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Wyszukujesz frazę ""Marguet F"" wg kryterium: Autor


Wyświetlanie 1-10 z 10
Tytuł:
Oligodendrocyte lineage is severely affected in human alcohol-exposed foetuses.
Autorzy:
Marguet F; Department of Pathology, Normandy Centre for Genomic and Personalized Medicine, Laboratoire d'Anatomie Pathologique, Pavillon Jacques Delarue, CHU, Normandie Univ, UNIROUEN, INSERM U1245 and Rouen University Hospital, 1 Rue de Germont, 76031, Rouen Cedex, France. florent.marguet@hotmail.fr.
Brosolo M; UNIROUEN, INSERM U1245 F76000, Normandy Centre for Genomic and Personalized Medicine, Normandie Univ, Rouen, France.
Friocourt G; Inserm UMR1078, Université de Bretagne Occidentale, Faculté de Médecine et Des Sciences de la Santé; Etablissement Français du Sang (EFS) Bretagne; Laboratoire de Génétique Moléculaire, CHRU Brest, Hôpital Morvan, Brest, France.
Sauvestre F; Department of Pathology, Bordeaux University Hospital, Bordeaux, France.
Marcorelles P; Pathology Laboratory, Pole Pathologie-Biologie, Centre Hospitalier Universitaire Brest, Brest, France.; Laboratory of Neurosciences of Brest, Faculté de Médecine et des Sciences de la Santé, Brest University, Brest, France.
Lesueur C; UNIROUEN, INSERM U1245 F76000, Normandy Centre for Genomic and Personalized Medicine, Normandie Univ, Rouen, France.
Marret S; Department of Neonatal Paediatrics and Intensive Care, Normandy Centre for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, INSERM U1245 and Rouen University Hospital, 76000, Rouen, France.
Gonzalez BJ; UNIROUEN, INSERM U1245 F76000, Normandy Centre for Genomic and Personalized Medicine, Normandie Univ, Rouen, France.
Laquerrière A; Department of Pathology, Normandy Centre for Genomic and Personalized Medicine, Laboratoire d'Anatomie Pathologique, Pavillon Jacques Delarue, CHU, Normandie Univ, UNIROUEN, INSERM U1245 and Rouen University Hospital, 1 Rue de Germont, 76031, Rouen Cedex, France.
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Źródło:
Acta neuropathologica communications [Acta Neuropathol Commun] 2022 May 14; Vol. 10 (1), pp. 74. Date of Electronic Publication: 2022 May 14.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Prenatal Exposure Delayed Effects*/metabolism
Cell Differentiation ; Cell Lineage ; Ethanol/toxicity ; Female ; Fetus/metabolism ; Humans ; Myelin Sheath/metabolism ; Oligodendrocyte Transcription Factor 2/metabolism ; Oligodendroglia/metabolism ; Pregnancy
Czasopismo naukowe
Tytuł:
A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics.
Autorzy:
Nicolas G; Inserm U1245 and CHU Rouen, Department of Genetics and CNR-MAJ, Normandie University, UNIROUEN, F-76000, Rouen, France.
Sévigny M; Department of Psychiatry and Neuroscience, Laval University, Quebec City, QC, Canada, 2325, rue de l'Université, G1V 0A6.; CERVO Brain Research Centre, Laval University, Quebec City, QC, Canada, 2601, chemin de la Canardière, G1J 2G3.
Lecoquierre F; Inserm U1245 and CHU Rouen, Department of Genetics and CNR-MAJ, Normandie University, UNIROUEN, F-76000, Rouen, France.
Marguet F; Inserm U1245 and CHU Rouen, Department of Pathology, Normandie University, UNIROUEN, F-76000, Rouen, France.
Deschênes A; Department of Psychiatry and Neuroscience, Laval University, Quebec City, QC, Canada, 2325, rue de l'Université, G1V 0A6.; CERVO Brain Research Centre, Laval University, Quebec City, QC, Canada, 2601, chemin de la Canardière, G1J 2G3.; Department of Biochemistry, Microbiology and Bioinformatics, Laval University, Quebec City, QC, Canada.
