Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy

Cécile Delettre, Guy Lenaers, Jean‐Michel Griffoin, +13

Nature Genetics

Neurodegenerative DiseasesMitochondrial FunctionOphthalmologyGenetic DisorderGenetics +7

Mutations of the SCO1 Gene in Mitochondrial Cytochrome c Oxidase Deficiency with Neonatal-Onset Hepatic Failure and Encephalopathy

Isabelle Valnot, Sandrine Osmond, Nadine Gigarel, +7

The American Journal of Human Genetics

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Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling

Valérie Pelletier, Marguerite Jambou, Nathalie Delphin, +12

Human Mutation

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

Sophie Monnot, Nadine Gigarel, David C. Samuels, +12

Human Mutation

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Mutation dependance of the mitochondrial DNA copy number in the first stages of human embryogenesis

Sophie Monnot, David C. Samuels, Laëtitia Hesters, +12

Human Molecular Genetics

DnaGeneticsHuman EmbryogenesisMolecular GeneticsEarly Embryos +20

Multiple displacement amplification improves PGD for fragile X syndrome

P Burlet, Nelly Frydman, Nadine Gigarel, +7

Molecular Human Reproduction

Multiple Displacement AmplificationGenetic TestingCytogeneticsGeneticsEmbryology +15

Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy

Cécile Delettre, Guy Lenaers, J-M Griffoin, +13

American Journal of Ophthalmology

Neurodegenerative DiseasesMitochondrial FunctionOphthalmologyGenetic DisorderGenetics +7

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

C Bouchet, Julie Steffann, Johanna Corcos, +12

Journal of Medical Genetics

Preimplantation genetic diagnosis for autosomal recessive polycystic kidney disease

Nadine Gigarel, Nelly Frydman, P Burlet, +7

Reproductive BioMedicine Online

UrologyMendelian DisorderPrenatal Genetic TestingMedicineGenetics +8

First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiency

Pierre F. Ray, Nadine Gigarel, Jean‐Paul Bonnefont, +6

Prenatal Diagnosis