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    Tytuł:
    Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting
    Autorzy:
    Soilly, ALAff1, Aff2
    Robert-Viard, CAff2, Aff3
    Besse, C
    Bruel, AL
    Gerard, B
    Boland, A
    Piton, A
    Duffourd, Y
    Muller, JAff6, Aff7, Aff8
    Poë, C
    Jouan, T
    El Doueiri, S
    Faivre, LAff5, Aff10
    Bacq-Daian, D
    Isidor, B
    Genevieve, D
    Odent, SAff13, Aff14
    Philip, N
    Doco-Fenzy, MAff16, Aff17
    Lacombe, D
    Asensio, ML
    Deleuze, JF
    Binquet, C
    Thauvin-Robinet, CAff5, Aff10
    Lejeune, CAff3, IDs1291302309373z_cor26
    Pokaż więcej
    Źródło:
    BMC Health Services Research. 23(1)
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
    Autorzy:
    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.
    Pokaż więcej
    Corporate Authors:
    Xtraordinaire; Xtraordinaire Association, Paris, France.
    GENIDA Project; Institute of Genetics and Molecular and Cellular Biology (IGBMC), Université de Strasbourg, INSERM U1258, CNRS UMR7104, Illkirch, France.
    Źródło:
    Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2363.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Attention Deficit Disorder with Hyperactivity*/genetics
    Attention Deficit Disorder with Hyperactivity*/therapy
    Caregivers*
    Child, Preschool ; Humans ; DEAD-box RNA Helicases ; Self Report ; Infant
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    DNA Methylation Signature for JARID2 -Neurodevelopmental Syndrome.
    Autorzy:
    Verberne EA; Department of Human Genetics, Amsterdam Reproduction & Development Research Institute, Amsterdam University Medical Centers, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
    van der Laan L; Department of Human Genetics, Amsterdam Reproduction & Development Research Institute, Amsterdam University Medical Centers, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
    Haghshenas S; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada.
    Rooney K; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada.; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada.
    Levy MA; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada.
    Alders M; Department of Human Genetics, Amsterdam Reproduction & Development Research Institute, Amsterdam University Medical Centers, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
    Maas SM; Department of Human Genetics, Amsterdam Reproduction & Development Research Institute, Amsterdam University Medical Centers, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
    Jansen S; Department of Human Genetics, Amsterdam Reproduction & Development Research Institute, Amsterdam University Medical Centers, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
    Lieden A; Department of Clinical Genetics, Karolinska University Hospital, 17176 Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, 17176 Stockholm, Sweden.
    Anderlid BM; Department of Clinical Genetics, Karolinska University Hospital, 17176 Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, 17176 Stockholm, Sweden.
    Rafael-Croes L; Department of Pediatrics, Dr. Horacio E. Oduber Hospital, Dr. Horacio E. Oduber Boulevard 1, Oranjestad, Aruba.
    Campeau PM; Department of Pediatrics, University of Montreal, Montreal, QC H4A 3J1, Canada.
    Chaudhry A; Department of Laboratory Medicine and Genetics, Trillium Health Partners, Mississauga, ON L5B 1B8, Canada.; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON M5S 1A8, Canada.
    Koolen DA; Department of Hum Genet, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
    Pfundt R; Department of Hum Genet, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
    Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
    Tran-Mau-Them F; UF6254 Innovation en Diagnostic Genomique des Maladies Rares, 21070 Dijon, France.; Équipe Génétique des Anomalies du Développement (GAD), CHU Dijon-Bourgogne, 21000 Dijon, France.
    Bruel AL; UF6254 Innovation en Diagnostic Genomique des Maladies Rares, 21070 Dijon, France.; Équipe Génétique des Anomalies du Développement (GAD), CHU Dijon-Bourgogne, 21000 Dijon, France.
    Lambert L; Service de Génétique Clinique, CHRU Nancy, 54000 Nancy, France.
    Isidor B; Service de génétique médicale, CHU de Nantes, 44000 Nantes, France.
    Mannens MMAM; Department of Human Genetics, Amsterdam Reproduction & Development Research Institute, Amsterdam University Medical Centers, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
    Sadikovic B; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada.; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada.
    Henneman P; Department of Human Genetics, Amsterdam Reproduction & Development Research Institute, Amsterdam University Medical Centers, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
    van Haelst MM; Department of Human Genetics, Amsterdam Reproduction & Development Research Institute, Amsterdam University Medical Centers, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
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    Źródło:
    International journal of molecular sciences [Int J Mol Sci] 2022 Jul 20; Vol. 23 (14). Date of Electronic Publication: 2022 Jul 20.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    DNA Methylation*
    Polycomb Repressive Complex 2*/genetics
    Humans ; Nucleotide Motifs ; Phenotype ; Protein Processing, Post-Translational ; Syndrome
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array-CGH.
