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المؤلفون: Sébastien Küry, Frédéric Ebstein, Alice Mollé, Thomas Besnard, Ming-Kang Lee, Virginie Vignard, Tiphaine Hery, Mathilde Nizon, Grazia M.S. Mancini, Jacques C. Giltay, Benjamin Cogné, Kirsty McWalter, Wallid Deb, Hagar Mor-Shaked, Hong Li, Rhonda E. Schnur, Ingrid M. Wentzensen, Anne-Sophie Denommé-Pichon, Cynthia Fourgeux, Frans W. Verheijen, Eva Faurie, Rachel Schot, Cathy A. Stevens, Daphne J. Smits, Eileen Barr, Ruth Sheffer, Jonathan A. Bernstein, Chandler L. Stimach, Eliana Kovitch, Vandana Shashi, Kelly Schoch, Whitney Smith, Richard H. van Jaarsveld, Anna C.E. Hurst, Kirstin Smith, Evan H. Baugh, Suzanne G. Bohm, Emílie Vyhnálková, Lukáš Ryba, Capucine Delnatte, Juanita Neira, Dominique Bonneau, Annick Toutain, Jill A. Rosenfeld, Séverine Audebert-Bellanger, Brigitte Gilbert-Dussardier, Sylvie Odent, Frédéric Laumonnier, Seth I. Berger, Ann C.M. Smith, Franck Bourdeaut, Marc-Henri Stern, Richard Redon, Elke Krüger, Raphaël Margueron, Stéphane Bézieau, Jeremie Poschmann, Bertrand Isidor
المساهمون: Centre hospitalier universitaire de Nantes (CHU Nantes), unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Nantes Université - UFR de Médecine et des Techniques Médicales (Nantes Univ - UFR MEDECINE), Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ)-Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ), Universität Greifswald - University of Greifswald, Centre de Recherche en Transplantation et Immunologie - Center for Research in Transplantation and Translational Immunology (U1064 Inserm - CR2TI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Nantes Université - UFR de Médecine et des Techniques Médicales (Nantes Univ - UFR MEDECINE), Génétique et Biologie du Développement, Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Erasmus University Medical Center [Rotterdam] (Erasmus MC), University Medical Center [Utrecht], GeneDx [Gaithersburg, MD, USA], Hadassah Hebrew University Medical Center [Jerusalem], Emory University School of Medicine, Emory University [Atlanta, GA], Laboratoire de Biologie Neurovasculaire Intégrée [Angers] (CNRS UMR6214 - INSERM U771), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Faculté de Médecine d'Angers, MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), University of Tennessee System, Stanford University, Duke University Medical Center, University of Alabama at Birmingham [ Birmingham] (UAB), Columbia University [New York], Charles University [Prague] (CU), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Baylor College of Medicine (BCM), Baylor University, Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Unité neurovasculaire et troubles cognitifs (Neuvacod), Université de Poitiers, CHU Pontchaillou [Rennes], Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Centre de référence Maladies Rares CLAD-Ouest [Rennes], Children's National Medical Center, National Human Genome Research Institute (NHGRI), Institut Curie [Paris], Unité de génétique et biologie des cancers (U830), Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Greifswald University Hospital, Research reported in this manuscript was supported by the NIH Common Fund through the Office of Strategic Coordination/Office of the NIH Director under award number U01HG007672 to V.S. Further support was obtained by funding from the German Research Foundation (SFBTR 167 A4, GRK2719 B4) to E.K, Clinical Genetics
المصدر: American Journal of Human Genetics
American Journal of Human Genetics, 2022, 109 (2), pp.361-372. ⟨10.1016/j.ajhg.2021.12.011⟩
American Journal of Human Genetics, 109(2), 361-372. Cell Press
Am J Hum Genetمصطلحات موضوعية: Male, Heterozygote, Proteasome Endopeptidase Complex, tumor, Adolescent, T-Lymphocytes, Ubiquitin-Protein Ligases, [SDV]Life Sciences [q-bio], Mutation, Missense, UPS, ubiquitin-proteasome system, chromatin remodeling, Histones, SDG 3 - Good Health and Well-being, Loss of Function Mutation, Report, ubiquitin, Genetics, Humans, cancer, Family, BAP1, Child, deubiquitination, Germ-Line Mutation, Genetics (clinical), [SDV.GEN]Life Sciences [q-bio]/Genetics, neurodevelopment, BRCA1 Protein, Tumor Suppressor Proteins, Ubiquitination, Infant, Chromatin Assembly and Disassembly, BRCA1, Chromatin, Gene Expression Regulation, Neurodevelopmental Disorders, intellectual disability, Child, Preschool, histone 2A, Female, Host Cell Factor C1, Ubiquitin Thiolesterase
وصف الملف: application/pdf