Del Pelaez MC; Department of Psychiatry and Neuroscience, Laval University, Quebec City, QC, Canada, 2325, rue de l'Université, G1V 0A6.; CERVO Brain Research Centre, Laval University, Quebec City, QC, Canada, 2601, chemin de la Canardière, G1J 2G3.
Feuillette S; Inserm U1245 and CHU Rouen, Department of Genetics and CNR-MAJ, Normandie University, UNIROUEN, F-76000, Rouen, France.
Audebrand A; Department of Psychiatry and Neuroscience, Laval University, Quebec City, QC, Canada, 2325, rue de l'Université, G1V 0A6.; CERVO Brain Research Centre, Laval University, Quebec City, QC, Canada, 2601, chemin de la Canardière, G1J 2G3.
Lecourtois M; Inserm U1245 and CHU Rouen, Department of Genetics and CNR-MAJ, Normandie University, UNIROUEN, F-76000, Rouen, France.
Rousseau S; Inserm U1245 and CHU Rouen, Department of Genetics and CNR-MAJ, Normandie University, UNIROUEN, F-76000, Rouen, France.
Richard AC; Inserm U1245 and CHU Rouen, Department of Genetics and CNR-MAJ, Normandie University, UNIROUEN, F-76000, Rouen, France.
Cassinari K; Inserm U1245 and CHU Rouen, Department of Genetics and CNR-MAJ, Normandie University, UNIROUEN, F-76000, Rouen, France.
Deramecourt V; Lille Neuroscience and Cognition (Inserm UMRS1172) Alzheimer and Tauopathies, Laboratory of Excellence Distalz (Development of Innovative Strategies for a Transdisciplinary Approach to ALZheimer's Disease), University of Lille, CHU Lille, Lille, France.; Department of Neuropathology, University of Lille, CHU Lille, Lille, France.
Duyckaerts C; INSERM, CNRS U1127, Institut du Cerveau, Sorbonne Université, ICM, Paris, France.; Laboratoire de Neuropathologie R. Escourolle, AP-HP, Hôpital de la Pitié-Salpêtrière, Paris, France.
Boland A; CEA, Centre National de Recherche en Génomique Humaine, Université Paris-Saclay, 91057, Evry, France.
Deleuze JF; CEA, Centre National de Recherche en Génomique Humaine, Université Paris-Saclay, 91057, Evry, France.
Meyer V; CEA, Centre National de Recherche en Génomique Humaine, Université Paris-Saclay, 91057, Evry, France.
Clarimon Echavarria J; Memory Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.; Centro de Investigación Biomédica en Red Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.
Gelpi E; Neurological Tissue Bank of the Biobank-Hospital Clinic-IDIBAPS, Barcelona, Spain.; Division of Neuropathology, Department of Neurology, Medical University of Vienna, Vienna, Austria.
Akiyama H; Dementia Research Project, Department of Brain and Neurosciences, Tokyo Metropolitan Institute of Medical Science, Setagaya City, Japan.
Hasegawa M; Dementia Research Project, Department of Brain and Neurosciences, Tokyo Metropolitan Institute of Medical Science, Setagaya City, Japan.
Kawakami I; Dementia Research Project, Department of Brain and Neurosciences, Tokyo Metropolitan Institute of Medical Science, Setagaya City, Japan.
Wong TH; Department of Neurology and Alzheimer Center, Erasmus Medical Center, Rotterdam, The Netherlands.
Van Rooij JGJ; Department of Neurology and Alzheimer Center, Erasmus Medical Center, Rotterdam, The Netherlands.
Van Swieten JC; Department of Neurology and Alzheimer Center, Erasmus Medical Center, Rotterdam, The Netherlands.; Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands.
Campion D; Inserm U1245 and CHU Rouen, Department of Genetics and CNR-MAJ, Normandie University, UNIROUEN, F-76000, Rouen, France.
Dutchak PA; Department of Psychiatry and Neuroscience, Laval University, Quebec City, QC, Canada, 2325, rue de l'Université, G1V 0A6.; CERVO Brain Research Centre, Laval University, Quebec City, QC, Canada, 2601, chemin de la Canardière, G1J 2G3.