    Autorzy:
    Tisserant E; Inserm UMR 1231 GAD, Faculty of Health Sciences, University of Burgundy and Franche-Comté, Dijon, France.
    Vitobello A; Inserm UMR 1231 GAD, Faculty of Health Sciences, University of Burgundy and Franche-Comté, Dijon, France.; Molecular and chromosomal genetics laboratory, Biology Transfer Platform, Dijon University Hospital, Dijon, France.
    Callegarin D; Molecular and chromosomal genetics laboratory, Biology Transfer Platform, Dijon University Hospital, Dijon, France.
    Verdez S; Molecular and chromosomal genetics laboratory, Biology Transfer Platform, Dijon University Hospital, Dijon, France.
    Bruel AL; Inserm UMR 1231 GAD, Faculty of Health Sciences, University of Burgundy and Franche-Comté, Dijon, France.
    Aho Glele LS; Hospital Hygiene and Epidemiology Unit, Dijon University Hospital, Dijon Cedex, France.
    Sorlin A; Inserm UMR 1231 GAD, Faculty of Health Sciences, University of Burgundy and Franche-Comté, Dijon, France.; Molecular and chromosomal genetics laboratory, Biology Transfer Platform, Dijon University Hospital, Dijon, France.
    Viora-Dupont E; Molecular and chromosomal genetics laboratory, Biology Transfer Platform, Dijon University Hospital, Dijon, France.
    Konyukh M; Molecular and chromosomal genetics laboratory, Biology Transfer Platform, Dijon University Hospital, Dijon, France.
    Marle N; Molecular and chromosomal genetics laboratory, Biology Transfer Platform, Dijon University Hospital, Dijon, France.
    Nambot S; Inserm UMR 1231 GAD, Faculty of Health Sciences, University of Burgundy and Franche-Comté, Dijon, France.; Hospital Hygiene and Epidemiology Unit, Dijon University Hospital, Dijon Cedex, France.
    Moutton S; Inserm UMR 1231 GAD, Faculty of Health Sciences, University of Burgundy and Franche-Comté, Dijon, France.; Molecular and chromosomal genetics laboratory, Biology Transfer Platform, Dijon University Hospital, Dijon, France.; Reference Center for Intellectual Disorders, Dijon University Hospital, Dijon, France.
    Racine C; Inserm UMR 1231 GAD, Faculty of Health Sciences, University of Burgundy and Franche-Comté, Dijon, France.; Molecular and chromosomal genetics laboratory, Biology Transfer Platform, Dijon University Hospital, Dijon, France.; Genetics Department and Reference Center for Developmental Disorders and Malformative Syndromes for East France, FHU TRANSLAD, Dijon University Hospital, Dijon, France.
    Garde A; Inserm UMR 1231 GAD, Faculty of Health Sciences, University of Burgundy and Franche-Comté, Dijon, France.; Molecular and chromosomal genetics laboratory, Biology Transfer Platform, Dijon University Hospital, Dijon, France.
    Delanne J; Inserm UMR 1231 GAD, Faculty of Health Sciences, University of Burgundy and Franche-Comté, Dijon, France.; Genetics Department and Reference Center for Developmental Disorders and Malformative Syndromes for East France, FHU TRANSLAD, Dijon University Hospital, Dijon, France.
    Tran-Mau-Them F; Inserm UMR 1231 GAD, Faculty of Health Sciences, University of Burgundy and Franche-Comté, Dijon, France.
    Philippe C; Inserm UMR 1231 GAD, Faculty of Health Sciences, University of Burgundy and Franche-Comté, Dijon, France.; Molecular and chromosomal genetics laboratory, Biology Transfer Platform, Dijon University Hospital, Dijon, France.
    Kuentz P; Inserm UMR 1231 GAD, Faculty of Health Sciences, University of Burgundy and Franche-Comté, Dijon, France.
    Poulleau M; Molecular and chromosomal genetics laboratory, Biology Transfer Platform, Dijon University Hospital, Dijon, France.
    Payet M; Molecular and chromosomal genetics laboratory, Biology Transfer Platform, Dijon University Hospital, Dijon, France.
    Poe C; Inserm UMR 1231 GAD, Faculty of Health Sciences, University of Burgundy and Franche-Comté, Dijon, France.
    Thauvin-Robinet C; Inserm UMR 1231 GAD, Faculty of Health Sciences, University of Burgundy and Franche-Comté, Dijon, France.; Genetics Department and Reference Center for Developmental Disorders and Malformative Syndromes for East France, FHU TRANSLAD, Dijon University Hospital, Dijon, France.; Reference Center for Intellectual Disorders, Dijon University Hospital, Dijon, France.
