N. Gigarel

发表

Single-sperm analysis for recurrence risk assessment of spinal muscular atrophy

A. Munnich, A. Benachi, P. Burlet, 2010, European Journal of Human Genetics.

Segregation of mtDNA Throughout Human Embryofetal Development: m.3243A > G as a Model System

A. Munnich, N. Frydman, R. Frydman, 2010, Human mutation.

Preimplantation genetic diagnosis for autosomal recessive polycystic kidney disease.

A. Munnich, N. Frydman, R. Fanchin, 2008, Reproductive biomedicine online.

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

A. Munnich, N. Frydman, R. Fanchin, 2005, Journal of Medical Genetics.

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

A. Munnich, N. Frydman, R. Frydman, 2013, Human molecular genetics.

Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance.

A. Munnich, D. Lacombe, S. Lyonnet, 2002, American journal of medical genetics.

Multiple displacement amplification improves PGD for fragile X syndrome.

A. Munnich, N. Frydman, R. Frydman, 2006, Molecular human reproduction.

A novel microsatellite DNA marker at locus D7S1870 detects hemizygosity in 75% of patients with Williams syndrome.

N. Philip, A. Verloes, B. Gilbert-Dussardier, 1995, American journal of human genetics.

Single cell co-amplification of polymorphic markers for the indirect preimplantation genetic diagnosis of hemophilia A, X-linked adrenoleukodystrophy, X-linked hydrocephalus and incontinentia pigmenti loci on Xq28

A. Munnich, N. Frydman, R. Frydman, 2004, Human Genetics.

Improved single-cell protocol for preimplantation genetic diagnosis of spinal muscular atrophy.

A. Munnich, N. Frydman, R. Frydman, 2005, Fertility and sterility.

NDP gene mutations in 14 French families with Norrie disease

A. Munnich, S. Hanein, J. Steffann, 2003, Human mutation.

Poor correlations in the levels of pathogenic mitochondrial DNA mutations in polar bodies versus oocytes and blastomeres in humans.

A. Munnich, N. Frydman, R. Frydman, 2011, American journal of human genetics.

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

A. Munnich, R. Frydman, J. Steffann, 2007, Journal of Medical Genetics.

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

A. Munnich, A. Rötig, A. Benachi, 2006, Journal of Medical Genetics.

Data from artificial models of mitochondrial DNA disorders are not always applicable to humans.

A. Munnich, N. Frydman, R. Frydman, 2014, Cell reports.

Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy.

A. Munnich, P. Rustin, A. Rötig, 2000, American journal of human genetics.

Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome

A. Munnich, G. Meroni, D. Lacombe, 2004, Journal of Medical Genetics.

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

J. Grosgeorge, C. Turc‐Carel, G. Lenaers, 2000, Nature Genetics.

OTC deficiency in females: Phenotype‐genotype correlation based on a 130‐family cohort

A. Munnich, F. Reyal, J. Steffann, 2021, Journal of inherited metabolic disease.

[Extending preimplantation genetic diagnosis to HLA typing: the French exception].

A. Munnich, N. Frydman, R. Frydman, 2011, Bulletin de l'Academie nationale de medecine.

[Ten years' experience of preimplantation genetic diagnosis in Paris: remaining obstacles and potential solutions].

A. Munnich, R. Fanchin, P. Burlet, 2011, Bulletin de l'Academie nationale de medecine.

First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiency

A. Munnich, N. Frydman, R. Frydman, 2000, Prenatal diagnosis.

Prenatal Diagnosis of Sporadic Apert Syndrome: A Sequential Diagnostic Approach Combining Three-Dimensional Computed Tomography and Molecular Biology

P. Sonigo, J. Amiel, M. Dommergues, 2000, Fetal Diagnosis and Therapy.

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

A. Munnich, A. Toutain, H. Dollfus, 2007, Human mutation.

A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disorders

A. Munnich, Y. Ville, A. Rötig, 2020, Genetics in Medicine.

Novel CFTR mutations in black cystic fibrosis patients

J. Steffann, I. Sermet, G. Lenoir, 2004, Clinical genetics.

Successful pre‐implantation genetic diagnosis for Hirschsprung disease

A. Munnich, N. Frydman, R. Frydman, 2011, Clinical genetics.

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

A. Munnich, N. Frydman, R. Frydman, 2005, Molecular genetics and metabolism.

Prezygotic origin of the isochromosome 12p in Pallister-Killian syndrome.

A. Munnich, S. Lyonnet, M. Vekemans, 1997, American journal of medical genetics.

Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene

A. Munnich, E. Souied, J. Dufier, 2002, Journal of medical genetics.

Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis of mtDNA disorders

A. Munnich, Y. Ville, C. Elie, 2017, Journal of Medical Genetics.

Diagnostic prénatal de la polykystose rénale récessive autosomique

A. Munnich, C. Antignac, M. Gubler, 2000 .

O▪26 Preimplantation diagnosis of the NARP mitochondrial DNA mutation

A. Munnich, N. Frydman, R. Frydman, 2005 .

Prenatal diagnosis of cystic fibrosis

A. Munnich, N. Gigarel, M. Briard, 1997, Pediatric pulmonology. Supplement.