Wallon D; UNIROUEN, Inserm U1245 and CHU Rouen, Department of Neurology and CNR-MAJ, Normandie University, F-76000, Rouen, France.
Lavoie-Cardinal F; Department of Psychiatry and Neuroscience, Laval University, Quebec City, QC, Canada, 2325, rue de l'Université, G1V 0A6.; CERVO Brain Research Centre, Laval University, Quebec City, QC, Canada, 2601, chemin de la Canardière, G1J 2G3.; Institut Intelligence et Données, Laval University, Quebec City, QC, Canada.
Laquerrière A; Inserm U1245 and CHU Rouen, Department of Pathology, Normandie University, UNIROUEN, F-76000, Rouen, France.
Rovelet-Lecrux A; Inserm U1245 and CHU Rouen, Department of Genetics and CNR-MAJ, Normandie University, UNIROUEN, F-76000, Rouen, France. .
Sephton CF; Department of Psychiatry and Neuroscience, Laval University, Quebec City, QC, Canada, 2325, rue de l'Université, G1V 0A6. .; CERVO Brain Research Centre, Laval University, Quebec City, QC, Canada, 2601, chemin de la Canardière, G1J 2G3. .
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Źródło:
Acta neuropathologica communications [Acta Neuropathol Commun] 2022 Feb 12; Vol. 10 (1), pp. 20. Date of Electronic Publication: 2022 Feb 12.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Brain/*pathology
Frontotemporal Dementia/*genetics
Nerve Tissue Proteins/*genetics
Neurons/*pathology
RNA-Binding Protein FUS/*metabolism
Codon, Nonsense ; Female ; Frontotemporal Dementia/pathology ; Haploinsufficiency ; Humans ; Middle Aged
Czasopismo naukowe
Tytuł:
Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants.
Autorzy:
Marguet F; UNIROUEN, INSERM U1245, Rouen University Hospital, Department of Pathology, Normandie Univ, 76000, Rouen, France.
Vezain M; UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, 76000, Rouen, France.
Marcorelles P; UBO EA 4685 LIEN and Brest University Hospital, Pathology Department, Brest Univ, 29609, Brest, France.
Audebert-Bellanger S; Department of Genetics, Brest University Hospital, 29200, Brest, France.
Cassinari K; UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, 76000, Rouen, France.
Drouot N; UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, 76000, Rouen, France.
Chambon P; UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, 76000, Rouen, France.
Gonzalez BJ; UNIROUEN, INSERM U1245, Normandy Centre for Genomic and Personalized Medicine, Normandie Univ, 76000, Rouen, France.
Horowitz A; UNIROUEN, INSERM U1245, Normandy Centre for Genomic and Personalized Medicine, Normandie Univ, 76000, Rouen, France.
Laquerriere A; UNIROUEN, INSERM U1245, Rouen University Hospital, Department of Pathology, Normandie Univ, 76000, Rouen, France. .; Pathology Laboratory, Pavillon Jacques Delarue, CHR, 1 rue de Germont, 76031, Rouen Cedex, France. .
Saugier-Veber P; UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, 76000, Rouen, France.
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Źródło:
Acta neuropathologica communications [Acta Neuropathol Commun] 2021 Jun 06; Vol. 9 (1), pp. 104. Date of Electronic Publication: 2021 Jun 06.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Fetal Diseases/*genetics
Hydrocephalus/*congenital
Hydrocephalus/*genetics
Hydrocephalus/*pathology
Intracellular Signaling Peptides and Proteins/*genetics
Microfilament Proteins/*genetics
Adult ; Brain/pathology ; Female ; Fetus ; Humans ; Mutation ; Pedigree ; Pregnancy
Czasopismo naukowe
Tytuł:
Cell-free DNA and circulating TERT promoter mutation for disease monitoring in newly-diagnosed glioblastoma.
