Professeur des universités en sciences de gestion
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Diffuse large B-cell lymphomas with CDKN2A deletion have a distinct gene expression signature and a poor prognosis under R-CHOP treatment: a GELA study
- Type de publi. : Article dans une revue
- Date de publi. : 19/08/2010
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Auteurs :
Fabrice JardinJean-Philippe JaisThierry-Jo MolinaFrançoise ParmentierJean-Michel PicquenotPhilippe RuminyHervé TillyChristian BastardGilles-André SallesPierre FeugierCatherine ThieblemontChristian GisselbrechtAurélien de ReynièsBertrand CoiffierCorinne HaiounKaren Leroy
Fiche détaillée
Diffuse large B-cell lymphomas with CDKN2A deletion have a distinct gene expression signature and a poor prognosis under R-CHOP treatment: a GELA study
- Type de publi. : Article dans une revue
- Date de publi. : 19/08/2010
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Auteurs :
Fabrice JardinJean-Philippe JaisThierry-Jo MolinaFrançoise ParmentierJean-Michel PicquenotPhilippe RuminyHervé TillyChristian BastardGilles-André SallesPierre FeugierCatherine ThieblemontChristian GisselbrechtAurélien de ReynièsBertrand CoiffierCorinne HaiounKaren Leroy
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Organismes :
Groupe d'étude des proliférations lymphoïdes
Département d'Hématologie
Service informatique médicale et biostatistique
Département de Pathologie
Centre de Lutte Contre le Cancer Henri Becquerel Normandie Rouen
Groupe d'étude des proliférations lymphoïdes
Centre de Lutte Contre le Cancer Henri Becquerel Normandie Rouen
Groupe d'étude des proliférations lymphoïdes
Centre de Lutte Contre le Cancer Henri Becquerel Normandie Rouen
Groupe d'étude des proliférations lymphoïdes
Centre de Lutte Contre le Cancer Henri Becquerel Normandie Rouen
Groupe d'étude des proliférations lymphoïdes
Centre de Lutte Contre le Cancer Henri Becquerel Normandie Rouen
Groupe d'étude des proliférations lymphoïdes
Service d'Hématologie
Laboratoire de Biologie Moléculaire de la Cellule
Service d'Hématologie [CHRU Nancy]
Service d'hématologie-oncologie adultes
Service d'hématologie-oncologie adultes
"Cartes d'Identité des Tumeurs "
Service d'Hématologie
Laboratoire de Biologie Moléculaire de la Cellule
Service d'hématologie clinique
Service d'hématologie clinique
Institut Mondor de Recherche Biomédicale
- Publié dans Blood le 28/10/2020
Résumé : Genomic alterations play a crucial role in the development and progression of diffuse large B-cell lymphomas (DLBCLs). We determined gene copy number alterations (GCNAs) of TP53, CDKN2A, CDKN1B, BCL2, MYC, REL, and RB1 with a single polymerase chain reaction (PCR) assay (quantitative multiplex PCR of short fragments [QMPSF]) in a cohort of 114 patients with DLBCL to assess their prognostic value and relationship with the gene expression profile. Losses of TP53 and CDKN2A, observed in 8% and 35% of patients, respectively, were significantly associated with a shorter survival after rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone (R-CHOP) treatment, independently of the International Prognostic Index and of the cell of origin. Analysis of the 9p21 genomic region indicated that transcripts encoding p14ARF and p16INK4A were both disrupted in most patients with CDKN2A deletion. These patients predominantly had an activated B-cell profile and showed a specific gene expression signature, characterized by dysregulation of the RB/E2F pathway, activation of cellular metabolism, and decreased immune and inflammatory responses. These features may constitute the molecular basis sustaining the unfavorable outcome and chemoresistance of this DLBCL subgroup. Detection of TP53 and CDKN2A loss by QMPSF is a powerful tool that could be used for patient stratification in future clinical trials.
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Sex effect in mouse and human prion disease.
- Type de publi. : Article dans une revue
- Date de publi. : 15/08/2010
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Auteurs :
Corinne LoeuilletPierre-Yves BoëlleCatherine Lemaire-VieilleMarie BaldazzaPhilippe NaquetPierre ChambonM.F. Cesbron-DelauwAlain-Jacques ValleronJean GagnonJean-Yves Cesbron
Fiche détaillée
Sex effect in mouse and human prion disease.
