J. Bonnefont

发表

Trinucleotide repeat contraction: a pitfall in prenatal diagnosis of myotonic dystrophy

A. Munnich, J. Amiel, M. Dommergues, 2001, Journal of medical genetics.

Improvement of cystic fibrosis using antitumoral drugs: a hypothesis.

A. Munnich, S. Lyonnet, L. Faivre, 2000, Medical hypotheses.

A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency

A. Munnich, D. Galanaud, N. Boddaert, 2010, Journal of Medical Genetics.

Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome.

L. Shaffer, T. Esposito, M. D'urso, 2001, American journal of human genetics.

Mitochondrial diabetes mellitus.

A. Munnich, A. Rötig, J. Bonnefont, 1996, Diabetes & metabolism.

Recurrent Williams-Beuren syndrome in a sibship suggestive of maternal germ-line mosaicism.

A. Munnich, S. Lyonnet, M. Vekemans, 1999, American journal of human genetics.

Cervical trophoblasts for non-invasive single-cell genotyping and prenatal diagnosis.

R. Frydman, A. Benachi, B. Lacour, 2016, Placenta.

A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome.

A. Munnich, A. Rötig, C. Guillermet, 2012, Biochimica et biophysica acta.

Clinical and Genetic Study of Algerian Patients with Spinal Muscular Atrophy

A. Munnich, M. Magen, J. Bonnefont, 2013, Journal of neurodegenerative diseases.

Clinical Study Clinical and Genetic Study of Algerian Patients with Spinal Muscular Atrophy

A. Munnich, M. Magen, J. Bonnefont, 2015 .

Prenatal diagnosis of spinal muscular atrophy by genetic analysis of circulating fetal cells

C. Béroud, A. Benachi, P. Paterlini-Bréchot, 2003, The Lancet.

Clinical presentation of mitochondrial disorders in childhood

T. Bourgeron, A. Munnich, P. Rustin, 1996, Journal of Inherited Metabolic Disease.

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.

Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.

F. Ledeist, P. Rustin, A. Rötig, 1990, The Journal of clinical investigation.

Clinical approach to inherited metabolic diseases in the neonatal period: A 20-year survey

A. Munnich, J. Frézal, D. Rabier, 1989, Journal of Inherited Metabolic Disease.

[Pearson's syndrome. Pancytopenia with exocrine pancreatic insufficiency: new mitochondrial disease in the first childhood].

A. Rötig, O. Goulet, S. Blanche, 1991, Archives francaises de pediatrie.

The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.

A. Munnich, N. Boddaert, A. Rötig, 2009, Molecular genetics and metabolism.

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.

MITOCHONDRIAL DNA DELETION IN PEARSON'S MARROW/PANCREAS SYNDROME

A. Munnich, A. Rötig, A. Rotig, 1989, The Lancet.

Increased incidence of obstetric complications in women carrying mitochondrial DNA mutations: a retrospective cohort study in a single tertiary centre

A. Munnich, Y. Ville, J. Steffann, 2019, BJOG : an international journal of obstetrics and gynaecology.

Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy.

A. Munnich, P. Rustin, A. Rötig, 1994, The Journal of pediatrics.

Novel CFTR mutations in black cystic fibrosis patients

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

Tuberous sclerosis (TSC)

A. Munnich, J. Steffann, J. Bonnefont, 2011 .

[Sulfite oxidase deficiency presenting as Leigh syndrome].

A. Munnich, D. Rabier, J. Saudubray, 1994, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.