Temple–Baraitser syndrome: A rare and possibly unrecognized conditionHow to Cite this Article: Jacquinet A, Gérard M, Gabbett MT, Rausin L, Misson JP, Menten B, Mortier G, Van Maldergem L, Verloes A, Debray FG. 2010. Temple–Baraitser syndrome: a rare and possibly unrecognized condition. Am J Med Genet Part A 152A:2322–2326.

Autor: Jacquinet, Adeline, Gérard, Marion, Gabbett, Michael T., Rausin, Léon, Misson, JeanPaul, Menten, Björn, Mortier, Geert, Van Maldergem, Lionel, Verloes, Alain, Debray, FrançoisGuillaume

Publikováno v: American Journal of Medical Genetics. Part A; September 2010, Vol. 152 Issue: 9 p2322-2326, 5p

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Autor: Denomme-Pichon A. -S., Bruel A. -L., Duffourd Y., Safraou H., Thauvin-Robinet C., Tran Mau-Them F., Philippe C., Vitobello A., Jean-Marcais N., Moutton S., Thevenon J., Faivre L., Matalonga L., de Boer E., Gilissen C., Hoischen A., Kleefstra T., Pfundt R., de Vries B. B. A., Willemsen M. H., Vissers L. E. L. M., Jackson A., Banka S., Clayton-Smith J., Benetti E., Fallerini C., Renieri A., Ciolfi A., Dallapiccola B., Pizzi S., Radio F. C., Tartaglia M., Ellwanger K., Graessner H., Haack T. B., Zurek B., Havlovicova M., Macek M., Ryba L., Schwarz M., Votypka P., Lopez-Martin E., Posada M., Mencarelli M. A., Rooryck C., Trimouille A., Verloes A., Abbott K. M., Kerstjens M., Martin E. L., Maystadt I., Morleo M., Nigro V., Pinelli M., Riess O., Agathe J. -M. D. S., Santen G. W. E., Thauvin C., Torella A., Vissers L., Zguro K., Boer E. D., Cohen E., Danis D., Gao F., Horvath R., Johari M., Johanson L., Li S., Morsy H., Nelson I., Paramonov I., te Paske I. B. A. W., Robinson P., Savarese M., Steyaert W., Topf A., van der Velde J. K., Vandrovcova J., Ossowski S., Demidov G., Sturm M., Schulze-Hentrich J. M., Schule R., Xu J., Kessler C., Wayand M., Synofzik M., Wilke C., Traschutz A., Schols L., Hengel H., Lerche H., Kegele J., Heutink P., Brunner H., Scheffer H., Hoogerbrugge N., 't Hoen P. A. C., Sablauskas K., de Voer R. M., Kamsteeg E. -J., van de Warrenburg B., van Os N., Paske I. T., Janssen E., Steehouwer M., Yaldiz B., Brookes A. J., Veal C., Gibson S., Maddi V., Mehtarizadeh M., Riaz U., Warren G., Dizjikan F. Y., Shorter T., Straub V., Bettolo C. M., Manera J. D., Hambleton S., Engelhardt K., Alexander E., Peyron C., Pelissier A., Beltran S., Gut I. G., Laurie S., Piscia D., Papakonstantinou A., Bullich G., Corvo A., Fernandez-Callejo M., Hernandez C., Pico D., Lochmuller H., Gumus G., Bros-Facer V., Rath A., Hanauer M., Lagorce D., Hongnat O., Chahdil M., Lebreton E., Stevanin G., Durr A., Davoine C. -S., Guillot-Noel L., Heinzmann A., Coarelli G., Bonne G., Evangelista T., Allamand V., Ben Yaou R., Metay C., Eymard B., Atalaia A., Stojkovic T., Turnovec M., Thomasova D., Kremlikova R. P., Frankova V., Liskova P., Dolezalova P., Parkinson H., Keane T., Freeberg M., Thomas C., Spalding D., Robert G., Costa A., Patch C., Hanna M., Houlden H., Reilly M., Efthymiou S., Cali E., Magrinelli F., Sisodiya S. M., Rohrer J., Muntoni F., Zaharieva I., Sarkozy A., Timmerman V., Baets J., de Vries G., De Winter J., Beijer