- Type de publi. : Article dans une revue
- Date de publi. : 15/08/2010
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Auteurs :
Corinne LoeuilletPierre-Yves BoëlleCatherine Lemaire-VieilleMarie BaldazzaPhilippe NaquetPierre ChambonM.F. Cesbron-DelauwAlain-Jacques ValleronJean GagnonJean-Yves Cesbron
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Organismes :
Laboratoire Adaptation et pathogénie des micro-organismes [Grenoble]
Epidémiologie des maladies infectieuses et modélisation
Laboratoire Adaptation et pathogénie des micro-organismes [Grenoble]
Laboratoire Adaptation et pathogénie des micro-organismes [Grenoble]
Centre d'Immunologie de Marseille - Luminy
Institut de Génétique et de Biologie Moléculaire et Cellulaire
Laboratoire Adaptation et pathogénie des micro-organismes [Grenoble]
Epidémiologie des maladies infectieuses et modélisation
Laboratoire Adaptation et pathogénie des micro-organismes [Grenoble]
Laboratoire Adaptation et pathogénie des micro-organismes [Grenoble]
- Publié dans Journal of Infectious Diseases le 27/10/2020
Résumé : Sex effect on the incubation period of variant Creutzfeldt-Jakob disease (vCJD) disease in human and ME-7 murine models was investigated. In the 167 vCJD cases reported in the United Kingdom as of January 2009, age at onset was significantly lower in female patients (by 2 years) than in male patients after stratification on birth cohort. In C57/Bl6N mice infected with ME-7 scrapie strain, incubation was shorter in female than in male mice. The incubation period increased in castrated male mice after intraperitoneal infection but not after intracerebral inoculation. In the absence of androgen receptors, the incubation period for prion disease increased after intraperitoneal inoculation. In ovariectomized or estrogen receptor alpha-defective female mice, no effect was observed on the incubation period of mouse prion disease. These results show that androgens influence the prion diseases incubation period after inoculation at a peripheral site.
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Phase relations and equation of state of a natural MORB: Implications for the density profile of subducted oceanic crust in the Earth's lower mantle
- Type de publi. : Article dans une revue
- Date de publi. : 07/08/2010
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Auteurs :
Angèle RicolleauJean-Philippe PerrillatGuillaume FiquetIsabelle DanielJan MatasAhmed AddadN. MenguyHervé CardonMohamed MezouarNicolas Guignot
Fiche détaillée
Phase relations and equation of state of a natural MORB: Implications for the density profile of subducted oceanic crust in the Earth's lower mantle
- Type de publi. : Article dans une revue
- Date de publi. : 07/08/2010
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Auteurs :
Angèle RicolleauJean-Philippe PerrillatGuillaume FiquetIsabelle DanielJan MatasAhmed AddadN. MenguyHervé CardonMohamed MezouarNicolas Guignot
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Organismes :
Institut de minéralogie et de physique des milieux condensés
Laboratoire de Sciences de la Terre
Institut de minéralogie et de physique des milieux condensés
Laboratoire de Sciences de la Terre
Laboratoire de Sciences de la Terre
Laboratoire de structures et propriétés de l'état solide - UMR 8008
Institut de minéralogie et de physique des milieux condensés
Laboratoire de Sciences de la Terre
European Synchrotron Radiation Facility
European Synchrotron Radiation Facility
- Publié dans Journal of Geophysical Research : Solid Earth le 27/10/2020
Résumé : The phase relations and density of a natural mid‐ocean ridge basalt (MORB) were investigated from 28 to 89 GPa and 1600 to 2700 K by in situ X‐ray diffraction measurements and chemical analysis of the quenched samples using transmission electron microscopy (TEM). We observed an assemblage of five phases up to 50 GPa, namely an aluminum‐bearing magnesium perovskite phase, a calcium perovskite phase, a stishovite phase, the new aluminum‐rich (NAL) phase, and a calcium ferrite‐type phase. The NAL phase was no longer observed above 50 GPa. The phase proportions were obtained by Rietveld refinement of the in situ X‐ray diffraction patterns. After the disappearance of the NAL phase beyond 50 GPa, the proportion of each phase remains constant up to 89 GPa. The density of MORB was calculated using the measured volumes, phase proportions, and chemical compositions of the coexisting phases. The thermoelastic parameters of the MORB sample were estimated from the fit of the measured densities at various pressure and temperature conditions. Resulting MORB density profiles were calculated for different subducting slab temperature profiles. MORB densities are 0.5% to 2% greater than those of the surrounding mantle over the entire lower mantle range, suggesting MORB likely subducts to the core-mantle boundary