    Faivre L; Inserm UMR 1231 GAD, Faculty of Health Sciences, University of Burgundy and Franche-Comté, Dijon, France.; Genetics Department and Reference Center for Developmental Disorders and Malformative Syndromes for East France, FHU TRANSLAD, Dijon University Hospital, Dijon, France.; Reference Center for Intellectual Disorders, Dijon University Hospital, Dijon, France.
    Mosca-Boidron AL; Inserm UMR 1231 GAD, Faculty of Health Sciences, University of Burgundy and Franche-Comté, Dijon, France.; Molecular and chromosomal genetics laboratory, Biology Transfer Platform, Dijon University Hospital, Dijon, France.
    Thevenon J; Inserm UMR 1231 GAD, Faculty of Health Sciences, University of Burgundy and Franche-Comté, Dijon, France.; Genetics Department and Reference Center for Developmental Disorders and Malformative Syndromes for East France, FHU TRANSLAD, Dijon University Hospital, Dijon, France.
    Duffourd Y; Inserm UMR 1231 GAD, Faculty of Health Sciences, University of Burgundy and Franche-Comté, Dijon, France.
    Callier P; Inserm UMR 1231 GAD, Faculty of Health Sciences, University of Burgundy and Franche-Comté, Dijon, France.; Molecular and chromosomal genetics laboratory, Biology Transfer Platform, Dijon University Hospital, Dijon, France.
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    Źródło:
    Annals of human genetics [Ann Hum Genet] 2022 Jul; Vol. 86 (4), pp. 171-180. Date of Electronic Publication: 2022 Feb 09.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Exome*
    Intellectual Disability*/genetics
    Comparative Genomic Hybridization ; DNA Copy Number Variations ; Genomics ; Humans ; Exome Sequencing
    Czasopismo naukowe
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    Tytuł:
    Atypical phenotype of a patient with Bardet-Biedl syndrome type 4.
    Autorzy:
    Sloboda N; Service de Génétique Clinique, CHRU Nancy, Nancy, France.
    Lambert L; Service de Génétique Clinique, CHRU Nancy, Nancy, France.
    Ciorna V; Service de Génétique, CHR Metz-Thionville, France.
    Bruel AL; Laboratoire de génétique, Innovation en diagnostic génomique des maladies rares UF6254, Plate-forme de Biologie Hospitalo-Universitaire, CHU Dijon, Dijon, France.
    Tran Mau-Them F; Laboratoire de génétique, Innovation en diagnostic génomique des maladies rares UF6254, Plate-forme de Biologie Hospitalo-Universitaire, CHU Dijon, Dijon, France.; INSERM U1231, LNC UMR1231 GAD, Université de Bourgogne, Dijon, France.
    Gomola V; Service de Chirurgie Viscérale Infantile, CHRU Nancy, Nancy, France.
    Lemelle JL; Service de Chirurgie Viscérale Infantile, CHRU Nancy, Nancy, France.
    Klein O; Service de Neurochirurgie Pédiatrique, CHRU Nancy, Nancy, France.
    Camoin-Schweitzer MC; Service de néphrologie pédiatrique, dialyse, transplantation rénale, CHRU Nancy, Nancy, France.
    Magnavacca M; Service de néphrologie pédiatrique, dialyse, transplantation rénale, CHRU Nancy, Nancy, France.
    Legagneur C; Unité d'Endocrinologie Pédiatrique et Diabétologie, CHRU Nancy, Nancy, France.
    Ezsto ML; Service de Gynécologie-Obstétrique, CHR Metz-Thionville, France.
    Bonnet C; Laboratoire de Génétique, CHRU Nancy, Nancy, France.
    Philippe C; Laboratoire de génétique, Innovation en diagnostic génomique des maladies rares UF6254, Plate-forme de Biologie Hospitalo-Universitaire, CHU Dijon, Dijon, France.; INSERM U1231, LNC UMR1231 GAD, Université de Bourgogne, Dijon, France.
    Leheup B; Service de Génétique Clinique, CHRU Nancy, Nancy, France.
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    Źródło:
    Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2022 May; Vol. 10 (5), pp. e1869. Date of Electronic Publication: 2022 Mar 23.
    Typ publikacji:
    Case Reports; Journal Article
    MeSH Terms:
    Bardet-Biedl Syndrome*/diagnosis
    Polydactyly*/genetics
    Female ; Humans ; Male ; Phenotype ; Exome Sequencing
    SCR Disease Name:
    Bardet-Biedl syndrome 4
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.
    Autorzy:
    Tran Mau-Them F; Unité Fonctionnelle 6254 d'Innovation en Diagnostique Génomique des Maladies Rares, Pôle de Biologie, CHU Dijon Bourgogne, Dijon, France.; Inserm - Université de Bourgogne UMR1231 GAD, FHU-TRANSLAD, Dijon, France.
    Duffourd Y; Inserm - Université de Bourgogne UMR1231 GAD, FHU-TRANSLAD, Dijon, France.; FHU-TRANSLAD, Dijon, France.
