline and in placenta
D. Marchington et al.
JOURNAL OF MEDICAL GENETICS (2010)
174th ENMC International Workshop: Applying pre-implantation genetic diagnosis to mtDNA diseases: Implications of scientific advances 19-21 March 2010, Naarden, The Netherlands
J. Poulton et al.
NEUROMUSCULAR DISORDERS (2010)
Leigh Syndrome: Clinical and Neuroimaging Follow-Up
Hsiu-Fen Lee et al.
PEDIATRIC NEUROLOGY (2009)
Preventing transmission of maternally inherited mitochondrial DNA diseases
Joanna Poulton et al.
BMJ-BRITISH MEDICAL JOURNAL (2009)
Aneuploidy in the miscarriages of infertile women and the potential benefit of preimplanation genetic diagnosis
Ruth B. Lathi et al.
FERTILITY AND STERILITY (2008)
Leigh and Leigh-Like Syndrome in Children and Adults
Josef Finsterer
PEDIATRIC NEUROLOGY (2008)
Cytogenetic study of spontaneous abortions using semi-direct analysis of chorionic villi samples detects the broadest spectrum of chromosome abnormalities
Carme Morales et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)
The development of novel quantification assay for mitochondrial DNA heteroplasmy aimed at preimplantation genetic diagnosis of Leigh encephalopathy
Hiroto Tajima et al.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS (2007)
Population prevalence of the MELAS A3243G mutation
Neil Manwaring et al.
MITOCHONDRION (2007)
Embryo morphology and development are dependent on the chromosomal complement
M. Cristina Magli et al.
FERTILITY AND STERILITY (2007)
Tissue specific distribution of the 3243A→G mtDNA mutation
A. L. Frederiksen et al.
JOURNAL OF MEDICAL GENETICS (2006)
Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis
J Steffann et al.
JOURNAL OF MEDICAL GENETICS (2006)
Single cell quantification of the 8993T>G NARP mitochondrial DNA mutation by fluorescent PCR
N Gigarel et al.
MOLECULAR GENETICS AND METABOLISM (2005)
Mitochondrial disorders: Prevalence, myths and advances
DR Thorburn
JOURNAL OF INHERITED METABOLIC DISEASE (2004)
Conception to ongoing pregnancy: the 'black box' of early pregnancy loss
NS Macklon et al.
HUMAN REPRODUCTION UPDATE (2002)
Random genetic drift determines the level of mutant mtDNA in human primary oocytes
DT Brown et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Genetic aspects of miscarriage
M Goddijn et al.
BEST PRACTICE & RESEARCH IN CLINICAL OBSTETRICS & GYNAECOLOGY (2000)