J. Bonnefont

发表

Infantile Form of Carnitine Palmitoyltransferase 11 Deficiency with Hepatomuscular Symptoms and Sudden Death

F. Demaugre, C. Cepanec, M. Colonna, 2022 .

Altered expression of fragile X mental retardation-1 (FMR1) in the thymus in autoimmune myasthenia gravis

E. Fadel, S. Berrih-Aknin, F. Truffault, 2021, Journal of neuroinflammation.

Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome

M. Fichera, C. Romano, N. Philip, 1999, Journal of medical genetics.

Long‐Term Follow‐Up of Bezafibrate Treatment in Patients With the Myopathic Form of Carnitine Palmitoyltransferase 2 Deficiency

P. Laforêt, B. Eymard, A. Béhin, 2010, Clinical pharmacology and therapeutics.

Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal development

E. Rossignol, M. Brivet, Ivan Shelihan, 2021, JIMD reports.

Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France

C. Clavel, M. Claustres, C. Férec, 2000, Human mutation.

Incidence and clinical features of X-linked Cornelia de Lange syndrome due toSMC1L1 mutations

A. Munnich, L. Colleaux, G. Borck, 2019 .

Improved Fluorescent PCR-Based Assay for Sizing CGG Repeats at the FRAXA Locus

C. Houdayer, M. Gérard, T. D. de Villemeur, 1999, Clinical chemistry and laboratory medicine.

Prenatal diagnosis of Sjögren‐Larsson syndrome using enzymatic methods

W. Rizzo, J. Schulman, S. Black, 1994, Prenatal diagnosis.

Deficiency of Carnitine Palmitoyltransferase I

W. Nyhan, J. Saudubray, J. Carroll, 1989, Journal of child neurology.

Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations

M. D'urso, A. Smahi, S. Rabia, 2008, Human mutation.

Searching for secondary findings: considering actionability and preserving the right not to know

A. Munnich, S. Julia, P. Calvas, 2019, European Journal of Human Genetics.

Altered expression of fragile X mental retardation-1 (FMR1) in the thymus in autoimmune myasthenia gravis

E. Fadel, S. Berrih-Aknin, F. Truffault, 2021, Journal of neuroinflammation.

Genetic characterisation of circulating fetal cells allows non‐invasive prenatal diagnosis of cystic fibrosis

A. Munnich, A. Benachi, B. Lacour, 2006, Prenatal diagnosis.

Methylenetetrahydrofolate reductase deficiency: Prenatal diagnosis and family studies

J. Saudubray, J. Zittoun, J. Marquet, 1994, Prenatal diagnosis.

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

A. Munnich, A. Schinzel, J. Amiel, 2001, 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.

Recognition and management of fatty acid oxidation defects: A series of 107 patients

D. Rabier, P. Kamoun, J. Saudubray, 1999, Journal of Inherited Metabolic Disease.

Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy.

C. Junien, F. Brunelle, J. Saudubray, 1997, The Journal of clinical investigation.

Diffuse and Focal Nesidioblastosis: A Clinicopathological Study of 24 Patients with Persistent Neonatal Hyperinsulinemic Hypoglycemia

G. Klöppel, J. Saudubray, J. Bonnefont, 1989, The American journal of surgical pathology.

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

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

Clinical aspects of mitochondrial disorders

A. Munnich, P. Rustin, A. Rötig, 1992, 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.

Human trifunctional protein deficiency: a new disorder of mitochondrial fatty acid beta-oxidation.

A. Munnich, R. Wanders, D. Rabier, 1992, Biochemical and biophysical research communications.

Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies.

J. Saudubray, J. Bonnefont, F. Demaugre, 1991, The Journal of clinical investigation.

Clinical outcome and long-term management of 17 patients with propionic acidaemia

D. Rabier, P. Parvy, P. Kamoun, 1996, European Journal of Pediatrics.

The fasting test in paediatrics: Application to the diagnosis of pathological hypo- and hyperketotic states

A. Munnich, J. Saudubray, A. Lombès, 1990, European Journal of Pediatrics.

Hyperketotic states due to inherited defects of ketolysis.