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المؤلفون: Paul R. Mark, Katherine A. Bosanko, Vikas Bhambhani, Steven Sparagana, Laurie S. Sadler, Aisling R. Caffrey, Sixto García-Miñaur, Marilyn C. Jones, Douglas M. Smith, Andrea H. Seeley, Ann Oostra, Donna M. Martin, Marieke F. van Dooren, Melissa Lees, Melanie A. Manning, Meena Balasubramanian, Adeline Vanderver, Valeria Orlando, Maria Lisa Dentici, Ariel Brautbar, Elizabeth Roeder, Dorothy K. Grange, Jennifer L. Fish, Ralitza H. Gavrilova, Lot Snijders Blok, Jane Maclean, Marcelo Vargas, Suzanne I. M. Alsters, Daniela Melis, Lesley Turner, Eliana Kovitch, Yuri A. Zarate, Sakkubai Naidu, Lucía Spangenberg, Jonathan A. Bernstein, Elizabeth Berry-Kravis, Mark H. Lipson, Hilde Van Esch, Maria Schwab, Víctor Raggio, Timothy James Maarup, Marc S. Williams, Jean P. Pfotenhauer, Rebecca O. Littlejohn, Bert Callewaert, Adnan Alsadah, Antonio Martinez-Monseny, Juvianee I. Estrada-Veras
المساهمون: Human genetics, Clinical Genetics
المصدر: Zarate, Y A, Bosanko, K A, Caffrey, A R, Bernstein, J A, Martin, D M, Williams, M S, Berry-Kravis, E M, Mark, P R, Manning, M A, Bhambhani, V, Vargas, M, Seeley, A H, Estrada-Veras, J I, van Dooren, M F, Schwab, M, Vanderver, A, Melis, D, Alsadah, A, Sadler, L, Van Esch, H, Callewaert, B, Oostra, A, Maclean, J, Dentici, M L, Orlando, V, Lipson, M, Sparagana, S P, Maarup, T J, Alsters, S I M, Brautbar, A, Kovitch, E, Naidu, S, Lees, M, Smith, D M, Turner, L, Raggio, V, Spangenberg, L, Garcia-Miñaúr, S, Roeder, E R, Littlejohn, R O, Grange, D, Pfotenhauer, J, Jones, M C, Balasubramanian, M, Martinez-Monseny, A, Blok, L S, Gavrilova, R & Fish, J L 2019, ' Mutation update for the SATB2 gene ', Human Mutation, vol. 40, no. 8, pp. 1013-1029 . https://doi.org/10.1002/humu.23771
HUMAN MUTATION
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Human Mutation, 40, 8, pp. 1013-1029
Human Mutation, 40(8), 1013-1029. Wiley-Liss Inc.
Human Mutation, 40, 1013-1029مصطلحات موضوعية: Premature Stop Codon, Male, Adolescent, genotype-phenotype correlation, Mutation, Missense, Biology, medicine.disease_cause, Polymorphism, Single Nucleotide, 03 medical and health sciences, whole exome sequencing, Neurodevelopmental disorder, All institutes and research themes of the Radboud University Medical Center, SATB2-associated syndrome, Genetics, medicine, Missense mutation, Coding region, Animals, Humans, Child, Gene, Genetics (clinical), Exome sequencing, Genetic Association Studies, 030304 developmental biology, Gene Rearrangement, 0303 health sciences, Mutation, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], 030305 genetics & heredity, SATB2, Matrix Attachment Region Binding Proteins, medicine.disease, Phenotype, pathogenic variants, Disease Models, Animal, Neurodevelopmental Disorders, Child, Preschool, Codon, Terminator, Female, Transcription Factors
وصف الملف: application/pdf
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المؤلفون: Escoffery, Cam, McGee, Robin, Bidwell, Jonathan, Sims, Christopher, Thropp, Eliana Kovitch, Frazier, Cherise, Mynatt, Elizabeth D.
المساهمون: Centers for Disease Control and Prevention
المصدر: Epilepsy & Behavior ; volume 81, page 62-69 ; ISSN 1525-5050
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المؤلفون: Cam Escoffery, Robin E. McGee, Cherise Frazier, Elizabeth D. Mynatt, Eliana Kovitch Thropp, Christopher Sims, Jonathan Bidwell
المصدر: Epilepsybehavior : EB. 81
مصطلحات موضوعية: 020205 medical informatics, Internet privacy, 02 engineering and technology, App store, 03 medical and health sciences, Behavioral Neuroscience, Epilepsy, 0302 clinical medicine, Rating scale, Seizures, mental disorders, 0202 electrical engineering, electronic engineering, information engineering, medicine, Humans, Self-management, business.industry, Self-Management, Behavior change methods, medicine.disease, Mobile Applications, Self Care, Health promotion, Neurology, Patient Satisfaction, Chronic Disease, Neurology (clinical), Psychology, business, Inclusion (education), 030217 neurology & neurosurgery, Patient education
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المؤلفون: Simone Tognetti, Chiara Caborni, Rosalind W. Picard, Tobias Loddenkemper, Andrew S. Blum, Matteo Migliorini, Elizabeth D. Mynatt, Ming-Zher Poh, Daniel Friedman, Claus Reinsberger, Jonathan Bidwell, Roberto Mai, Giulia Regalia, W. Curt LaFrance, Eliana Kovitch Thropp, Francesco Onorati, Daniel Bender, Cherise Frazier, Fatemeh Mohammadpour-Touserkani
المصدر: Epilepsia. 58(11)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Adolescent, Wearable computer, Monitoring, Ambulatory, Audiology, Electroencephalography, Convulsive seizure, 03 medical and health sciences, Epilepsy, Young Adult, 0302 clinical medicine, Seizures, medicine, Humans, Child, Retrospective Studies, medicine.diagnostic_test, Detector, Middle Aged, Wrist, medicine.disease, 030104 developmental biology, Convulsive Seizures, Neurology, Anesthesia, Child, Preschool, Ambulatory, Female, Neurology (clinical), False alarm, Psychology, 030217 neurology & neurosurgery