D., de Jonghe P., Van de Vondel L., De Ridder W., Weckhuysen S., Mutarelli M., Varavallo A., Banfi S., Musacchia F., Piluso G., Ferlini A., Selvatici R., Gualandi F., Bigoni S., Rossi R., Neri M., Aretz S., Spier I., Sommer A. K., Peters S., Oliveira C., Pelaez J. G., Matos A. R., Jose C. S., Ferreira M., Gullo I., Fernandes S., Garrido L., Ferreira P., Carneiro F., Swertz M. A., Johansson L., van der Vries G., Neerincx P. B., Ruvolo D., Kerstjens Frederikse W. S., Zonneveld-Huijssoon E., Roelofs-Prins D., van Gijn M., Kohler S., Metcalfe A., Drunat S., Heron D., Mignot C., Keren B., Lacombe D., Capella G., Valle L., Holinski-Feder E., Laner A., Steinke-Lange V., Cilio M. -R., Carpancea E., Depondt C., Lederer D., Sznajer Y., Duerinckx S., Mary S., Macaya A., Cazurro-Gutierrez A., Perez-Duenas B., Munell F., Jarava C. F., Maso L. B., Marce-Grau A., Colobran R., Hackman P., Udd B., Hemelsoet D., Dermaut B., Schuermans N., Poppe B., Verdin H., Osorio A. N., Depienne C., Roos A., Cordts I., Deschauer M., Striano P., Zara F., Riva A., Iacomino M., Uva P., Scala M., Scudieri P., Basak A. N., Claeys K., Boztug K., Haimel M., W. E G., Ruivenkamp C. A. L., Natera de Benito D., Thompson R., Polavarapu K., Grimbacher B., Zaganas I., Kokosali E., Lambros M., Evangeliou A., Spilioti M., Kapaki E., Bourbouli M., Balicza P., Molnar M. J., De la Paz M. P., Sanchez E. B., Delgado B. M., Alonso Garcia de la Rosa F. J., Schrock E., Rump A., Mei D., Vetro A., Balestrini S., Guerrini R., Chinnery P. F., Ratnaike T., Schon K., Maver A., Peterlin B., Munchau A., Lohmann K., Herzog R., Pauly M., May P., Beeson D., Cossins J., Furini S., Afenjar A., Goldenberg A., Masurel A., Phan A., Dieux-Coeslier A., Fargeot A., Guerrot A. -M., Toutain A., Molin A., Sorlin A., Putoux A., Jouret B., Laudier B., Demeer B., Doray B., Bonniaud B., Isidor B., Gilbert-Dussardier B., Leheup B., Reversade B., Paul C., Vincent-Delorme C., Neiva C., Poirsier C., Quelin C., Chiaverini C., Coubes C., Francannet C., Colson C., Desplantes C., Wells C., Goizet C., Sanlaville D., Amram D., Lehalle D., Genevieve D., Gaillard D., Zivi E., Sarrazin E., Steichen E., Schaefer E., Lacaze E., Jacquemin E., Bongers E., Kilic E., Colin E., Giuliano F., Prieur F., Laffargue F., Morice-Picard F., Petit F., Cartault F., Feillet F., Baujat G., Morin G., Diene G., Journel H., Perthus I., Lespinasse J., Alessandri J. -L., Amiel J., Martinovic J., Delanne J., Albuisson J., Lambert L., Perrin L., Ousager L. B., Van Maldergem L., Pinson L., Ruaud L., Samimi M., Bournez M., Bonnet-Dupeyron M. N., Vincent M., Jacquemont M. -L., Cordier-Alex M. -P., Gerard-Blanluet M., Willems M., Spodenkiewicz M., Doco-Fenzy M., Rossi M., Renaud M., Fradin M., Mathieu M., Holder-Espinasse M. H., Houcinat N., Hanna N., Leperrier N., Chassaing N., Philip N., Boute O., Van Kien P. K., Parent P., Bitoun P., Sarda P., Vabres P., Jouk P. -S., Touraine R., El Chehadeh S., Whalen S., Marlin S., Passemard S., Grotto S., Bellanger S. A., Blesson S., Nambot S., Naudion S., Lyonnet S., Odent S., Attie-Bitach T., Busa T., Drouin-Garraud V., Layet V., Bizaoui V., Cusin V., Capri Y., Alembik Y.