    Vitobello A; Unité Fonctionnelle 6254 d'Innovation en Diagnostique Génomique des Maladies Rares, Pôle de Biologie, CHU Dijon Bourgogne, Dijon, France.; Inserm - Université de Bourgogne UMR1231 GAD, FHU-TRANSLAD, Dijon, France.
    Bruel AL; Unité Fonctionnelle 6254 d'Innovation en Diagnostique Génomique des Maladies Rares, Pôle de Biologie, CHU Dijon Bourgogne, Dijon, France.; Inserm - Université de Bourgogne UMR1231 GAD, FHU-TRANSLAD, Dijon, France.
    Denommé-Pichon AS; Unité Fonctionnelle 6254 d'Innovation en Diagnostique Génomique des Maladies Rares, Pôle de Biologie, CHU Dijon Bourgogne, Dijon, France.; Inserm - Université de Bourgogne UMR1231 GAD, FHU-TRANSLAD, Dijon, France.
    Nambot S; Centre de Référence Maladies Rares « Anomalies du Développement et Syndrome Malformatifs » de l'Est, Hôpital d'Enfants, CHU Dijon Bourgogne, Dijon, France.
    Delanne J; Centre de Référence Maladies Rares « Anomalies du Développement et Syndrome Malformatifs » de l'Est, Hôpital d'Enfants, CHU Dijon Bourgogne, Dijon, France.
    Moutton S; Centre de Référence Maladies Rares « Anomalies du Développement et Syndrome Malformatifs » de l'Est, Hôpital d'Enfants, CHU Dijon Bourgogne, Dijon, France.
    Sorlin A; Centre de Référence Maladies Rares « Anomalies du Développement et Syndrome Malformatifs » de l'Est, Hôpital d'Enfants, CHU Dijon Bourgogne, Dijon, France.
    Couturier V; Unité Fonctionnelle 6254 d'Innovation en Diagnostique Génomique des Maladies Rares, Pôle de Biologie, CHU Dijon Bourgogne, Dijon, France.; Inserm - Université de Bourgogne UMR1231 GAD, FHU-TRANSLAD, Dijon, France.
    Bourgeois V; Unité Fonctionnelle 6254 d'Innovation en Diagnostique Génomique des Maladies Rares, Pôle de Biologie, CHU Dijon Bourgogne, Dijon, France.; Inserm - Université de Bourgogne UMR1231 GAD, FHU-TRANSLAD, Dijon, France.
    Chevarin M; Unité Fonctionnelle 6254 d'Innovation en Diagnostique Génomique des Maladies Rares, Pôle de Biologie, CHU Dijon Bourgogne, Dijon, France.; Inserm - Université de Bourgogne UMR1231 GAD, FHU-TRANSLAD, Dijon, France.
    Poe C; Unité Fonctionnelle 6254 d'Innovation en Diagnostique Génomique des Maladies Rares, Pôle de Biologie, CHU Dijon Bourgogne, Dijon, France.; Inserm - Université de Bourgogne UMR1231 GAD, FHU-TRANSLAD, Dijon, France.
    Mosca-Boidron AL; Laboratoire de Génétique Chromosomique et Moléculaire, CHU de Dijon, France.
    Callier P; Laboratoire de Génétique Chromosomique et Moléculaire, CHU de Dijon, France.
    Safraou H; Unité Fonctionnelle 6254 d'Innovation en Diagnostique Génomique des Maladies Rares, Pôle de Biologie, CHU Dijon Bourgogne, Dijon, France.; Inserm - Université de Bourgogne UMR1231 GAD, FHU-TRANSLAD, Dijon, France.
    Faivre L; Inserm - Université de Bourgogne UMR1231 GAD, FHU-TRANSLAD, Dijon, France.; Centre de Référence Maladies Rares « Anomalies du Développement et Syndrome Malformatifs » de l'Est, Hôpital d'Enfants, CHU Dijon Bourgogne, Dijon, France.
    Philippe C; Unité Fonctionnelle 6254 d'Innovation en Diagnostique Génomique des Maladies Rares, Pôle de Biologie, CHU Dijon Bourgogne, Dijon, France.; Inserm - Université de Bourgogne UMR1231 GAD, FHU-TRANSLAD, Dijon, France.
    Thauvin-Robinet C; Unité Fonctionnelle 6254 d'Innovation en Diagnostique Génomique des Maladies Rares, Pôle de Biologie, CHU Dijon Bourgogne, Dijon, France.; Inserm - Université de Bourgogne UMR1231 GAD, FHU-TRANSLAD, Dijon, France.; FHU-TRANSLAD, Dijon, France.; Centre de Référence Maladies Rares «Déficiences Intellectuelles de Causes Rares», Hôpital d'Enfants, CHU Dijon Bourgogne, Dijon, France.
