Saturation transfer (CEST and MT) MRI for characterization of U-87 MG glioma in the rat.

Autor: Lam WW; Physical Sciences Platform, Sunnybrook Research Institute, Toronto, Ontario, Canada., Chudzik A; Department of Neurosurgery and Paediatric Neurosurgery, Medical University of Lublin, Lublin, Poland., Lehman N; Department of Neurosurgery and Paediatric Neurosurgery, Medical University of Lublin, Lublin, Poland., Łazorczyk A; Department of Radiography, Medical University of Lublin, Lublin, Poland., Kozioł P; Department of Radiography, Medical University of Lublin, Lublin, Poland., Niedziałek A; Department of Radiography, Medical University of Lublin, Lublin, Poland., Gananathan A; Physical Sciences Platform, Sunnybrook Research Institute, Toronto, Ontario, Canada., Orzyłowska A; Department of Neurosurgery and Paediatric Neurosurgery, Medical University of Lublin, Lublin, Poland., Rola R; Department of Neurosurgery and Paediatric Neurosurgery, Medical University of Lublin, Lublin, Poland., Stanisz GJ; Physical Sciences Platform, Sunnybrook Research Institute, Toronto, Ontario, Canada.; Department of Neurosurgery and Paediatric Neurosurgery, Medical University of Lublin, Lublin, Poland.; Department of Medical Biophysics, University of Toronto, Toronto, Ontario, Canada.

Publikováno v: NMR in biomedicine [NMR Biomed] 2025 Jan; Vol. 38 (1), pp. e5282. Date of Electronic Publication: 2024 Oct 29.

Expression of CD226 on γδ T cells is lower in advanced chronic lymphocytic leukemia and correlates with IgA, IgG and LDH levels.

Autor: Zarobkiewicz MK; Department of Clinical Immunology, Medical University of Lublin, Poland., Lehman N; Department of Clinical Immunology, Medical University of Lublin, Poland., Kowalska W; Department of Clinical Immunology, Medical University of Lublin, Poland., Dąbrowska I; Department of Interventional Radiology and Neuroradiology, Medical University of Lublin, Poland., Bojarska-Junak A; Department of Clinical Immunology, Medical University of Lublin, Poland.

Publikováno v: Advances in clinical and experimental medicine : official organ Wroclaw Medical University [Adv Clin Exp Med] 2024 May 31. Date of Electronic Publication: 2024 May 31.

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Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.