Publikováno v: Genetics in Medicine, 25
GENETICS IN MEDICINE
Solve-RD DITF-ITHACA 2023, ' A Solve-RD ClinVar-based reanalysis of 1,522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 25, no. 4, pp. 100018 . https://doi.org/10.1016/j.gim.2023.100018
Genetics in Medicine, 25, 4

Purpose: Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on Clin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::595c5dc88c1376b42f99283c2dea407e
https://doi.org/10.1016/j.gim.2023.100018

Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.

Autor: Peluso F; Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy., Caraffi SG; Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy., Contrò G; Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy., Valeri L; Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy.; Department of Pediatrics, University of Modena and Reggio Emilia Faculty of Medicine and Surgery, Modena, Emilia-Romagna, Italy., Napoli M; Neuroradiology Unit, Azienda USL - IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy., Carboni G; Radiology Unit, Azienda USL - IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy., Seth A; Radiology, Rigshospitalet, Kobenhavn, Denmark., Zuntini R; Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy., Coccia E; Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy., Astrea G; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, Toscana, Italy., Bisgaard AM; Center for Rare Diseases, Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Kobenhavn, Denmark., Ivanovski I; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland., Maitz S; Service of Medical Genetics, IOSI, EOC, Lugano, Switzerland., Brischoux-Boucher E; Hunter Genetics, John Hunter Hospital, New Lambton Heights, New South Wales, Australia., Carter MT; The University of Newcastle, Callaghan, New South Wales, Australia., Dentici ML; Department of Clinical Genetics, Copenhagen University Hospital, Kobenhavn, Denmark., Devriendt K; Department for Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark., Bellini M; Department of Pediatrics, University of Modena and Reggio Emilia, Modena, Italy., Digilio MC; Department of Medical and Surgical Sciences of the Mother, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy., Doja A; The University of Newcastle, Callaghan, New South Wales, Australia., Dyment DA; The University of Newcastle, Callaghan, New South Wales, Australia., Farholt S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Gelderland, Netherlands., Ferreira CR; Medical Genetics Unit, Centro Hospitalar e Universitário de Coimbra EPE, Coimbra, Coimbra, Portugal., Wolfe LA; Medical Genetics Unit, Centro Hospitalar e Universitário de Coimbra EPE, Coimbra, Coimbra, Portugal., Gahl WA; National Human Genome Research Institute, Bethesda, Maryland, USA., Gnazzo M; Translational Cytogenomics Research Unit, Laboratory of Medical Genetics, Bambino Gesu Pediatric Hospital, Roma, Lazio, Italy., Goel H; Hunter Genetics, John Hunter Hospital, New Lambton Heights, New South Wales, Australia.; The University of Newcastle, Callaghan, New South Wales, Australia., Grønborg SW; Center for Rare Diseases, Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Kobenhavn, Denmark.; Department of Clinical Genetics, Copenhagen University Hospital, Kobenhavn, Denmark., Hammer T; Department of Clinical Genetics, Copenhagen University Hospital, Kobenhavn, Denmark.; Department for Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark., Iughetti L; Department of Pediatrics, University of Modena and Reggio Emilia, Modena, Italy.; Department of Medical and Surgical Sciences of the Mother, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Gelderland, Netherlands., Koolen