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    Corporate Authors:
    Orphanomix Physician’s Group; FHU-TRANSLAD, Dijon, France.
    Źródło:
    Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Dec; Vol. 9 (12), pp. e1836. Date of Electronic Publication: 2021 Oct 30.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Genetic Predisposition to Disease*
    Genetic Testing*
    Translational Research, Biomedical*/methods
    Translational Research, Biomedical*/standards
    Exome Sequencing*/methods
    Exome Sequencing*/standards
    Rare Diseases/*diagnosis
    Rare Diseases/*genetics
    Genetic Markers ; Genome-Wide Association Study ; Humans ; Reproducibility of Results ; Research Design ; Sensitivity and Specificity ; Sequence Analysis, DNA ; Workflow
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum.
    Autorzy:
    Hüffmeier U; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany. .
    Kraus C; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany.
    Reuter MS; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany.
    Uebe S; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany.
    Abbott MA; Medical Genetics, Department of Pediatrics, University of Massachusetts Medical School - Baystate, Springfield, MA, USA.
    Ahmed SA; Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, Riverside, CA, USA.
    Rawson KL; Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, Riverside, CA, USA.
    Barr E; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, 30322, USA.
    Li H; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, 30322, USA.
    Bruel AL; UMR-Inserm 1231 GAD Team, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, 21000, Dijon, France.; Laboratoire de Génétique Chromosomique et Moléculaire, UF Innovation en diagnostic génomique des maladies rares, Plateau de Biologie Hospitalo-Universitaire, Centre Hospitalier Universitaire de Dijon, Dijon, France.
    Faivre L; UMR-Inserm 1231 GAD Team, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, 21000, Dijon, France.; Centre de Génétique, Centre de Référence «Anomalies du Développement et Syndromes Malformatifs» et FHU TRANSLAD, Hôpital D'Enfants, Centre Hospitalier Universitaire de Dijon, Dijon, France.
    Tran Mau-Them F; UMR-Inserm 1231 GAD Team, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, 21000, Dijon, France.; Laboratoire de Génétique Chromosomique et Moléculaire, UF Innovation en diagnostic génomique des maladies rares, Plateau de Biologie Hospitalo-Universitaire, Centre Hospitalier Universitaire de Dijon, Dijon, France.
    Botti C; Division of Medical Genetics, Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, 08901, USA.
    Brooks S; Division of Medical Genetics, Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, 08901, USA.
    Burns K; Sanford Health, Sioux Falls, SD, USA.
    Ward DI; Sanford Health, Sioux Falls, SD, USA.
    Dutra-Clarke M; Division of Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, 90095, USA.
    Martinez-Agosto JA; Division of Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, 90095, USA.; Department of Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, 90095, USA.
    Lee H; Department of Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, 90095, USA.; Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, 90095, USA.
    Nelson SF; Division of Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, 90095, USA.; Department of Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, 90095, USA.; Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, 90095, USA.
    Zacher P; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Epilepsy Center Kleinwachau, Radeberg, Germany.
    Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
    Klöckner C; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
    McGaughran J; Genetic Health Queensland, Royal Brisbane and Woman's Hospital, Brisbane, Australia.; School of Medicine, The University of Queensland, St Lucia, Brisbane, Australia.
    Kohlhase J; Synlab Human Genetics Freiburg, Freiburg, Germany.
    Schuhmann S; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany.
    Moran E; Clinical Genetics, Hassenfeld Children's Hospital at NYU Langone, NYU Langone, Orthopedic Hospital, New York, NY, USA.
    Pappas J; Division of Clinical Genetic Services, Department of Pediatrics, NYU Grossman School of Medicine, New York, NY, USA.
    Raas-Rothschild A; Sackler School of Medicine at Tel Aviv University, Tel Aviv, Israel.; Institute of Rare Diseases, Edmond & Lily Safra Children Hospital, Tel Hashomer, Israel.
    Sacoto MJG; GeneDx, Gaithersburg, MD, 20877, USA.
    Henderson LB; GeneDx, Gaithersburg, MD, 20877, USA.
    Palculict TB; GeneDx, Gaithersburg, MD, 20877, USA.
    Mullegama SV; GeneDx, Gaithersburg, MD, 20877, USA.
    Zghal Elloumi H; GeneDx, Gaithersburg, MD, 20877, USA.
    Reich A; GeneDx, Gaithersburg, MD, 20877, USA.
    Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.
    Wahl E; Division of Genetics, UBMD Pediatrics, Buffalo, NY, USA.
    Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany.
    Zweier C; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany.; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
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    Corporate Authors:
    UCLA California Center for Rare Disease
    Źródło:
    Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Mar 18; Vol. 16 (1), pp. 136. Date of Electronic Publication: 2021 Mar 18.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Cleft Lip*
    Cleft Palate*
    Intellectual Disability*/genetics
    Microcephaly*
    Neurodevelopmental Disorders*/genetics
    Eukaryotic Initiation Factor-3 ; Humans
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
    Autorzy:
    Kim HG; 1Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar.