Autor: Ruault V; Genetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.; Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes, Genetics Department, Montpellier Hospital, Montpellier, France., Burger P; Institute of Genetics and Molecular and Cellular Biology (IGBMC), Université de Strasbourg, INSERM U1258, CNRS UMR7104, Illkirch, France., Gradels-Hauguel J; Center for Rare Psychiatric Disorders - GHU Paris Psychiatrie et Neurosciences - Paris - France APHP, GHU Sainte Anne, Paris, France., Ruiz N; Genetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.; Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes, Genetics Department, Montpellier Hospital, Montpellier, France., Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Afenjar A; Département de Génétique Paris, Centre de Référence Malformations et maladies congénitales du cervelet et déficiences intellectuelles de causes rares, APHP, Sorbonne Université, Paris, France., Alembik Y; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Alessandri JL; CHU La Réunion, Service de génétique, Saint Denis, France., Arpin S; Genetics Department, University Hospital, UMR1253 iBrain INSERM, University of Tours, Tours, France., Barcia G; Service de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France., Bendová Š; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Bruel AL; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement', FHUTRANSLAD, Dijon, France., Charles P; APHP La Pitié Salpétrière, Paris, France., Chatron N; Department of Medical Genetics, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon, France.; Pathophysiology and Genetics of Neuron and Muscle (PNMG), UCBL, CNRS UMR5261 - INSERM U1315, Lyon, France., Chopra M; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, Massachusetts, USA.; Genetic Department, Harvard Medical School, Boston, Massachusetts, USA., Conrad S; Genetic Department, CHU Nantes, Service de Génétique, Nantes, France., Daire VC; Service de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France., Cospain A; Genetic Department, CHU Rennes, Service de Génétique, CLAD Ouest CRDI, Rennes, France., Coubes C; Genetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.; Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes, Genetics Department, Montpellier Hospital, Montpellier, France., Coursimault J; Department of Genetics and Reference Center for Developmental Disorders, University of Rouen Normandie, Inserm U1245, CHU Rouen, Rouen, France., Delahaye-Duriez A; Medical Genomics and Clinical Genetics Unit, AP-HP, Hôpital Jean Verdier, Bondy, France.; Genetic Department, UFR SMBH, Université Sorbonne Paris Nord, Paris, France.; Genetic Department, Inserm 1141 NeuroDiderot, Paris, France., Doco M; Genetic Department, CHU Nantes, Service de Génétique, Nantes, France.; Centre Hospitalier Universitaire de Reims, Pôle de Biologie Médicale et Pathologie, Service de Génétique, Reims, France., Dufour W; Department of Medical Genetics, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon, France., Durand B; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Engel C; Oncobiologie Génétique Bioinformatique, PC BIO, CHU Besançon, Besançon, France., Faivre L; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Centre de Génétique et Centre de référence maladies rares « Anomalies du Développement et Syndromes Malformatifs », FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France., Ferroul F; CHU La Réunion, Service de génétique, Saint Denis, France., Fradin M; Genetic Department, CHU Rennes, Service de Génétique, CLAD Ouest CRDI, Rennes, France.; CH Saint Brieuc, Service de Génétique, Saint Brieux, France., Frenkiel H; Xtraordinaire Association, Paris, France., Fusco C; Child Neurology and Psychiatry Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy., Garavelli L; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy., Garde A; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Centre de Génétique et Centre de référence maladies rares « Anomalies du Développement et Syndromes Malformatifs », FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France., Gerard B; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Germanaud D; Genetic Department, CEA Paris-Saclay, NeuroSpin, Gif-sur-Yvette, France.; Département de Génétique, Centre de référence Déficiences intellectuelles de causes rares, Assistance publique-Hopitaux de Paris (AP-HP), Hopital Robert-Debré, Paris, France., Goujon L; Genetic Department, CEA Paris-Saclay, NeuroSpin, Gif-sur-Yvette, France.; Département de Génétique, Centre de référence Déficiences intellectuelles de causes rares, Assistance publique-Hopitaux de Paris (AP-HP), Hopital Robert-Debré, Paris, France., Gouronc A; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Ginglinger E; Génétique médicale GHRMSA, Hopital Emile Muller, Mulhouse, France., Goldenberg A; Department of Genetics and Reference Center for Developmental Disorders, University of Rouen Normandie, Inserm U1245, CHU Rouen, Rouen, France., Hancarova M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Havlovicová M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Heron D; APHP Trousseau, Paris, France., Isidor B; Genetic Department, CHU Nantes, Service de Génétique, Nantes, France., Marçais NJ; Genetic Department, CHU Rennes, Service de Génétique, CLAD Ouest CRDI, Rennes, France., Keren B; Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, APHP Sorbonne Université, Paris, France., Koch-Hogrebe M; Institute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Kuentz P; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement', FHUTRANSLAD, Dijon, France.; Oncobiologie Génétique Bioinformatique, PC BIO, CHU Besançon, Besançon, France., Lamure V; Genetic Department, UFR SMBH, Université Sorbonne Paris Nord, Paris, France., Lebre AS; Centre Hospitalier Universitaire de Reims, Pôle de Biologie Médicale et Pathologie, Service de Génétique, Reims, France.; Institute of Psychiatry and Neuroscience of Paris (IPNP), INSERM U1266, Université Paris Cité, Paris, France., Lecoquierre F; Department of Genetics and Reference Center for Developmental Disorders, University of Rouen Normandie, Inserm U1245, CHU Rouen, Rouen, France., Lehman N; Genetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.; Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes, Genetics Department, Montpellier Hospital, Montpellier, France., Lesca G; Department of Medical Genetics, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon, France.; Pathophysiology and Genetics of Neuron and Muscle (PNMG), UCBL, CNRS UMR5261 - INSERM U1315, Lyon, France., Lyonnet S; Service de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.; Laboratoire Embryologie et Génétique des Malformations, Université Paris Cité, INSERM, IHU Imagine - Institut des maladies génétiques, Paris, France., Martin D; Xtraordinaire Association, Paris, France., Mignot C; Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, APHP Sorbonne Université, Paris, France., Neuhann TM; Genetic Department, Medizinisch Genetisches Zentrum, Munich, Germany., Nicolas G; Department of Genetics and Reference Center for Developmental Disorders, University of Rouen Normandie, Inserm U1245, CHU Rouen, Rouen, France., Nizon M; Genetic Department, CHU Nantes, Service de Génétique, Nantes, France., Petit F; Genetic Department, CHU Lille, Clinique de Génétique Guy Fontaine, Lille, France., Philippe C; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement', FHUTRANSLAD, Dijon, France., Piton A; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Pollazzon M; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy., Prchalová D; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Putoux A; Department of Medical Genetics, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon, France.; INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, GENDEV Team, Université Claude Bernard Lyon 1, Bron, France., Rio M; Service de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France., Rondeau S; Service de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France., Rossi M; Department of Medical Genetics, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon, France.; INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, GENDEV Team, Université Claude Bernard Lyon 1, Bron, France., Sabbagh Q; Genetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.; Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes, Genetics Department, Montpellier Hospital, Montpellier, France., Saugier-Veber P; Department of Genetics and Reference Center for Developmental Disorders, University of Rouen Normandie, Inserm U1245, CHU Rouen, Rouen, France., Schmetz A; Institute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Steffann J; Service de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France., Thauvin-Robinet C; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement', FHUTRANSLAD, Dijon, France.; Centre de Génétique et Centre de référence maladies rares « Anomalies du Développement et Syndromes Malformatifs », FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France., Toutain A; Genetics Department, University Hospital, UMR1253 iBrain INSERM, University of Tours, Tours, France., Them FTM; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement', FHUTRANSLAD, Dijon, France., Trimarchi G; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy., Vincent M; Genetic Department, CHU Nantes, Service de Génétique, Nantes, France., Vlčková M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Wieczorek D; Institute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Willems M; Genetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.; Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes, Genetics Department, Montpellier Hospital, Montpellier, France., Yauy K; Genetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.; Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes, Genetics Department, Montpellier Hospital, Montpellier, France., Zelinová M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Ziegler A; Genetic Department, Service de Génétique, CHU d'Angers, Angers Cedex 9, France., Chaumette B; Center for Rare Psychiatric Disorders - GHU Paris Psychiatrie et Neurosciences - Paris - France APHP, GHU Sainte Anne, Paris, France.; Institute of Psychiatry and Neuroscience of Paris, Université Paris Cité, INSERM U1266, Paris, France.; Department of Psychiatry, McGill University, Montreal, Quebec, Canada., Sadikovic B; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada., Mandel JL; Institute of Genetics and Molecular and Cellular Biology (IGBMC), Université de Strasbourg, INSERM U1258, CNRS UMR7104, Illkirch, France.; Genetic Department, University of Strasbourg Institute for Advanced Studies (USIAS), Strasbourg, France., Geneviève D; Genetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.; Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes, Genetics Department, Montpellier Hospital, Montpellier, France.

Publikováno v: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2363.