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List of works by Jean-Paul Bonnefont

A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma

scientific article published on 01 January 1996

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

scientific article published on 23 October 2010

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

scientific article

A new pitfall in plasma amino acid analysis

scientific article published on 01 January 1989

A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti

scientific article published on 01 May 2004

A novel arginine (245) to glutamine change in exon 8 of the ornithine carbamoyl transferase gene in two unrelated children presenting with late onset deficiency and showing the same enzymatic pattern.

scientific article published in May 1994

A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency

scientific article (publication date: March 2005)

A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome

scientific article

A rare case report of simultaneous presentation of myopathy, Addison's disease, primary hypoparathyroidism, and Fanconi syndrome in a child diagnosed with Kearns-Sayre syndrome.

scientific article published on 9 August 2012

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

scientific article published on 24 December 2015

A simple isotopic technique for assessing vitamin responsivenessin vivo in propionic acidaemia

scientific article published on 01 January 1990

Activation of RNA metabolism-related genes in mouse but not human tissues deficient in SMN

article

Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis ⬇️

scientific article published on August 1, 1992

An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature

scientific article published on 21 September 2016

Approach to the patient with a fatty acid oxidation disorder

scientific article published on January 1, 1992

Aqueous humour, a possible material for postmortem methylmalonic acidaemia diagnosis

scientific article published on 01 January 1989

Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency.

scientific article

Attempt at therapy in sulphite oxidase deficiency

scientific article published on 01 January 1989

Bacterial contamination of Mediterranean coastal seawater as affected by riverine inputs: simulation approach applied to a shellfish breeding area (Thau lagoon, France)

article

Bezafibrate for an inborn mitochondrial beta-oxidation defect.

scientific article published in February 2009

Bilateral amastia in a female with X-linked hypohidrotic ectodermal dysplasia.

scientific article published on 11 August 2014

Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller's dementia infantilis, a rare subtype of autism spectrum disorder.

scientific article published on 21 October 2015

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

scientific article published on 11 November 2015

Characterization of fatty acid oxidation in human muscle mitochondria and myoblasts.

scientific article

Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake ⬇️

scientific article published on November 1, 1991

Chronology of reported denaturing high performance liquid chromatography (DHPLC)-based prenatal diagnoses

scientific article published on 01 January 2003

Circulating trophoblastic cells provide genetic diagnosis in 63 fetuses at risk for cystic fibrosis or spinal muscular atrophy ⬇️

scientific article published on August 31, 2012

Clinical Utility Gene Card for: incontinentia pigmenti

scientific article published on 10 October 2012

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

scientific article published on 24 March 2013

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

scientific article published on 01 January 1989

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

scientific article published on March 1996

Clinical presentation of mitochondrial disorders in childhood.

scientific article published on January 1996

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

Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency.

scientific article

Cytochrome c oxidase deficiency presenting as recurrent neonatal myoglobinuria ⬇️

scientific article published on July 1, 1995

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

scientific article published in May 2014

Deficiency of carnitine palmitoyltransferase I.

scientific article published in July 1989

Diagnostic préimplantatoire avec typage HLA : naissance du premier enfant du double espoir en France

article

Diagnostic prénatal de la polykystose rénale récessive autosomique

scientific article published on 01 September 2000

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

scientific article published in December 1998

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

scientific article published on January 2002

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

scientific article published on March 1999

Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C6–C14 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation?

scientific article published on 01 January 1988

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition

scientific article

Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5' untranslated region of the NIPBL Gene

scientific article published on August 2006

First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiency

scientific article published on 01 December 2000

Functional and structural basis of carnitine palmitoyltransferase 1A deficiency.

scientific article published on 29 September 2003

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

scientific article published on 01 October 2006

Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form

scientific article published on 19 October 2013

Genetic hypoglycaemia in infancy and childhood: pathophysiology and diagnosis.