    Rosenfeld JA; 2Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX USA.
    Scott DA; 2Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX USA.; 3Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX USA.
    Bénédicte G; 4Laboratoires de Diagnostic Génétique, Unité de génétique moléculaire, Nouvel Hôpital Civil, Strasbourg Cedex, France.
    Labonne JD; 5Section of Reproductive Endocrinology, Infertility & Genetics, Department of Obstetrics & Gynecology, Augusta University, Augusta, GA USA.
    Brown J; 5Section of Reproductive Endocrinology, Infertility & Genetics, Department of Obstetrics & Gynecology, Augusta University, Augusta, GA USA.
    McGuire M; Baylor Genetic Laboratories, Houston, TX USA.
    Mahida S; 7Kennedy Krieger Institute, Baltimore, MD USA.
    Naidu S; 7Kennedy Krieger Institute, Baltimore, MD USA.
    Gutierrez J; 3Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX USA.
    Lesca G; 8Department of Medical Genetics, Lyon University Hospital, Lyon, France.
    des Portes V; 9Department of Pediatric Neurology, Lyon University Hospital, Lyon, France.
    Bruel AL; 10Équipe Génétique des Anomalies du Développement (GAD), INSERM, Dijon, France.
    Sorlin A; Centre de Génétique, CHU Dijon Bourgogne, Dijon, France.
    Xia F; 2Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX USA.
    Capri Y; Service de Génétique Clinique, CHU Robert Debré, Paris, France.
    Muller E; 13Clinical Genetics, Stanford Children's Health at CPMC, San Francisco, CA USA.
    McKnight D; 14GeneDx, Gaithersburg, MD USA.
    Torti E; 14GeneDx, Gaithersburg, MD USA.
    Rüschendorf F; 15Max Delbrück Center (MDC) for Molecular Medicine, Berlin, Germany.
    Hummel O; 15Max Delbrück Center (MDC) for Molecular Medicine, Berlin, Germany.
    Islam Z; 16Diabetes Center, Qatar Biomedical Research Institute (QBRI), Hamad Bin Khalifa University, Doha, Qatar.
    Kolatkar PR; 16Diabetes Center, Qatar Biomedical Research Institute (QBRI), Hamad Bin Khalifa University, Doha, Qatar.
    Layman LC; 5Section of Reproductive Endocrinology, Infertility & Genetics, Department of Obstetrics & Gynecology, Augusta University, Augusta, GA USA.; 17Department of Neuroscience and Regenerative Medicine, Augusta University, Augusta, GA USA.
    Ryu D; 18Department of Statistics and Actuarial Science, Northern Illinois University, DeKalb, IL USA.
    Kong IK; 19Department of Animal Science, Division of Applied Life Science (BK21plus), Gyeongsang National University, Jinju, Korea.
    Madan-Khetarpal S; 20Pediatric Medical Genetics, Children's Hospital of Pittsburgh, Pittsburgh, PA USA.
    Kim CH; 21Department of Biology, Chungnam National University, Daejeon, Korea.
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    Źródło:
    Molecular autism [Mol Autism] 2019 Oct 22; Vol. 10, pp. 35. Date of Electronic Publication: 2019 Oct 22 (Print Publication: 2019).
    Typ publikacji:
    Case Reports; Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Behavior*
    Autistic Disorder/*genetics
    Craniofacial Abnormalities/*genetics
    Epilepsy/*genetics
    Histone Deacetylases/*genetics
    Intellectual Disability/*genetics
    Muscle Hypotonia/*genetics
    Adolescent ; Amino Acid Sequence ; Autistic Disorder/complications ; Brain/metabolism ; Child ; Child, Preschool ; Craniofacial Abnormalities/complications ; Epilepsy/complications ; Female ; Histone Deacetylases/chemistry ; Histone Deacetylases/metabolism ; Humans ; Infant ; Infant, Newborn ; Intellectual Disability/complications ; Male ; Muscle Hypotonia/complications ; Mutation/genetics ; Protein Domains ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; Syndrome
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone.
    Autorzy:
    Li C; Department of Molecular Biology and Biochemistry and Centre for Cell Biology, Development and Disease, Simon Fraser University, Burnaby, British Columbia, Canada.
    Jensen VL; Department of Molecular Biology and Biochemistry and Centre for Cell Biology, Development and Disease, Simon Fraser University, Burnaby, British Columbia, Canada.
    Park K; Department of Molecular Biology and Biochemistry and Centre for Cell Biology, Development and Disease, Simon Fraser University, Burnaby, British Columbia, Canada.
    Kennedy J; School of Biomolecular & Biomedical Science, University College Dublin, Belfield, Dublin 4, Ireland.