Autorzy:
Fontanilles M; Inserm U1245, Normandie Univ, UNIROUEN, IRON group, Normandy Centre for Genomic and Personalized Medicine, Rouen, France. .; Department of Medical Oncology, Cancer Centre Henri Becquerel, Rue d'Amiens, 76000, Rouen, France. .; Département d'oncologie médicale, Centre de Lutte Contre le Cancer Henri Becquerel, Rue d'Amiens, 76038, Rouen, France. .
Marguet F; Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.; Department of Pathology, Rouen University Hospital, 76031, Rouen, France.
Beaussire L; Inserm U1245, Normandie Univ, UNIROUEN, IRON group, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
Magne N; Department of Radiology, Rouen University Hospital, 76031, Rouen, France.
Pépin LF; Department of Statistics and Clinical Research Unit, Henri Becquerel Cancer Center, Rouen, France.
Alexandru C; Department of Medical Oncology, Cancer Centre Henri Becquerel, Rue d'Amiens, 76000, Rouen, France.
Tennevet I; Department of Medical Oncology, Cancer Centre Henri Becquerel, Rue d'Amiens, 76000, Rouen, France.
Hanzen C; Department of Radiation Oncology and Medical Physics, Cancer Centre Henri Becquerel, Rue d'Amiens, 76000, Rouen, France.
Langlois O; Department of Neurosurgery, Rouen University Hospital, 76031, Rouen, France.
Jardin F; Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
Laquerrière A; Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.; Department of Pathology, Rouen University Hospital, 76031, Rouen, France.
Sarafan-Vasseur N; Inserm U1245, Normandie Univ, UNIROUEN, IRON group, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
Di Fiore F; Inserm U1245, Normandie Univ, UNIROUEN, IRON group, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.; Department of Medical Oncology, Cancer Centre Henri Becquerel, Rue d'Amiens, 76000, Rouen, France.; Department of Gastroenterology, Rouen University Hospital, 76031, Rouen, France.
Clatot F; Inserm U1245, Normandie Univ, UNIROUEN, IRON group, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.; Department of Medical Oncology, Cancer Centre Henri Becquerel, Rue d'Amiens, 76000, Rouen, France.
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Źródło:
Acta neuropathologica communications [Acta Neuropathol Commun] 2020 Nov 04; Vol. 8 (1), pp. 179. Date of Electronic Publication: 2020 Nov 04.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Brain Neoplasms/*blood
Circulating Tumor DNA/*blood
Glioblastoma/*blood
Promoter Regions, Genetic/*genetics
Telomerase/*genetics
Aged ; Antineoplastic Agents, Alkylating/therapeutic use ; Brain Neoplasms/therapy ; Cell-Free Nucleic Acids/blood ; Chemoradiotherapy ; Female ; Glioblastoma/therapy ; Gliosarcoma/blood ; Gliosarcoma/therapy ; Humans ; Male ; Middle Aged ; Mutation ; Neurosurgical Procedures ; Temozolomide/therapeutic use
Czasopismo naukowe
Tytuł:
Simultaneous detection of EGFR amplification and EGFRvIII variant using digital PCR-based method in glioblastoma.
Autorzy:
Fontanilles M; Inserm U1245, Normandie Univ, UNIROUEN, IRON group, Normandy Centre for Genomic and Personalized Medicine, Rouen University Hospital, F-76031, Rouen, France. .; Department of Medical Oncology, Cancer Centre Henri Becquerel, Rue d'Amiens, F-76038, Rouen, France. .
Marguet F; Inserm U1245, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, Rouen University Hospital, F-76031, Rouen, France.; Department of Pathology, Rouen University Hospital, F-76031, Rouen, France.
Ruminy P; Inserm U1245, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, Rouen University Hospital, F-76031, Rouen, France.
Basset C; Department of Pathology, Rouen University Hospital, F-76031, Rouen, France.
Noel A; Inserm U1245, Normandie Univ, UNIROUEN, IRON group, Normandy Centre for Genomic and Personalized Medicine, Rouen University Hospital, F-76031, Rouen, France.
Beaussire L; Inserm U1245, Normandie Univ, UNIROUEN, IRON group, Normandy Centre for Genomic and Personalized Medicine, Rouen University Hospital, F-76031, Rouen, France.