Fichiers liés :
2009JB006709.pdf
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Correlated responses in sow feed intake, body composition and reproduction after divergent selection for residual feed intake in the growing pig
- Type de publi. : Communication dans un congrès
- Date de publi. : 01/08/2010
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Auteurs :
Hélène GilbertYvon BillonHervé LagantJulia Adriana CalderonPhilippe GuillouetJean Pierre BidanelJean NobletPierre SellierSusanne Hermesch
Fiche détaillée
Correlated responses in sow feed intake, body composition and reproduction after divergent selection for residual feed intake in the growing pig
- Type de publi. : Communication dans un congrès
- Date de publi. : 01/08/2010
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Auteurs :
Hélène GilbertYvon BillonHervé LagantJulia Adriana CalderonPhilippe GuillouetJean Pierre BidanelJean NobletPierre SellierSusanne Hermesch
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Organismes :
Génétique Animale et Biologie Intégrative
Génétique Expérimentale en Productions Animales
Génétique Animale et Biologie Intégrative
Génétique Animale et Biologie Intégrative
Insémination Caprine et Porcine
Génétique Animale et Biologie Intégrative
Systèmes d'élevage, nutrition animale et humaine
Génétique Animale et Biologie Intégrative
Animal Genetics and Breeding Unit
Résumé : absent
Fichiers liés :
33961_20101026063444703_1.pdf
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Observational study of adherence to European clinical practice guidelines for the management of acute coronary syndrome in revascularized versus non-revascularized patients – the CONNECT Study
- Type de publi. : Article dans une revue
- Date de publi. : 01/08/2010
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Auteurs :
Pierre SabouretPhilippe AssemanJean DallongevilleJean-Jacques DujardinFrançois PhilippeMarie-Annick HerrmannGilles Montalescot
Fiche détaillée
Observational study of adherence to European clinical practice guidelines for the management of acute coronary syndrome in revascularized versus non-revascularized patients – the CONNECT Study
- Type de publi. : Article dans une revue
- Date de publi. : 01/08/2010
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Auteurs :
Pierre SabouretPhilippe AssemanJean DallongevilleJean-Jacques DujardinFrançois PhilippeMarie-Annick HerrmannGilles Montalescot
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Organismes :
Institut de cardiologie [CHU Pitié-Salpêtrière]
Centre Hospitalier Régional Universitaire [CHU Lille]
Institut Pasteur de Lille
Centre Hospitalier de Douai [Douai, Nord]
Institut Mutualiste de Montsouris
Institut de cardiologie [CHU Pitié-Salpêtrière]
- Publié dans Archives of cardiovascular diseases le 30/10/2020
Résumé : Background The CONNECT study compared clinician adherence to guideline-recommended secondary prevention therapies prescribed at discharge for patients hospitalized for acute coronary syndrome (ACS) in those managed initially with percutaneous coronary intervention (PCI; revascularized) and those who did not undergo revascularization. Methods Patients aged greater than or equal to 18 years, hospitalized for a documented ST-segment elevation or non-ST-segment elevation ACS, were enrolled consecutively over 1 month at 238 sites in France. Results Compared with revascularized patients (n = 870), non-revascularized patients (n = 706) were significantly older, and a greater proportion were women, had high-blood pressure, type-2 diabetes or a history of atherothrombotic or cardiac disease, but a smaller proportion had a history of coronary angioplasty. On discharge, non-revascularized patients were prescribed beta-blockers, aspirin, statins, angiotensin-converting enzyme inhibitors or adenosine diphosphate receptor antagonists less frequently than revascularized patients. An adherence score greater than or equal to 80% (at least four of the five recommended agents prescribed at discharge) was found in 96.7% of revascularized patients and 74.4% of non-revascularized patients (P < 0.001). Conclusions Despite a similar or even higher level of cardiovascular risk, non-revascularized ACS patients were prescribed guideline-recommended secondary prevention therapy less frequently than revascularized patients. Résumé
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Evaluation of the (R)VAD+C regimen for the treatment of newly diagnosed mantle cell lymphoma. Combined results of two prospective phase II trials from the French GOELAMS group.