    Garcia-Gonzalo FR; Department of Biochemistry and Biophysics, Cardiovascular Research Institute, University of California, San Francisco, San Francisco, California, United States of America.
    Romani M; Neurogenetics Unit, Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
    De Mori R; Neurogenetics Unit, Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
    Bruel AL; EA4271 GAD Génétique des Anomalies du Développement, FHU-TRANSLAD, Université Fédérale Bourgogne Franche-Comté, Dijon, France.
    Gaillard D; Service de Génétique clinique, CHU Reims, Reims, France.
    Doray B; Service de Génétique clinique, CHRU Strasbourg, Strasbourg, France.
    Lopez E; EA4271 GAD Génétique des Anomalies du Développement, FHU-TRANSLAD, Université Fédérale Bourgogne Franche-Comté, Dijon, France.
    Rivière JB; EA4271 GAD Génétique des Anomalies du Développement, FHU-TRANSLAD, Université Fédérale Bourgogne Franche-Comté, Dijon, France.; Laboratoire de Génétique moléculaire, Plateau Technique de Biologie, CHU Dijon, Dijon, France.
    Faivre L; EA4271 GAD Génétique des Anomalies du Développement, FHU-TRANSLAD, Université Fédérale Bourgogne Franche-Comté, Dijon, France.; Centre de Génétique, FHU-TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France.
    Thauvin-Robinet C; EA4271 GAD Génétique des Anomalies du Développement, FHU-TRANSLAD, Université Fédérale Bourgogne Franche-Comté, Dijon, France.; Centre de Génétique, FHU-TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France.
    Reiter JF; Department of Biochemistry and Biophysics, Cardiovascular Research Institute, University of California, San Francisco, San Francisco, California, United States of America.
    Blacque OE; School of Biomolecular & Biomedical Science, University College Dublin, Belfield, Dublin 4, Ireland.
    Valente EM; Neurogenetics Unit, Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.; Department of Medicine and Surgery, University of Salerno, Salerno, Italy.
    Leroux MR; Department of Molecular Biology and Biochemistry and Centre for Cell Biology, Development and Disease, Simon Fraser University, Burnaby, British Columbia, Canada.
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    Źródło:
    PLoS biology [PLoS Biol] 2016 Mar 16; Vol. 14 (3), pp. e1002416. Date of Electronic Publication: 2016 Mar 16 (Print Publication: 2016).
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Caenorhabditis elegans Proteins/*metabolism
    Cilia/*physiology
    Membrane Proteins/*metabolism
    Microtubule-Associated Proteins/*metabolism
    Amino Acid Sequence ; Animals ; Caenorhabditis elegans ; Caenorhabditis elegans Proteins/genetics ; Cyclin-Dependent Kinases/metabolism ; Humans ; Membrane Proteins/genetics ; Molecular Sequence Data ; Orofaciodigital Syndromes/genetics
    SCR Disease Name:
    Orofaciodigital syndrome 6
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.
    Autorzy:
    Thauvin-Robinet C; 1] Equipe d'Accueil 4271 Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire, Université de Bourgogne, Dijon, France. [2] Centre de Référence Maladies Rares 'Anomalies du Développement et Syndromes Malformatifs' de l'Est, Centre de Génétique et Pédiatrie 1, Hôpital d'Enfants, Centre Hospitalier Universitaire Dijon, Dijon, France. [3].
    Lee JS; 1] Department of Molecular and Cellular Physiology, Stanford University School of Medicine, Stanford, California, USA. [2].
    Lopez E; Equipe d'Accueil 4271 Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire, Université de Bourgogne, Dijon, France.
    Herranz-Pérez V; 1] Laboratorio de Neurobiología Comparada, Instituto Cavanilles, Universitat de València, Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas, Valencia, Spain. [2] Unidad Mixta de Esclerosis Múltiple y Neurorregeneración, Instituto de Investigación Sanitaria Hospital La Fe, Universitat de València, Valencia, Spain.
    Shida T; Department of Molecular and Cellular Physiology, Stanford University School of Medicine, Stanford, California, USA.
    Franco B; 1] Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy. [2] Department of Medical Translational Sciences, Division of Pediatrics, Federico II University of Naples, Naples, Italy.
    Jego L; Equipe d'Accueil 4271 Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire, Université de Bourgogne, Dijon, France.
    Ye F; Department of Molecular and Cellular Physiology, Stanford University School of Medicine, Stanford, California, USA.
    Pasquier L; Centre de Référence Maladies Rares 'Anomalies du Développement et Syndromes Malformatifs' de l'Ouest, Unité Fonctionnelle de Génétique Médicale, Centre Hospitalier Universitaire Rennes, Rennes, France.
    Loget P; Laboratoire d'Anatomie-Pathologie, Centre Hospitalier Universitaire Rennes, Rennes, France.