Viennot M; Inserm U1245, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, Rouen University Hospital, F-76031, Rouen, France.
Viailly PJ; Department of Pathology, Rouen University Hospital, F-76031, Rouen, France.
Cassinari K; Department of Genetics, Inserm U1245, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, Rouen University Hospital, F-76031, Rouen, France.
Chambon P; Department of Genetics, Inserm U1245, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, Rouen University Hospital, F-76031, Rouen, France.
Richard D; Department of Statistics and Clinical Research Unit, Cancer Centre Henri Becquerel, Rouen, F-76038, France.
Alexandru C; Department of Medical Oncology, Cancer Centre Henri Becquerel, Rue d'Amiens, F-76038, Rouen, France.
Tennevet I; Department of Medical Oncology, Cancer Centre Henri Becquerel, Rue d'Amiens, F-76038, Rouen, France.
Langlois O; Department of Neurosurgery, Rouen University Hospital, F-76031, Rouen, France.
Di Fiore F; Inserm U1245, Normandie Univ, UNIROUEN, IRON group, Normandy Centre for Genomic and Personalized Medicine, Rouen University Hospital, F-76031, Rouen, France.; Department of Medical Oncology, Cancer Centre Henri Becquerel, Rue d'Amiens, F-76038, Rouen, France.; Department of Gastroenterology, Rouen University Hospital, F-76031, Rouen, France.
Laquerrière A; Inserm U1245, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, Rouen University Hospital, F-76031, Rouen, France.; Department of Pathology, Rouen University Hospital, F-76031, Rouen, France.
Clatot F; Inserm U1245, Normandie Univ, UNIROUEN, IRON group, Normandy Centre for Genomic and Personalized Medicine, Rouen University Hospital, F-76031, Rouen, France.; Department of Medical Oncology, Cancer Centre Henri Becquerel, Rue d'Amiens, F-76038, Rouen, France.
Sarafan-Vasseur N; Inserm U1245, Normandie Univ, UNIROUEN, IRON group, Normandy Centre for Genomic and Personalized Medicine, Rouen University Hospital, F-76031, Rouen, France.
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Źródło:
Acta neuropathologica communications [Acta Neuropathol Commun] 2020 Apr 17; Vol. 8 (1), pp. 52. Date of Electronic Publication: 2020 Apr 17.
Typ publikacji:
Clinical Trial; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Brain Neoplasms/*genetics
Glioblastoma/*genetics
Polymerase Chain Reaction/*methods
Adult ; Aged ; Biomarkers/analysis ; Brain Neoplasms/therapy ; Chemoradiotherapy/adverse effects ; ErbB Receptors ; Female ; Gene Amplification ; Glioblastoma/therapy ; Humans ; Male ; Middle Aged ; Temozolomide/adverse effects
Czasopismo naukowe
Tytuł:
Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination.
Autorzy:
Trimouille A; Department of Medical Genetics, Bordeaux University Hospital, Bordeaux, France.; Bordeaux Univ, INSERM U1211, Bordeaux University Hospital, Bordeaux, France.
Marguet F; Normandie Univ, UNIROUEN, INSERM U1245, Rouen University Hospital, Department of Pathology, F76000, Rouen, France.
Sauvestre F; Department of Pathology, Bordeaux University Hospital, Bordeaux, France.
Lasseaux E; Department of Medical Genetics, Bordeaux University Hospital, Bordeaux, France.
Pelluard F; Department of Pathology, Bordeaux University Hospital, Bordeaux, France.
Martin-Négrier ML; Department of Pathology, Bordeaux University Hospital, Bordeaux, France.
Plaisant C; Department of Medical Genetics, Bordeaux University Hospital, Bordeaux, France.
Rooryck C; Department of Medical Genetics, Bordeaux University Hospital, Bordeaux, France.; Bordeaux Univ, INSERM U1211, Bordeaux University Hospital, Bordeaux, France.
Lacombe D; Department of Medical Genetics, Bordeaux University Hospital, Bordeaux, France.; Bordeaux Univ, INSERM U1211, Bordeaux University Hospital, Bordeaux, France.