- Type de publi. : Article dans une revue
- Date de publi. : 01/08/2010
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Auteurs :
Rémy GressinSylvie Caulet-MaugendreEric DeconinckOlivier TournilhacEmmanuel GyanMarie Pierre MolesAbderrazak El YamaniJerome CornillonJean François RossiSteven Le GouillGérard LepeuGhandi DamajPhilippe Solal CelignyHervé MaisonneuveBernadette CorrontJean Pierre VilquePhilippe CasassusThierry Lamy-De-La-ChapelleMarc ColonnaPhilippe Colombat
Fiche détaillée
Evaluation of the (R)VAD+C regimen for the treatment of newly diagnosed mantle cell lymphoma. Combined results of two prospective phase II trials from the French GOELAMS group.
- Type de publi. : Article dans une revue
- Date de publi. : 01/08/2010
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Auteurs :
Rémy GressinSylvie Caulet-MaugendreEric DeconinckOlivier TournilhacEmmanuel GyanMarie Pierre MolesAbderrazak El YamaniJerome CornillonJean François RossiSteven Le GouillGérard LepeuGhandi DamajPhilippe Solal CelignyHervé MaisonneuveBernadette CorrontJean Pierre VilquePhilippe CasassusThierry Lamy-De-La-ChapelleMarc ColonnaPhilippe Colombat
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Organismes :
Institut d'oncologie/développement Albert Bonniot de Grenoble
Département de cancérologie et d'hématologie
Service d'hématologie clinique
Service d'hématologie
Interactions hôte-greffon-tumeur, ingénierie cellulaire et génique - UFC (UMR INSERM 1098)
Centres d'addictologies - Région Centre
Service d'hématologie [Tours]
Centre Hospitalier Universitaire d'Angers
Centre hospitalier du Mans
Institut de Cancérologie de la Loire Lucien Neuwirth
Service d'hématologie et oncologie clinique
Service d'hématologie clinique
Centre Hospitalier Henri Duffaut (Avignon)
CHU Amiens-Picardie
Clinique Victor Hugo [Le Mans]
Service d'hématologie
Centre hospitalier d'Annecy
Centre Régional de Lutte contre le Cancer François Baclesse [Caen]
Service d'hématologie clinique [Avicenne]
Service d'hématologie clinique
Registre des cancers de l’Isère [CHU de Grenoble]
Service d'hématologie [Tours]
- Publié dans Haematologica le 30/10/2020
Résumé : Background There is currently no international consensus for first-line treatment (prior to autologous stem cell transplantation) in mantle cell lymphoma patients. Here, we investigated the efficacy and tolerance of VAD associated with chlorambucil (VAD+C) and rituximab or not before autologous stem cell transplantation. DESIGN AND METHODS: Between 1996 and 2005, 113 previously untreated mantle cell lymphoma patients were enrolled in two consecutive prospective phase II studies. Responses and response factors to the (R)VAD+C regimen were evaluated. The survival prognostic value of the MIPI score and Ki67 were also analyzed. RESULTS: The induction phase of 4 courses of (R)VAD+C showed very low hematologic and extra-hematologic toxicity (grade 3-4 thrombopenia and neutropenia, 9% and 2.7%, respectively and grade 3-4 extra-hematologic toxicities, 1.6%). Overall and complete response rates were 73% and 46%, respectively, and rose to 83% and 51% for the 70% of patients with less than two independent response factors (LDH, B symptoms and lymphocytosis). At the end of treatment, 65% of patients were in complete remission. Progression free and overall survival were significantly better in the transplanted population. The MIPI score was confirmed as a predictor of survival. Ki67, serum LDH, Performance Status (PS) and B symptoms were identified as independent prognostic factors of survival. A prognostic scoring system could stratify patients into three risk groups with markedly different median overall survival of 112, 44 and 11 months, respectively. Conclusions The (R)VAD+C is an effective regimen with very low toxicity. In addition to the MIPI score, Ki67 expression provides additional independent prognostic information for the prediction of overall survival (ClinicalTrials.gov Identifier: NCT00285389).