scientific article

Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population

scientific article published on 28 September 2016

Genotype/phenotype correlation in carnitine palmitoyl transferase II deficiency: lessons from a compound heterozygous patient

scientific article published on 01 March 2000

Glutathione S-transferases related to P. aeruginosa lung infection in cystic fibrosis children: preliminary study

scientific article published on 17 October 2008

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

article

Hepatic and muscular forms of palmitoyl carnitine transferase deficiency.

scientific article published on January 1990

Hepatic failure in disorders of oxidative phosphorylation with neonatal onset

scientific article published on 01 December 1991

Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

scientific article published on 12 January 2013

Human trifunctional protein deficiency: A new disorder of mitochondrial fatty acid β-oridation

scientific article published on 01 November 1992

Identification of a novel mutation, 1087delT, in exon 7 of the CFTR gene in a patient with cystic fibrosis

article

Improved fluorescent PCR-based assay for sizing CGG repeats at the FRAXA locus.

scientific article published in April 1999

Improvement of cystic fibrosis using antitumoral drugs: a hypothesis.

scientific article

Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations

scientific article published on February 2007

Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease

scientific article published on 12 December 2013

Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?

scientific article published on 30 November 2011

Keratotic follicular plugs with calcifications in Conradi-Hünermann-Happle syndrome: histological, biochemical and genetic testing correlation

scientific article published on 05 October 2015

L'essor de la génetique: quels bénéfices pour les enfants?

scientific article published on 01 January 1996

LOCALISATION OF FOCAL LESION PERMITTING PARTIAL PANCREATECTOMY IN INFANTS

scientific article published in The Lancet

La β-oxydation mitochondriale des acides gras : une voie métabolique essentielle du fonctionnement musculaire

scientific article published on 01 May 2002

Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti

scientific article published on 26 February 2017

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.

scientific article published on 30 September 2015

Long-term follow-up of bezafibrate treatment in patients with the myopathic form of carnitine palmitoyltransferase 2 deficiency.

scientific article published on 26 May 2010

Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias

scientific article

Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.

scientific article

Methylenetetrahydrofolate reductase deficiency: Prenatal diagnosis and family studies

scientific article published on 01 January 1994

Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy

scientific article published on 01 January 1994

Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH.

scientific article published on 4 November 2012

Most cases of medium-chain acyl-CoA dehydrogenase deficiency escape detection in France

scientific article published on 01 March 1996

Multiple displacement amplification improves PGD for fragile X syndrome.

scientific article published on 8 August 2006

Mutation analysis of the hamartin gene using denaturing high performance liquid chromatography

scientific article published on 01 November 2000

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

scientific article

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

scientific article

Myeloperoxidase promoter polymorphism -463G is associated with more severe clinical expression of cystic fibrosis pulmonary disease.

scientific article

NDP gene mutations in 14 French families with Norrie disease

scientific article published in December 2003

NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications

scientific article published on 18 July 2012

Nasal polyposis and cystic fibrosis(CF): review of the literature.

scientific article published on August 2011

New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria.

scientific article

No correlation between mtDNA amount and methylation levels at the CpG island of POLG exon 2 in wild-type and mutant human differentiated cells

scientific article published on 9 January 2017

Normal muscle CPT1 and CPT2 activities in hepatic presentation patients with CPT1 deficiency in fibroblasts. Tissue specific isoforms of CPT1?

scientific article

Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children

scientific article

Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases

scientific article published in January 2011

Organic acids in aqueous humour and plasma: Post mortem study in infants and diagnosis of enzymopathies ⬇️

scientific article published on January 1, 1991

Ornithine carbamoyltransferase deficiency. A new variant with subnormal enzyme activity

scientific article published on 01 December 1989

Parental mosaicism is a pitfall in preimplantation genetic diagnosis of dominant disorders

scientific article published on 11 September 2013

Pathophysiological approach to carnitine palmitoyltransferase II deficiencies

scientific article published on January 1, 1992

Pattern dystrophy in a female carrier of RP2 mutation

scientific article published on 17 February 2016

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

scientific article

Potential of fibrates in the treatment of fatty acid oxidation disorders: Revival of classical drugs?