Arveiler B; Department of Medical Genetics, Bordeaux University Hospital, Bordeaux, France.; Bordeaux Univ, INSERM U1211, Bordeaux University Hospital, Bordeaux, France.
Boespflug-Tanguy O; INSERM UMR1141 Paris Diderot University, APHP Child neurology and Metabolic Department, Reference Centre for Leukodystrophies (LEUKOFRANCE -ERN-RND)- Robert-Debré hospital, Paris, France.
Naudion S; Department of Medical Genetics, Bordeaux University Hospital, Bordeaux, France.
Laquerrière A; Normandie Univ, UNIROUEN, INSERM U1245, Rouen University Hospital, Department of Pathology, F76000, Rouen, France. .; Pathology Laboratory, Pavillon Jacques Delarue,CHR, 1 rue de Germont, 76031, Rouen, Cedex, France. .
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Źródło:
Acta neuropathologica communications [Acta Neuropathol Commun] 2020 Apr 15; Vol. 8 (1), pp. 48. Date of Electronic Publication: 2020 Apr 15.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Eukaryotic Initiation Factor-2B/*genetics
Leukoencephalopathies/*genetics
Leukoencephalopathies/*pathology
Female ; Fetus ; Humans ; Male ; Pregnancy ; Siblings
Czasopismo naukowe
Tytuł:
Mosaic PTEN alteration in the neural crest during embryogenesis results in multiple nervous system hamartomas.
Autorzy:
Goldenberg A; Department of Genetics, Rouen University Hospital and Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, F76000, Rouen, France.
Marguet F; Department of Pathology, Rouen University Hospital, F76000, Rouen, France.
Gilard V; Department of Neurosurgery, Rouen University Hospital, F76000, Rouen, France.
Cardine AM; Department of Paediatric Oncology, Rouen University Hospital, F76000, Rouen, France.
Hassani A; Department of Radiology, Rouen University Hospital, F76000, Rouen, France.
Doz F; Oncology Center SIREDO, Institute Curie and University Paris Descartes, F75000, Paris, France.
Radi S; Team for Child Development, F76130, Mont Saint-Aignan, France.
Vasseur S; Department of Genetics, Rouen University Hospital and Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, F76000, Rouen, France.
Bou J; Department of Genetics, Rouen University Hospital and Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, F76000, Rouen, France.
Branchaud M; Department of Genetics, Rouen University Hospital and Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, F76000, Rouen, France.
Houdayer C; Department of Genetics, Rouen University Hospital and Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, F76000, Rouen, France.
Baert-Desurmont S; Department of Genetics, Rouen University Hospital and Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, F76000, Rouen, France.
Laquerriere A; Department of Pathology, Rouen University Hospital, F76000, Rouen, France.
Frebourg T; Department of Genetics, Rouen University Hospital and Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, F76000, Rouen, France. .
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Źródło:
Acta neuropathologica communications [Acta Neuropathol Commun] 2019 Dec 03; Vol. 7 (1), pp. 191. Date of Electronic Publication: 2019 Dec 03.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Mosaicism*/embryology
Embryonic Development/*genetics
Hamartoma Syndrome, Multiple/*diagnostic imaging
Hamartoma Syndrome, Multiple/*genetics
Neural Crest/*diagnostic imaging
PTEN Phosphohydrolase/*genetics
Child ; Hamartoma Syndrome, Multiple/embryology ; Humans ; Male ; Neural Crest/embryology
Czasopismo naukowe
Tytuł:
Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene.
Autorzy:
Saugier-Veber P; Department of Genetics, Normandie Univ, UNIROUEN, INSERM U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen University Hospital, F76000, Rouen, France.
Marguet F; Department of Pathology, Normandie Univ, UNIROUEN, INSERM U1245, Rouen University Hospital, F76000, Rouen, France.
Lecoquierre F; Department of Genetics, Normandie Univ, UNIROUEN, INSERM U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen University Hospital, F76000, Rouen, France.
Adle-Biassette H; Department of Pathology, Lariboisière Hospital, APHP, F75000, Paris Diderot University, Sorbonne Paris Cité, PROTECT INSERM, F75019, Paris, France.