Fichiers liés :
1350.pdf
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Micropointes polymères optiques par photopolymérisation spatialement contrôlée : mécanisme, caractérisations et applications
- Type de publi. : Communication dans un congrès
- Date de publi. : 01/08/2010
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Auteurs :
Safi JradiOlivier SopperaXinhua ZengPhilippe Renaud-GoudJérôme PlainColette TurckDaniel-Joseph LougnotCarole EcoffetIhab DikaJean-Pierre MalvalAurélien BruyantPierre BaudinMikael RenaultYassine HadjarSylvain BlaizeRenaud BachelotPascal Royer
Fiche détaillée
Micropointes polymères optiques par photopolymérisation spatialement contrôlée : mécanisme, caractérisations et applications
- Type de publi. : Communication dans un congrès
- Date de publi. : 01/08/2010
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Auteurs :
Safi JradiOlivier SopperaXinhua ZengPhilippe Renaud-GoudJérôme PlainColette TurckDaniel-Joseph LougnotCarole EcoffetIhab DikaJean-Pierre MalvalAurélien BruyantPierre BaudinMikael RenaultYassine HadjarSylvain BlaizeRenaud BachelotPascal Royer
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Organismes :
Laboratoire de Nanotechnologie et d'Instrumentation Optique
Département de Photochimie Générale
Laboratoire de Nanotechnologie et d'Instrumentation Optique
Laboratoire de Nanotechnologie et d'Instrumentation Optique
Laboratoire de Nanotechnologie et d'Instrumentation Optique
Institut de Science des Matériaux de Mulhouse
Département de Photochimie Générale
Département de Photochimie Générale
Institut de Science des Matériaux de Mulhouse
Département de Photochimie Générale
Laboratoire de Nanotechnologie et d'Instrumentation Optique
Nanyang Technological University [Singapour]
Laboratoire de Nanotechnologie et d'Instrumentation Optique
Laboratoire Kastler Brossel
Laboratoire de Nanotechnologie et d'Instrumentation Optique
Laboratoire de Nanotechnologie et d'Instrumentation Optique
Laboratoire de Nanotechnologie et d'Instrumentation Optique
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Combined diffusion imaging and MR spectroscopy in the diagnosis of human prion diseases.
- Type de publi. : Article dans une revue
- Date de publi. : 01/08/2010
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Auteurs :
Damien GalanaudStéphane HaïkMarius George LinguraruJean‐philippe RanjevaBaptiste FaucheuxElsa KaphanNicholas AyacheJacques ChirasPatrick J CozzoneDidier DormontJean-Philippe Brandel
Fiche détaillée
Combined diffusion imaging and MR spectroscopy in the diagnosis of human prion diseases.
