About: Jean-Paul Bonnefont

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An Entity of Type : foaf:Person, within Data Space : data.idref.fr associated with source document(s)

Attributes	Values
type	Person
sameAs	Bonnefont, Jean-Paul Bonnefont, Jean-Paul Bonnefont, Jean-Paul Bonnefont, Jean-Paul
bnf-onto:FRBNF	13336634(xsd:integer)
preferred label	Bonnefont, Jean-Paul
name	Jean-Paul Bonnefont
dbpedia-owl:citizenship	http://sws.geonames.org/3017382/
Language	http://lexvo.org/id/iso639-3/fra
isni:identifierValid	000000000171708X
Given name	Jean-Paul
familyName	Bonnefont
note	Médecin, Groupe hospitalier Necker-Enfants malades, Département de génétique (en 1998)
ORCID iD	0000-0002-4235-1197
is sameAs of	Bonnefont, Jean-Paul Bonnefont, Jean-Paul Bonnefont, Jean-Paul Bonnefont, Jean-Paul
is Thesis advisor of	http://www.sudoc.fr/175344663/id
is Author of	Méthodes d'étude et d'analyse du génome http://www.sudoc.fr/004508157/id http://www.sudoc.fr/151337772/id http://www.sudoc.fr/042916011/id Pattern dystrophy in a female carrier of RP2 mutation MECP2 mutation in non-fatal, non-progressive encephalopathy in a male Xq25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance. Bezafibrate for an Inborn Mitochondrial Beta-Oxidation Defect Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis Searching for secondary findings: considering actionability and preserving the right not to know Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti. Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias. A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency Altered expression of fragile X mental retardation-1 (FMR1) in the thymus in autoimmune myasthenia gravis Clinical presentation of mitochondrial disorders in childhood Relative Frequencies of Inherited Retinal Dystrophies and Optic Neuropathies in Southern France: Assessment of 21-year Data Management Should the beneficial impact of bezafibrate on fatty acid oxidation disorders be questioned? Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal development Long-Term Follow-Up of Bezafibrate Treatment in Patients With the Myopathic Form of Carnitine Palmitoyltransferase 2 Deficiency Pitfalls in molecular diagnosis of Friedreich ataxia http://www.sudoc.fr/175948860/id https://serval.unil.ch/notice/serval:BIB_08C9E1B19BCA#id Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form. Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase-1 deficiency A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome Clinical aspects of mitochondrial disorders Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features Stability of the m.8993T→G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome Prenatal diagnosis and normal outcome of a 46,XX/46,XY chimera: A Case Report Only four genes (EDA1, EDAR, EDARADD and WNT10A) account for 90 % of hypohidrotic/anhidrotic ectodermal dysplasia cases Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders Potential of fibrates in the treatment of fatty acid oxidation disorders: Revival of classical drugs? Trinucleotide repeat contraction: a pitfall in prenatal diagnosis of myotonic dystrophy Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency Multiple displacement amplification improves PGD for fragile X syndrome Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients Characterization of fatty acid oxidation in human muscle mitochondria and myoblasts Incidence and clinical features of X-linked Cornelia de Lange syndrome due toSMC1L1 mutations http://hub.abes.fr/edp/periodical/medsci/2010/volume_26/issue_11/medsci20102611p897/w Evidence of diaphragmatic dysfunction with severe alveolar hypoventilation syndrome in mitochondrial respiratory chain deficiency Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller’s dementia infantilis, a rare subtype of autism spectrum disorder Correction of Fatty Acid Oxidation in Carnitine Palmitoyl Transferase 2-Deficient Cultured Skin Fibroblasts by Bezafibrate
is primary topic of	http://www.idref.fr/035788011
is Opponent of	http://www.sudoc.fr/24216756X/id
is Thesis referee of	http://www.sudoc.fr/190128542/id http://www.sudoc.fr/185136680/id http://www.sudoc.fr/253890969/id

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