Guimiot F; Department of Genetics and Cytogenetics, Foetopathology Unit, Robert Debré Hospital, APHP, Paris Diderot University, INSERM U1141, F75019, Paris, France.
Cipriani S; Paris Diderot University, Sorbonne Paris Cité, PROTECT INSERM, F75019, Paris, France.
Patrier S; Department of Pathology, Rouen University Hospital, F76000, Rouen, France.
Brasseur-Daudruy M; Department of Radiology, Rouen University Hospital, F76000, Rouen, France.
Goldenberg A; Department of Genetics, Normandy Centre for Genomic and Personalized Medicine, Rouen University Hospital, F76000, Rouen, France.
Layet V; Department of Genetics and Cytogenetics, Le Havre Hospital, F76600, Le Havre, France.
Capri Y; Department of Genetics, Robert Debré Hospital, APHP, F75019, Paris, France.
Gérard M; Department of Genetics, Normandy Centre for Genomic and Personalized Medicine, Caen University Hospital, F14000, Caen, France.
Frébourg T; Department of Genetics, Normandie Univ, UNIROUEN, INSERM U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen University Hospital, F76000, Rouen, France.
Laquerrière A; Department of Pathology, Normandie Univ, UNIROUEN, INSERM U1245, Rouen University Hospital, F76000, Rouen, France. .; Pathology Laboratory, Pavillon Jacques Delarue, CHR,1 rue de Germont, 76031, Rouen Cedex, France. .
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Źródło:
Acta neuropathologica communications [Acta Neuropathol Commun] 2017 May 01; Vol. 5 (1), pp. 36. Date of Electronic Publication: 2017 May 01.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Loss of Function Mutation*
Carrier Proteins/*genetics
Ependyma/*abnormalities
Fetal Diseases/*genetics
Hydrocephalus/*genetics
Adult ; Ependyma/diagnostic imaging ; Family ; Female ; Fetal Diseases/diagnostic imaging ; Fetal Diseases/etiology ; Fetal Diseases/pathology ; Homozygote ; Humans ; Hydrocephalus/diagnostic imaging ; Hydrocephalus/etiology ; Hydrocephalus/pathology ; Membrane Proteins
Czasopismo naukowe
Tytuł:
HMGA2 immunostaining is a straightforward technique which helps to distinguish pulmonary fat-forming lesions from normal adipose tissue in small biopsies: a retrospective observational study about a series of 13 lung biopsies.
Autorzy:
Piton N; Department of Pathology, Rouen University Hospital, F 76 000 Rouen, France. .
Angot É; Department of Pathology, Rouen University Hospital, F 76 000 Rouen, France.
Marguet F; Department of Pathology, Rouen University Hospital, F 76 000 Rouen, France.
Sabourin JC; Department of Pathology, Rouen University Hospital, F 76 000 Rouen, France.
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Źródło:
Diagnostic pathology [Diagn Pathol] 2017 Feb 23; Vol. 12 (1), pp. 21. Date of Electronic Publication: 2017 Feb 23.
Typ publikacji:
Journal Article; Observational Study
MeSH Terms:
Translocation, Genetic*
Biomarkers, Tumor/*genetics
HMGA2 Protein/*genetics
Hamartoma/*pathology
Lipoma/*pathology
Lung Diseases/*pathology
Adipocytes/metabolism ; Adipocytes/pathology ; Adipose Tissue/metabolism ; Adipose Tissue/pathology ; Adult ; Aged ; Biomarkers, Tumor/metabolism ; Biopsy ; Bronchi/pathology ; Child ; Diagnosis, Differential ; Female ; HMGA2 Protein/metabolism ; Hamartoma/genetics ; Humans ; Immunohistochemistry ; Lipoma/genetics ; Lung Diseases/genetics ; Lung Neoplasms/genetics ; Lung Neoplasms/pathology ; Male ; Middle Aged ; Retrospective Studies ; Trachea/pathology
Czasopismo naukowe
    Wyświetlanie 1-10 z 10

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