- Type de publi. : Article dans une revue
- Date de publi. : 01/08/2010
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Auteurs :
Damien GalanaudStéphane HaïkMarius George LinguraruJean‐philippe RanjevaBaptiste FaucheuxElsa KaphanNicholas AyacheJacques ChirasPatrick J CozzoneDidier DormontJean-Philippe Brandel
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Organismes :
Centre de résonance magnétique biologique et médicale
CHU Pitié-Salpêtrière [AP-HP]
Laboratoire de Neuropathologie Raymond Escourolle [CHU Pitié-Salpétriêre]
Analysis and Simulation of Biomedical Images
Centre de résonance magnétique biologique et médicale
CHU Pitié-Salpêtrière [AP-HP]
CHU Pitié-Salpêtrière [AP-HP]
Analysis and Simulation of Biomedical Images
CHU Pitié-Salpêtrière [AP-HP]
Centre de résonance magnétique biologique et médicale
CHU Pitié-Salpêtrière [AP-HP]
Neurosciences cognitives et imagerie cérébrale
Laboratoire d'Imagerie Fonctionnelle
Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière
Neuroépidémiologie
- Publié dans American Journal of Neuroradiology le 26/10/2020
Résumé : BACKGROUND AND PURPOSE: The physiopathologic bases underlying the signal intensity changes and reduced diffusibility observed in prion diseases (TSEs) are still poorly understood. We evaluated the interest of MRS combined with DWI both as a diagnostic tool and a way to understand the mechanism underlying signal intensity and ADC changes in this setting. MATERIALS AND METHODS: We designed a prospective study of multimodal MR imaging in patients with suspected TSEs. Forty-five patients with a suspicion of TSE and 11 age-matched healthy volunteers were included. The MR imaging protocol included T1, FLAIR, and DWI sequences. MRS was performed on the cerebellum, pulvinar, right lenticular nucleus, and frontal cortex. MR images were assessed visually, and ADC values were calculated. RESULTS: Among the 45 suspected cases, 31 fulfilled the criteria for probable or definite TSEs (19 sCJDs, 3 iCJDs, 2 vCJDs, and 7 genetic TSEs); and 14 were classified as AltDs. High signals in the cortex and/or basal ganglia were observed in 26/31 patients with TSEs on FLAIR and 29/31 patients on DWI. In the basal ganglia, high DWI signals corresponded to a decreased ADC. Metabolic alterations, increased mIns, and decreased NAA were observed in all patients with TSEs. ADC values and metabolic changes were not correlated; this finding suggests that neuronal stress (vacuolization), neuronal loss, and astrogliosis do not alone explain the decrease of ADC. CONCLUSIONS: MRS combined with other MR imaging is of interest in the diagnosis of TSE and provides useful information for understanding physiopathologic processes underlying prion diseases.
Fichiers liés :
Galanaud-et-al-AJNR2010-1.pdf
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Delineation of 15q13.3 microdeletions.
- Type de publi. : Article dans une revue
- Date de publi. : 01/08/2010
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Auteurs :
Alice Masurel-PauletJoris AndrieuxPatrick CallierJean-Marie CuissetCédric Le CaignecMuriel Holder-EspinasseChristel Thauvin-RobinetBérénice DorayElizabeth FloriMarie-Pierre Alex-CordierMylène BeriOdile BouteBruno DelobelAnne DieuxLouis ValléeSylvie JaillardSylvie OdentBertrand IsidorClaire BeneteauJaqueline VigneronFrédéric BilanBrigitte Gilbert-DussardierChristele DubourgAudrey LabalmeC. BidonAgnès GautierPhilippe PernesJean-Michel PinoitFrédéric HuetFrancine MugneretBernard AralPhilippe JonveauxDamien SanlavilleLaurence Faivre
Fiche détaillée
Delineation of 15q13.3 microdeletions.
- Type de publi. : Article dans une revue
- Date de publi. : 01/08/2010
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Auteurs :
Alice Masurel-PauletJoris AndrieuxPatrick CallierJean-Marie CuissetCédric Le CaignecMuriel Holder-EspinasseChristel Thauvin-RobinetBérénice DorayElizabeth FloriMarie-Pierre Alex-CordierMylène BeriOdile BouteBruno DelobelAnne DieuxLouis ValléeSylvie JaillardSylvie OdentBertrand IsidorClaire BeneteauJaqueline VigneronFrédéric BilanBrigitte Gilbert-DussardierChristele DubourgAudrey LabalmeC. BidonAgnès GautierPhilippe PernesJean-Michel PinoitFrédéric HuetFrancine MugneretBernard AralPhilippe JonveauxDamien SanlavilleLaurence Faivre
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Organismes :
Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon)
Department of Experimental Cardiology
Laboratoire de Génétique Clinique
Laboratoire de cytogénétique (CHU de Dijon)
Service de Neuropédiatrie
CHU Trousseau [APHP]
Service de Génétique clinique
Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon)