DA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Gelderland, Netherlands., Lepri FR; Translational Cytogenomics Research Unit, Laboratory of Medical Genetics, Bambino Gesu Pediatric Hospital, Roma, Lazio, Italy., Lemire G; Department of Genetics, Children's Hospital of Eastern Ontario (CHEO), Ottawa, Ontario, Canada., Louro P; Medical Genetics Unit, Centro Hospitalar e Universitário de Coimbra EPE, Coimbra, Coimbra, Portugal., McCullagh G; Royal Manchester Children's Hospital and University of Manchester, Royal Manchester Children's Hospital, Manchester, Manchester, UK., Madeo SF; Department of Medical and Surgical Sciences of the Mother, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy., Milone A; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, Toscana, Italy., Milone R; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, Toscana, Italy., Nielsen JEK; Department of Pediatrics, Zealand University Hospital Roskilde, Roskilde, Sjaelland, Denmark., Novelli A; Translational Cytogenomics Research Unit, Laboratory of Medical Genetics, Bambino Gesu Pediatric Hospital, Roma, Lazio, Italy., Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Gelderland, Netherlands., Pascarella R; Neuroradiology Unit, Azienda USL - IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy., Pippucci T; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna Policlinico S Orsola, Bologna, Emilia-Romagna, Italy., Ricca I; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, Toscana, Italy., Robertson SP; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand., Sawyer S; Department of Genetics, Children's Hospital of Eastern Ontario (CHEO), Ottawa, Ontario, Canada., Falkenberg Smeland M; Department of Medical Genetics, University Hospital of North Norway, Tromso, Troms, Norway., Stegmann S; Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht University Medical Centre+, Maastricht, Limburg, Netherlands., Stumpel CT; Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht University Medical Centre+, Maastricht, Limburg, Netherlands., Goel A; University of Newcastle, Callaghan, The University of Newcastle, Callaghan, New South Wales, Australia., Taylor JM; Genetic Health Service - Northern Hub, Genetic Health Service - Northern Hub, Aukland, New Zealand., Barbuti D; Radiology and Bioimaging Unit, Bambino Gesu Pediatric Hospital, Roma, Lazio, Italy., Soresina A; Paediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Ex-perimental Sciences, ASST Spedali Civili di Brescia, Brescia, Lombardia, Italy., Bedeschi MF; Medical Genetic Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Battini R; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, Toscana, Italy.; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Toscana, Italy., Cavalli A; Child Neurology and Psychiatry Unit, Azienda USL - IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy., Fusco C; Child Neurology and Psychiatry Unit, Azienda USL - IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy., Iascone M; Laboratory of Medical Genetics, ASST Papa Giovanni XXIII, Bergamo, Lombardia, Italy., Van Maldergem L; Centre de génétique humaine, Université de Franche-Comté, Centre Hospitalier Universitaire de Besancon, Besancon, France., Venkateswaran S; The University of Newcastle, Callaghan, New South Wales, Australia., Zuffardi O; Department of Molecular Medicine, University of Pavia, Pavia, Lombardia, Italy., Vergano S; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA., Garavelli L; Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy livia.garavelli@ausl.re.it., Bayat A; Department for Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.; Institute for Regional Health Services Research, University of Southern Denmark, Odense, Syddanmark, Denmark.