J. Saudubray, A. Lombès, C. Jakobs, 1987, Enzyme.

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.

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.

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.

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

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

Clinical presentation of mitochondrial disorders in childhood

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

Defects in activation and transport of fatty acids

D. Rabier, J. Saudubray, A. Slama, 1999, Journal of Inherited Metabolic Disease.

Genetic hypoglycaemia in infancy and childhood: Pathophysiology and diagnosis

D. Rabier, P. Kamoun, J. Saudubray, 2000, Journal of Inherited Metabolic Disease.

Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane.

C. Stanley, D. Hale, G. Berry, 1992, The New England journal of medicine.

MITOCHONDRIAL DNA DELETION IN PEARSON'S MARROW/PANCREAS SYNDROME

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

Prenatal diagnosis of cystic fibrosis

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

Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations

M. D'urso, A. Smahi, C. Bodemer, 2008, Human mutation.

Clinical and Genetic Study of Algerian Patients with Spinal Muscular Atrophy

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

Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia.

D. Rabier, P. Parvy, P. Kamoun, 1994, The Journal of pediatrics.

Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis.

A Vassault, A. Munnich, P. Rustin, 1992, The Journal of pediatrics.

Does the polymorphism 677C-T of the 5,10-methylenetetrahydrofolate reductase gene contribute to homocysteine-related vascular disease?

G. Montalescot, P. Kamoun, B. Chadefaux-Vekemans, 1998, Journal of Inherited Metabolic Disease.

Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community.

J. Girard, C. Greenberg, P. Kamoun, 2001, Molecular genetics and metabolism.

Hepatic carnitine palmitoyl transferase 1 (CPT1 A) deficiency in North American Hutterites (Canadian and American): evidence for a founder effect and results of a pilot study on a DNA-based newborn screening program.

J. Thompson, C. Greenberg, C. Prasad, 2001, Molecular genetics and metabolism.

Carnitine palmitoyltransferase deficiencies.

J. Saudubray, J. Bonnefont, J M Saudubray, 1999, Molecular genetics and metabolism.

Post-mortem MRI reveals CPT2 deficiency after sudden infant death

L. Pontual, N. Sellier, J. Bonnefont, 2010, European Journal of Pediatrics.

Long‐Term Follow‐Up of Bezafibrate Treatment in Patients With the Myopathic Form of Carnitine Palmitoyltransferase 2 Deficiency

P. Laforêt, B. Eymard, A. Béhin, 2010, Clinical pharmacology and therapeutics.

A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome

L. Pasquier, L. Faivre, S. Blesson, 2016, Clinical genetics.

mtDNA mutations variously impact mtDNA maintenance throughout the human embryofetal development

J. Steffann, J. Bonnefont, S. Monnot, 2015, Clinical genetics.

Recurrent meiotic nondisjunction of maternal chromosome 15 in a sibship.

A. Munnich, J. Harpey, J. Bonnefont, 1998, American journal of medical genetics.

Ornithine carbamoyltransferase deficiency. A new variant with subnormal enzyme activity.

D. Rabier, P. Kamoun, J. Saudubray, 1989, Clinica chimica acta; international journal of clinical chemistry.

Multiple displacement amplification improves PGD for fragile X syndrome.

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

Enrichment, immunomorphological, and genetic characterization of fetal cells circulating in maternal blood.

A. Benachi, B. Lacour, G. Vona, 2002, The American journal of pathology.

Short Communication Enrichment, Immunomorphological, and Genetic Characterization of Fetal Cells Circulating in Maternal Blood

G. Vona, J. Bonnefont, Alice Quenette, 2002 .

Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival

A. Munnich, N. Boddaert, A. Rötig, 2020 .