المؤلفون: Dyment, D. A. (David A.), O'Donnell-Luria, A. (Anne), Agrawal, P. B. (Pankaj B.), Coban Akdemir, Z. (Zeynep), Aleck, K. A. (Kyrieckos A.), Antaki, D. (Danny), Al Sharhan, H. (Hind), Au, P. B. (Ping-Yee B.), Aydin, H. (Hatip), Beggs, A. H. (Alan H.), Bilguvar, K. (Kaya), Boerwinkle, E. (Eric), Brand, H. (Harrison), Brownstein, C. A. (Catherine A.), Buyske, S. (Steve), Chodirker, B. (Bernard), Choi, J. (Jungmin), Chudley, A. E. (Albert E.), Clericuzio, C. L. (Carol L.), Cox, G. F. (Gerald F.), Curry, C. (Cynthia), De Boer, E. (Elke), De Vries, B. B. (Bert B. A.), Dunn, K. (Kathryn), Dutmer, C. M. (Cullen M.), England, E. M. (Eleina M.), Fahrner, J. A. (Jill A.), Geckinli, B. B. (Bilgen B.), Genetti, C. A. (Casie A.), Gezdirici, A. (Alper), Gibson, W. T. (William T.), Gleeson, J. G. (Joseph G.), Greenberg, C. R. (Cheryl R.), Hall, A. (April), Hamosh, A. (Ada), Hartley, T. (Taila), Jhangiani, S. N. (Shalini N.), Karaca, E. (Ender), Kernohan, K. (Kristin), Lauzon, J. L. (Julie L.), Lewis, M. E. (M. E. Suzanne), Lowry, R. B. (R. Brian), López-Giráldez, F. (Francesc), Matise, T. C. (Tara C.), McEvoy-Venneri, J. (Jennifer), McInnes, B. (Brenda), Mhanni, A. (Aziz), Garcia Minaur, S. (Sixto), Moilanen, J. (Jukka), Nguyen, A. (An), Nowaczyk, M. J. (Malgorzata J. M.), Posey, J. E. (Jennifer E.), Õunap, K. (Katrin), Pehlivan, D. (Davut), Pajusalu, S. (Sander), Penney, L. S. (Lynette S.), Poterba, T. (Timothy), Prontera, P. (Paolo), Rodovalho Doriqui, M. J. (Maria Juliana), Sawyer, S. L. (Sarah L.), Sobreira, N. (Nara), Stanley, V. (Valentina), Torun, D. (Deniz), Wargowski, D. (David), Witmer, P. D. (P. Dane), Wong, I. (Isaac), Xing, J. (Jinchuan), Zaki, M. S. (Maha S.), Zhang, Y. (Yeting), C. C. (Care4Rare Consortium), C. F. (Centers For Mendelian Genomics), Boycott, K. M. (Kym M.), Bamshad, M. J. (Michael J.), Nickerson, D. A. (Deborah A.), Blue, E. E. (Elizabeth E.), Innes, A. M. (A. Micheil)

مصطلحات الفهرس: Dubowitz syndrome, exome sequencing, genetic heterogeneity, genome sequencing, microarray, info:eu-repo/semantics/article, info:eu-repo/semantics/acceptedVersion

URL: http://urn.fi/urn:nbn:fi-fe202301235225

المؤلفون: Duncan, A.R. (Anna R.), Vitobello, A. (Antonio), Collins, S.C. (Stephan C.), Vancollie, V.E. (Valerie E.), Lelliott, C.J. (Christopher J.), Rodan, L. (Lance), Shi, J. (Jiahai), Seman, A.R. (Ann R.), Agolini, E. (Emanuele), Novelli, A. (Antonio), Prontera, P. (Paolo), Guillen Sacoto, M.J. (Maria J.), Santiago-Sim, T. (Teresa), Trimouille, A. (Aurélien), Goizet, C. (Cyril), Nizon, M. (Mathilde), Bruel, A.-L. (Ange-Line), Philippe, C. (Christophe), Grant, P.E. (Patricia E.), Wojcik, M.H. (Monica H.), Stoler, J. (Joan), Genetti, C.A. (Casie A.), Dooren, M.F. (Marieke) van, Maas, S.M. (Saskia), Alders, M. (Mariëlle), Faivre, L. (Laurence), Sorlin, A. (Arthur), Yoon, G. (Grace), Yalcin, B. (Binnaz), Agrawal, P.B. (Pankaj B.)