Publikováno v: Journal of medical genetics [J Med Genet] 2023 Nov 27; Vol. 60 (12), pp. 1224-1234. Date of Electronic Publication: 2023 Nov 27.

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.

Autor: Engel C; Centre de Génétique Humaine, Centre Hospitalier Régional Universitaire, Université de Franche-Comté, Besançon, France. cengel@chu-besancon.fr., Valence S; Service de Neurologie Pédiatrique, Hôpital Armand Trousseau, APHP Sorbonne Université, Paris, France., Delplancq G; Centre de Génétique Humaine, Centre Hospitalier Régional Universitaire, Université de Franche-Comté, Besançon, France., Maroofian R; Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology, University College London, London, UK., Accogli A; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada., Agolini E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Baglioni V; Department of Human Neurosciences, Institute of Child and Adolescent Neuropsychiatry, Sapienza University of Rome, Rome, Italy., Bagnasco I; Division of Neuropsychiatry, Epilepsy Center for Children, Martini Hospital, 10141, Turin, Italy., Becmeur-Lefebvre M; Service de Génétique Clinique, CHR d'Orléans, Orléans, France., Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital IRCCS, Rome, Italy., Borggraefe I; Department of Pediatric Neurology, Developmental Medicine and Social Pediatrics, University of Munich, 80337, Munich, Germany., Brischoux-Boucher E; Centre de Génétique Humaine, Centre Hospitalier Régional Universitaire, Université de Franche-Comté, Besançon, France., Bruel AL; UMR 1231 GAD, Inserm, Université de Bourgogne Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Brusco A; Department of Medical Sciences, University of Torino, 10126, Turin, Italy., Bubshait DK; Department of Pediatrics, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia., Cabrol C; Centre de Génétique Humaine, Centre Hospitalier Régional Universitaire, Université de Franche-Comté, Besançon, France., Cilio MR; Department of Pediatrics, Division of Pediatric Neurology Saint-Luc University Hospital, and Institute of Neuroscience (IoNS), Catholic University of Louvain, Brussels, Belgium., Cornet MC; Department of Pediatrics, Division of Neonatology, University of California San Francisco, San Francisco, CA, USA., Coubes C; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHU de Montpellier, Montpellier, France., Danhaive O; Division of Neonatology, Saint-Luc university Hospital, and Institut of Clinical and Experimental Research (IREC), Bruxelles, Belgium., Delague V; Aix Marseille Univ, INSERM, Marseille Medical Genetics Center, MMG, Marseille, France., Denommé-Pichon AS; UMR 1231 GAD, Inserm, Université de Bourgogne Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Di Giacomo MC; Medical Genetics Service and Laboratory of Cytogenetics, SIC Anatomia Patologica, 'San Carlo' Hospital, 85100, Potenza, Italy., Doco-Fenzy M; CHU Reims, Service de Génétique, Reims, France.; CHU de Nantes, service de génétique médicale, Nantes, France.; L'institut du thorax, INSERM, UNIV Nantes, Nantes, France., Engels H; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany., Cremer K; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany., Gérard M; Clinical Genetics, Côte de Nacre University Hospital Center, Caen, France., Gleeson JG; University of California San Diego, Department of Neurosciences, Rady Children's Institute for Genomic Medicine, San Diego, CA, 92037, USA., Heron D; Department of Genetics, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, Paris, France., Goffeney J; Service de neuropédiatrie, Centre Hospitalier Régional Universitaire, Université de Franche-Comté, Besançon, France., Guimier A; Service de Médecine Génomique des Maladies Rares, Hôpital Necker Enfants Malades, Institut Imagine et Université Paris-Cité, Paris, France., Harms FL; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Houlden H; Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology, University College London, London, UK., Iacomino M; Unit of Medical Genetics, IRCCS Instituto Giannina Gaslini, Genova, Italy., Kaiyrzhanov R; Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology, University College London, London, UK., Kamien B; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA, 6008, Australia., Karimiani EG; Department of Molecular Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London, SW17 0RE, UK., Kraus D; Department of Neurology, Schneider Children's Medical Center of Israel, Petah Tiqva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, 6997801, Israel., Kuentz P; UMR 1231 GAD, Inserm, Université de Bourgogne Franche Comté, Dijon, France.; Oncobiologie Génétique Bioinformatique, PCBio, CHU Besançon, Besançon, France., Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Lederer D; Institute for Pathology and Genetics, 