Department of Experimental Cardiology
Service de génétique médicale
Laboratoire de Cytogénétique
Service de Génétique
Service de Génétique [CHRU Nancy]
Service de Génétique clinique
Centre de Génétique Chromosomique [Hôpital Saint Vincent de Paul]
Service de Génétique clinique
Service de Neuropédiatrie
Service de Cytogénétique et de Biologie Cellulaire
Service de génétique clinique [Rennes]
CHU Trousseau [APHP]
Service de Néonatologie-Génétique
Service de Néonatologie-Génétique
Service de Génétique [CHU Poitiers]
Service de Génétique [CHU Poitiers]
Laboratoire de génétique moléculaire et génomique médicale [CHU Rennes]
Service de cytogénétique constitutionnelle
Plateau technique de Biologie [CHU de Dijon]
Service de Neuropédiatrie
Centre de soins Saint Exupery
Centre Ressources Autisme de Bourgogne (CHU de Dijon)
Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon)
Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon)
Service de Néonatologie-Génétique
Service de Cytogénétique
Service de cytogénétique constitutionnelle
Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon)
Department of Experimental Cardiology
- Publié dans Clinical Genetics le 30/10/2020
Résumé : The increasing use of array-comparative genomic hybridization (array-CGH) to identify copy number variations (CNVs) in patients with developmental delay (DD), mental retardation and/or dysmorphic features has allowed the recent recognition of numerous genomic imbalances, including the 15q13.3 microdeletion. Patients with this microdeletion generally present with relatively consistent breakpoints at BP4 and BP5, which include the CHRNA7 gene. About 100 index cases have been reported since the first publication in 2008. This large number of patients ascertained through highly variable samples has been necessary to describe the full phenotypic spectrum of this microdeletion, ranging from mental retardation with dysmorphic features, epilepsy, neuropsychiatric disturbances with or without cognitive impairment to complete absence of anomalies. Here, we describe a collaborative study reporting a new cohort of 12 index patients and 13 relatives carrying a heterozygous BP4-BP5 microdeletion out of a series of 4625 patients screened by array-CGH for DD. We confirm the clinical expressivity of the disease as well as the incomplete penetrance in seven families. We showed through a review of the literature that males are more likely to be symptomatic. Sequence analysis of CHRNA7 yielded no data to support the unmasking of recessive variants as a cause of phenotypic variability. We also report the first patient carrying a 15q13.3 homozygous microdeletion inherited from both parents. He had severe epileptic encephalopathy with retinopathy, autistic features and choreoathetosis. Besides the classical approximately 1.5 Mb BP4-BP5 microdeletion, we also describe three index patients and two relatives with a smaller 500 kb microdeletion, including the CHRNA7 gene.
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Autonomic nervous system activity is independently associated with the risk of shift in the non-dipper blood pressure pattern
- Type de publi. : Article dans une revue
- Date de publi. : 29/07/2010
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Auteurs :
Virginie DauphinotPhilippe GosseMichel KossovskyAnne-Marie SchottIsabelle RouchVincent PichotJean-Michel GaspozFrédéric RocheJean-Claude Barthelemy
Fiche détaillée
Autonomic nervous system activity is independently associated with the risk of shift in the non-dipper blood pressure pattern
- Type de publi. : Article dans une revue
- Date de publi. : 29/07/2010
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Auteurs :
Virginie DauphinotPhilippe GosseMichel KossovskyAnne-Marie SchottIsabelle RouchVincent PichotJean-Michel GaspozFrédéric RocheJean-Claude Barthelemy
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Organismes :
Centre Mémoire Ressources et Recherche [Lyon]
Centre Hospitalier Universitaire de Bordeaux
Département de médecine interne, de réhabilitation et de gériatrie
Pôle Information Médicale Evaluation Recherche
Santé Individu Société
Centre Mémoire Ressources et Recherche [Lyon]
Institut franco-allemand de recherches de Saint-Louis = French-German Research Institute of Saint-Louis = Deutsch-Französisches Forschungsinstitut Saint-Louis
Nanomatériaux pour les Systèmes Sous Sollicitations Extrêmes
Pathologie métabolique et hormonale du développement
Service de Physiologie Clinique et de l'Exercice [CHU de Saint-Etienne]
Unité de Recherche PPEH, Service de Physiologie Clinique et de l'Exercice
- Publié dans Hypertension Research le 30/10/2020
Source