    Gigot N; 1] Equipe d'Accueil 4271 Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire, Université de Bourgogne, Dijon, France. [2] Laboratoire de Génétique Moléculaire, Plateau Technique de Biologie, Centre Hospitalier Universitaire Dijon, Dijon, France.
    Aral B; 1] Equipe d'Accueil 4271 Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire, Université de Bourgogne, Dijon, France. [2] Laboratoire de Génétique Moléculaire, Plateau Technique de Biologie, Centre Hospitalier Universitaire Dijon, Dijon, France.
    Lopes CA; Department of Biochemistry, University of Leicester, Leicester, UK.
    St-Onge J; 1] Equipe d'Accueil 4271 Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire, Université de Bourgogne, Dijon, France. [2] Laboratoire de Génétique Moléculaire, Plateau Technique de Biologie, Centre Hospitalier Universitaire Dijon, Dijon, France.
    Bruel AL; Equipe d'Accueil 4271 Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire, Université de Bourgogne, Dijon, France.
    Thevenon J; 1] Equipe d'Accueil 4271 Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire, Université de Bourgogne, Dijon, France. [2] Centre de Référence Maladies Rares 'Anomalies du Développement et Syndromes Malformatifs' de l'Est, Centre de Génétique et Pédiatrie 1, Hôpital d'Enfants, Centre Hospitalier Universitaire Dijon, Dijon, France.
    González-Granero S; 1] Laboratorio de Neurobiología Comparada, Instituto Cavanilles, Universitat de València, Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas, Valencia, Spain. [2] Unidad Mixta de Esclerosis Múltiple y Neurorregeneración, Instituto de Investigación Sanitaria Hospital La Fe, Universitat de València, Valencia, Spain.
    Alby C; 1] INSERM U781, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France. [2] Paris Descartes-Sorbonne Paris Cité University, Institut IMAGINE, Paris, France.
    Munnich A; 1] INSERM U781, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France. [2] Paris Descartes-Sorbonne Paris Cité University, Institut IMAGINE, Paris, France. [3] Département de Génétique, Hôpital Necker-Enfants Malades, Paris, France.
    Vekemans M; 1] INSERM U781, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France. [2] Paris Descartes-Sorbonne Paris Cité University, Institut IMAGINE, Paris, France. [3] Département de Génétique, Hôpital Necker-Enfants Malades, Paris, France.
    Huet F; 1] Equipe d'Accueil 4271 Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire, Université de Bourgogne, Dijon, France. [2] Centre de Référence Maladies Rares 'Anomalies du Développement et Syndromes Malformatifs' de l'Est, Centre de Génétique et Pédiatrie 1, Hôpital d'Enfants, Centre Hospitalier Universitaire Dijon, Dijon, France.
    Fry AM; Department of Biochemistry, University of Leicester, Leicester, UK.
    Saunier S; 1] Paris Descartes-Sorbonne Paris Cité University, Institut IMAGINE, Paris, France. [2] INSERM, UMRS 1163, Laboratory of Inherited Kidney Diseases, Paris, France.
    Rivière JB; 1] Equipe d'Accueil 4271 Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire, Université de Bourgogne, Dijon, France. [2] Laboratoire de Génétique Moléculaire, Plateau Technique de Biologie, Centre Hospitalier Universitaire Dijon, Dijon, France.
    Attié-Bitach T; 1] INSERM U781, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France. [2] Paris Descartes-Sorbonne Paris Cité University, Institut IMAGINE, Paris, France. [3] Département de Génétique, Hôpital Necker-Enfants Malades, Paris, France.
    Garcia-Verdugo JM; 1] Laboratorio de Neurobiología Comparada, Instituto Cavanilles, Universitat de València, Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas, Valencia, Spain. [2] Unidad Mixta de Esclerosis Múltiple y Neurorregeneración, Instituto de Investigación Sanitaria Hospital La Fe, Universitat de València, Valencia, Spain.
    Faivre L; 1] Equipe d'Accueil 4271 Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire, Université de Bourgogne, Dijon, France. [2] Centre de Référence Maladies Rares 'Anomalies du Développement et Syndromes Malformatifs' de l'Est, Centre de Génétique et Pédiatrie 1, Hôpital d'Enfants, Centre Hospitalier Universitaire Dijon, Dijon, France.
    Mégarbané A; Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon.
    Nachury MV; Department of Molecular and Cellular Physiology, Stanford University School of Medicine, Stanford, California, USA.
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    Źródło:
    Nature genetics [Nat Genet] 2014 Aug; Vol. 46 (8), pp. 905-11. Date of Electronic Publication: 2014 Jul 06.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Centrioles/*genetics
    Microtubule-Associated Proteins/*genetics
    Orofaciodigital Syndromes/*genetics
    Cell Line ; Child, Preschool ; Genetic Predisposition to Disease ; HEK293 Cells ; Humans ; Male ; Microcephaly/genetics ; Proteins/genetics
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
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