scientific article published on 01 April 2006

Prenatal diagnosis and normal outcome of a 46,XX/46,XY chimera: a case report.

scientific article published in February 2007

Prenatal diagnosis of Sjögren-Larsson syndrome using enzymatic methods.

scientific article published in July 1994

Prenatal diagnosis of a ring chromosome 14 in a fetus with a severe skeletal dysplasia

scientific article published in January 2008

Prenatal diagnosis of carnitine palmitoyltransferase 2 deficiency in chorionic villi: a novel approach

scientific article published in November 2003

Prenatal diagnosis of propionic acidemia: Amniocentesis at the 11th week of pregnancy

scientific article published on 01 June 1989

Prenatal diagnosis of respiratory chain deficiency by direct mutation screening

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

scientific article published in The Lancet

Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations

article

Prévenir la transmission des mutations de l’ADN mitochondrial : mythe ou réalité ?

article

RPL10mutation segregating in a family with X-linked syndromic Intellectual Disability

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

scientific article

Recurrent meiotic nondisjunction of maternal chromosome 15 in a sibship

scientific article published on 01 February 1998

Refined characterization of the expression and stability of the SMN gene products.

scientific article published on 23 August 2007

Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management.

scientific article

Renal involvement in lysinuric protein intolerance: contribution of pathology to assessment of heterogeneity of renal lesions.

scientific article published on 10 January 2017

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

scientific article

Should the beneficial impact of bezafibrate on fatty acid oxidation disorders be questioned?

Should the chromosome region 15q11q13 be tested systematically by FISH in the case of an autistic-like syndrome?

scientific article published in April 2002

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

scientific article published on 09 December 2004

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

scientific article

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

scientific article published on August 15, 1997

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

article

Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.

scientific article published in May 2009

Substrate disposal in metabolic disease: A comparison between rates of in vivo propionate oxidation and urinary metabolite excretion in children with methylmalonic acidemia

article

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

scientific article published on 27 March 2009

Three-dimensional ultrasound prenatal diagnosis of congenital ichthyosis: contribution of molecular biology

scholarly article by Claire Tourette published in April 2012

Tolerance to starvation in children on long-term total parenteral nutrition.

scientific article published in June 1997

Un test de la sueur normal n'exclut pas le diagnostic de mucoviscidose

scientific article published on 01 June 2000

Unique subungueal keratoacanthoma revealing incontinentia pigmenti

scientific article published on 21 September 2015

Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood

scientific article published on 5 January 2017

Urgent needs in genetics: clinical diagnosis of acute amino acid disorders of delayed onset

scientific article published in December 1989

Xq25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance.

scientific article

[Association of an uncombable hair syndrome and Wilson's disease]

scientific article published on 01 April 1984

[Mitochondrial diabetes]

scientific article published on 01 January 1997

[Positive diagnosis of Leber's hereditary optic neuropathy using molecular genetics]

scientific article published on 01 January 1997

[Respiratory chain diseases in infancy. Clinical presentation and diagnosis]

scientific article published on 01 November 1989

[Scleroderma-like lesions and phenylketonuria (PKU). Role of hyperphenylalaninemia, efficacy of diet (3 cases)]

scientific article published on 01 January 1989

[Sudden infant death syndrome]

scientific article published on 01 January 1990

[Sulfite oxidase deficiency presenting as Leigh syndrome]

scientific article published on 01 November 1994

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

scientific article published on 01 April 2011

[Variable clinical expression of familial Incontinentia Pigmenti syndrome - presentation of three cases]

scientific article published on 01 July 2008

mtDNA mutations variously impact mtDNA maintenance throughout the human embryofetal development

scientific article

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