6040, Gosselies, Belgium., Massingham L; Division of Medical Genetics, Department of Pediatrics, Hasbro Children's Hospital, Providence, RI, USA., Mignot C; APHP, Sorbonne Université, Département de Génétique, Paris, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, GH Pitié-Salpêtrière/Hôpital Armand Trousseau, Paris, France., Morris-Rosendahl D; Clinical Genetics and Genomics, Royal Brompton and Harefield NHS Foundation Trust, London, UK.; NHLI, Imperial College London, London, UK., Nagarajan L; Department of Neurology, Perth Children's Hospital, Nedlands, WA, Australia.; University of Western Australia, Nedlands, WA, Australia., Odent S; Service de Génétique Clinique, Centre Référence 'Déficiences Intellectuelles de causes rares' (CRDI), Centre Référence Anomalies du développement (CLAD-Ouest), CHU Rennes, Univ Rennes, Rennes, France., Ormières C; Service de Médecine Génomique des Maladies Rares, Hôpital Necker Enfants Malades, Institut Imagine et Université Paris-Cité, Paris, France., Partlow JN; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA., Pasquier L; Service de Génétique Clinique, Centre Référence 'Déficiences Intellectuelles de causes rares' (CRDI), Centre Référence Anomalies du développement (CLAD-Ouest), CHU Rennes, Univ Rennes, Rennes, France., Penney L; Department of Pediatrics, IWK Health Centre, Dalhousie University, Halifax, NS, Canada., Philippe C; UMR 1231 GAD, Inserm, Université de Bourgogne Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Piccolo G; UOSD Neuro-oncology, IRCCS Giannina Gaslini, Genova, Italy., Poulton C; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA, 6008, Australia., Putoux A; Hospices Civils de Lyon, Service de Génétique, Bron, France.; Équipe GENDEV, Centre de Recherche en Neurosciences de Lyon, INSERM U1028 CNRS UMR5292, Université Claude Bernard Lyon 1, Lyon, France., Rio M; Service de Médecine Génomique des Maladies Rares, Hôpital Necker Enfants Malades, Institut Imagine et Université Paris-Cité, Paris, France., Rougeot C; Hôpital Femme Mère Enfant, Service de Neuropédiatrie, Bron, France., Salpietro V; Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology, University College London, London, UK.; IRCCS Giannina Gaslini Institute, Genova, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy., Scheffer I; Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, VIC, Australia.; Royal Children's Hospital, Florey Institute and Murdoch Children's Research Institute, Melbourne, VIC, Australia., Schneider A; Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, VIC, Australia., Srivastava S; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Straussberg R; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, 6997801, Israel., Striano P; IRCCS Giannina Gaslini Institute, Genova, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy., Valente EM; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy., Venot P; Neonatal Intensive Care Unit, Institut Alix de Champagne, Reims, France., Villard L; Aix Marseille Univ, INSERM, Marseille Medical Genetics Center, MMG, Marseille, France.; Département de Génétique Médicale, AP-HM, Hôpital d'Enfants de La Timone, Marseille, France., Vitobello A; UMR 1231 GAD, Inserm, Université de Bourgogne Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Wagner J; Department of Pediatric Neurology, Developmental Medicine and Social Pediatrics, University of Munich, 80337, Munich, Germany., Wagner M; Department of Pediatric Neurology, Developmental Medicine and Social Pediatrics, University of Munich, 80337, Munich, Germany.; Institute for Neurogenomics, Helmholtz Center Munich, Neuherberg, Germany.; Institute of Human Genetics, School of Medicine, Technical University Munich, Munich, Germany., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Zara F; IRCCS Giannina Gaslini Institute, Genova, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy., Lesca G; Hospices Civils de Lyon, Service de Génétique, Bron, France.; 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Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2023 Sep; Vol. 31 (9), pp. 1023-1031. Date of Electronic Publication: 2023 Jun 21.

MG132 induces progerin clearance and improves disease phenotypes in fibroblasts of patients affected with Hutchinson-Gilford Progeria-like syndromes

Autor: De Sandre-Giovannoli A, Karim Harhouri, Nicolas Lévy, Mawuse Gk, Van Maldergem L, Pierre Cau, Casey F, Yassamine Doubaj, Mejia-Baltodano G

Progeroid Syndromes (PS), including Hutchinson-Gilford Progeria Syndrome (HGPS, OMIM #176670), are premature and accelerated aging that clinically resemble some aspects of advancing physiological aging. Most classical HGPS patients carry a de novo po

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f21267cf649bdabeb4f9cf4ee6a92326
https://doi.org/10.1101/2021.04.14.439612