About: Laurence Olivier-Faivre

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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	Olivier-Faivre, Laurence (1957-....) Olivier-Faivre, Laurence (1957-....)
alternative label	Faivre, Laurence
Life Event	http://www.idref.fr/070143862/birth
preferred label	Olivier-Faivre, Laurence (1957-....)
name	Laurence Olivier-Faivre
dbpedia-owl:citizenship	http://sws.geonames.org/3017382/
Language	http://lexvo.org/id/iso639-3/fra
isni:identifierValid	0000000432151567
Given name	Laurence
familyName	Olivier-Faivre
has biographical i...tion (Deprecated)	Professeur des universités-praticien hospitalier (PUPH), Génétique médicale, Centre Hospitalier Université de Bourgogne, Dijon (en 2020). Docteur en génétique (en 2002). Membre du Centre de Génétique - Centre de référence des maladies rares, rattaché au CHU Dijon Bourgogne (en 2020). Directrice d'une thèse en biochimie et biologie moléculaire (Dijon ,2020).
gender	female
Scopus ID	7003645330
is sameAs of	Olivier-Faivre, Laurence (1957-....) Olivier-Faivre, Laurence (1957-....) Olivier-Faivre, Laurence (1957-....) Olivier-Faivre, Laurence (1957-....) Olivier-Faivre, Laurence (1957-....) Olivier-Faivre, Laurence (1957-....)
is Thesis advisor of	http://www.sudoc.fr/170005801/id http://www.sudoc.fr/195795539/id http://www.sudoc.fr/195756622/id http://www.sudoc.fr/074703080/id http://www.sudoc.fr/119288435/id http://www.sudoc.fr/185215173/id http://www.sudoc.fr/144138395/id http://www.sudoc.fr/07014396X/id http://www.sudoc.fr/149730551/id http://www.sudoc.fr/162214286/id http://www.sudoc.fr/182283399/id Bases moléculaires et physiopathologiques de syndromes avec anomalies du développement et déficience intellectuelle http://www.sudoc.fr/235375683/id Approches bioinformatiques innovantes pour l'analyse de données de séquençage à haut-débit appliquées à l'étude de pathologies génétiques rares avec anomalies du développement http://www.sudoc.fr/263073858/id Etude phénotypique, cytogénétique et moléculaire des syndromes orofaciodigitaux Caractérisation phénotypique et moléculaire des dysplasies frontonasales http://www.sudoc.fr/24519925X/id La place du médecin généraliste au sein du parcours de soins des patients porteurs de maladies rares, exemple des patients de la filière AnDDi-Rares http://www.sudoc.fr/279471211/id http://www.sudoc.fr/249475308/id Caractérisation génomique des anomalies de la pigmentation cutanée en mosaïque 10 ans de données de la filière AnDDI-Rares via la base de données de la BNDMR, une ressource unique pour faciliter la recherche et l’épidémiologie dans les anomalies du développement en France http://www.sudoc.fr/249474840/id http://www.sudoc.fr/235375489/id http://www.sudoc.fr/248735667/id Manifestations cliniques et neuroradiologiques d’une cohorte française de 33 patients atteints du syndrome MCAP permettant de définir des critères d’évaluation pertinents en vue d’essais thérapeutiques http://www.sudoc.fr/242726100/id Identification de mutations post-zygotiques associées à des anomalies du développement avec mosaïcisme cutané http://www.sudoc.fr/256317143/id http://www.sudoc.fr/249819465/id http://www.sudoc.fr/256317291/id http://www.sudoc.fr/242517161/id Optimisation du taux de diagnostics en séquençage d'exome dans le trouble du spectre de l'autisme à l'aide d'épisignatures http://www.sudoc.fr/24716822X/id http://www.sudoc.fr/263360598/id http://www.sudoc.fr/248723545/id http://www.sudoc.fr/276939794/id http://www.sudoc.fr/277423139/id http://www.sudoc.fr/281115117/id
is Author of	http://www.sudoc.fr/073931357/id http://www.sudoc.fr/049533533/id http://www.sudoc.fr/042353262/id http://www.sudoc.fr/107186748/id Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. Malignant transformation of presacral mass in Currarino syndrome Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy. Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation Author Correction : A framework to identify contributing genes in patients with Phelan-McDermid syndrome Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic Cardiomyopathy Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond–like features Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation. Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities Etude clinique et cartographie génétique des dysplasies microméliques rares avec petite taille Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders Novel FH mutations in families with hereditary leiomyomatosis renal cell cancer (HLRCC) and in patients with isolated type 2 papillary renal cell carcinoma The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders HIST1H1E heterozygous protein‐truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical management. Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing WWOX -related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test 16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy. Smith‐Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome Isolated familial choanal atresia: a new entity in the phenotypic spectrum of KMT2D gene New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects. Safety and efficacy of low-dose PI3K inhibitor taselisib in adult patients with CLOVES and Klippel–Trenaunay syndrome (KTS): the TOTEM trial, a phase 1/2 multicenter, open-label, single-arm study In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses

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