مصطلحات الفهرس: agenesis of the corpus callosum, dysmorphic hippocampi, global developmental delay, heterozygous variant, intellectual disability, JMJD2B, KDM4B, neurodevelopmental disorder, info:eu-repo/semantics/article

URL: http://repub.eur.nl/pub/132482

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المؤلفون: Dell'Isola GB; Department of Pediatrics, University of Perugia, Perugia, Italy., Antonella F; Department of Pediatrics, University of Perugia, Perugia, Italy. antonella.fattorusso@ospedale.perugia.it., Francesco P; Child Neurology and Psychiatry Unit, Department of Human Neurosciences, Sapienza University of Rome, 00185, Rome, Italy.; Department of Neuroscience/Mental Health, Azienda Ospedaliero-Universitaria Policlinico Umberto I, 00161, Rome, Italy., Mario M; Child Neurology and Psychiatry Unit, Department of Human Neurosciences, Sapienza University of Rome, 00185, Rome, Italy.; Child Neurology Unit, University of Bologna, Bologna, Italy., Cordelli DM; Child Neurology Unit, University of Bologna, Bologna, Italy., Piero P; Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy., Pasquale P; Pediatrics Unit, Neuroscience, Mental Health and Sense Organs (NESMOS) Department, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189, Rome, Italy., Alessandro F; Pediatrics Unit, Neuroscience, Mental Health and Sense Organs (NESMOS) Department, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189, Rome, Italy., Operto FF; Child and Adolescent Neuropsychiatry Unit, Department of Medicine, Surgery and Dentistry, University of Salerno, Salerno, Italy.; Department of Science of Health, School of Medicine, University Magna Graecia of Catanzaro, Catanzaro, Italy., Maurizio E; Unit of Neurology and Clinical Neurophysiopathology, Oasi Research Institute-IRCCS, Troina, Italy., Marco C; Clinic of Child and Adolescent Neuropsychiatry, Department of Mental Health, Physical and Preventive Medicine, Università degli studi della Campania 'Luigi Vanvitelli', Naples, Italy., Dario P; Child Neurology and Epileptology Unit, Paediatric Department, ARNAS Brotzu, Cagliari, Italy., Sara M; Department of Pediatrics, University of Chieti, Chieti, Italy., Elisabetta S; Pediatric Neurology, Azienda Policlinico Modena, Modena, Italy., Alberto S; Department of Pediatrics, 'Sapienza' University of Rome, Rome, Italy., Giovanna S; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, L'Aquila, Italy., Savasta S; Pediatric Clinic and Rare Diseases, Microcythemic Pediatric Hospital 'A. Cao', University of Cagliari, Cagliari, Italy., Paolo P; Medical Genetics Unit, Hospital Santa Maria Della Misericordia, Perugia, Italy., Di Cara G; Department of Pediatrics, University of Perugia, Perugia, Italy., Fruttini D; Department of Medicine and Surgery, University of Perugia, Perugia, Italy., Vincenzo S; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, L'Aquila, Italy.; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK., Pasquale S; Giannina Gaslini Institute, Scientific Institute for Research and Health Care, Genoa, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy., Alberto V; Department of Pediatrics, University of Perugia, Perugia, Italy.

المصدر: Journal of neurology [J Neurol] 2024 Aug; Vol. 271 (8), pp. 5368-5377. Date of Electronic Publication: 2024 Jun 14.

نوع المنشور: Journal Article; Multicenter Study; Observational Study

بيانات الدورية: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Neurodevelopmental Disorders*/genetics , Neurodevelopmental Disorders*/epidemiology, Humans ; Male ; Italy ; Female ; Child, Preschool ; Cohort Studies ; Infant ; Child ; Epileptic Syndromes/genetics ; Epileptic Syndromes/physiopathology ; Protein Serine-Threonine Kinases/genetics ; Adolescent ; Spasms, Infantile

SCR Disease Name: CDKL5 deficiency disorder