المؤلفون: Tangeraas, Trine, Constante, Juliana R, Backe, Paul Hoff, Oyarzábal, Alfonso, Neugebauer, Julia, Weinhold, Natalie, Boemer, François, Debray, François-Guillaume, Ozturk-Hism, Burcu, Evren, Gumus, Tuba, Eminoglu F, Ummuhan, Oncul, Footitt, Emma, Davison, James, Martinez, Caroline, Bueno, Clarissa, Machado, Irene, Rodríguez-Pombo, Pilar, Al-Sannaa, Nouriya, De Los Santos, Mariela, López, Jordi Muchart, Ozturkmen-Akay, Hatice, Karaca, Meryem, Tekin, Mustafa, Pajares, Sonia, Ormazabal, Aida, Stoway, Stephanie D, Artuch, Rafael, Dixon, Marjorie, Mørkrid, Lars, García-Cazorla, Angeles

المصدر: Brain: a Journal of Neurology, 146 (7), 3003 - 3013 (2023-07-03)

مصطلحات موضوعية: BCKDK, autism spectrum disorder, intellectual disability, microcephaly, newborn screening, Glia Maturation Factor, Amino Acids, Branched-Chain, Infant, Newborn, Humans, Female, Infant, Male, Neonatal Screening, Cross-Sectional Studies, Amino Acids, Branched-Chain/metabolism, Intellectual Disability/genetics, Autism Spectrum Disorder/diagnosis, Autism Spectrum Disorder/genetics, Microcephaly/genetics, Neurology (clinical), Human health sciences, Pediatrics, Sciences de la santé humaine, Pédiatrie

Relation: https://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awad010/49604443/awad010.pdf; urn:issn:0006-8950; urn:issn:1460-2156

URL الوصول: https://orbi.uliege.be/handle/2268/308679

المؤلفون: Ruaud, Lyse, Drunat, Séverine, Elmaleh-Bergès, Monique, Ernault, Anais, Guilmin Crepon, Sophie, MCPH Consortium, El Ghouzzi, Vincent, Auvin, Stéphane, Verloes, Alain, Passemard, Sandrine, Servais, Laurent, VAESSEN, Sandrine

المصدر: Developmental Medicine and Child Neurology, 64 (4), 509-517 (2022-04)

مصطلحات موضوعية: Cell Cycle Proteins, Nerve Tissue Proteins, WDR62 protein, human, Adolescent, Ataxia, Child, Child, Preschool, Female, Humans, Male, Young Adult, Cell Cycle Proteins/genetics, Intellectual Disability/diagnosis, Intellectual Disability/genetics, Microcephaly/diagnosis, Microcephaly/genetics, Nerve Tissue Proteins/genetics, Intellectual Disability, Microcephaly, Pediatrics, Perinatology and Child Health, Developmental Neuroscience, Neurology (clinical), Human health sciences, Neurology, Pediatrics, Sciences de la santé humaine, Neurologie, Pédiatrie

Relation: https://onlinelibrary.wiley.com/doi/pdf/10.1111/dmcn.15060; urn:issn:0012-1622; urn:issn:1469-8749

URL الوصول: https://orbi.uliege.be/handle/2268/300076

المؤلفون: Stefano Giuseppe Caraffi, Marzia Pollazzon, Muhammad Farooq, Ambrin Fatima, Lars Allan Larsen, Roberta Zuntini, Manuela Napoli, Livia Garavelli

المصدر: Caraffi, S G, Pollazzon, M, Farooq, M, Fatima, A, Larsen, L A, Zuntini, R, Napoli, M & Garavelli, L 2022, ' MCPH1 : A Novel Case Report and a Review of the Literature ', Genes, vol. 13, no. 4, 634 . https://doi.org/10.3390/genes13040634

مصطلحات موضوعية: Cell Cycle Proteins/genetics, Cytoskeletal Proteins, Microcephaly/genetics, Intellectual Disability, Homozygote, Genetics, Microcephaly, Humans, Cell Cycle Proteins, Cytoskeletal Proteins/genetics, Genetics (clinical), Intellectual Disability/genetics, Sequence Deletion

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a7843b0c99db32cfe187b1d38ef0331
https://curis.ku.dk/portal/da/publications/mcph1(e1072d3c-761a-4456-8c8d-833bee02e9a4).html

المؤلفون: Belinda Campos-Xavier, Noriko Miyake, Andrea Superti-Furga, Gabriela Ferraz Leal, Mathieu Quinodoz, Sérgio B. Sousa, Elizabeth C. Engle, Virginie G. Peter, Silvio Alessandro Di Gioia, Naomichi Matsumoto, Jorge Pinto-Basto, Carlo Rivolta, Sheila Unger, Frederic Shapiro, Rosanna Pescini Gobert, Eduardo D. Silva, Gabriela Soares

المصدر: Genetics in Medicine
Genetics in medicine, vol. 21, no. 12, pp. 2734-2743

مصطلحات موضوعية: Male, Retinal degeneration, Microcephaly, Carboxy-Lyases, skeletal dysplasia, Exon, 0302 clinical medicine, Genotype, Exome, Genetics (clinical), Sanger sequencing, Genetics, 0303 health sciences, Retinal Degeneration, Syndrome, Pedigree, 3. Good health, Phenotype, symbols, Female, Sensorineural hearing loss, medicine.symptom, Brazil, Adult, Adolescent, Hearing Loss, Sensorineural, phospholipid metabolism, Osteochondrodysplasias, Short stature, Article, Young Adult, 03 medical and health sciences, symbols.namesake, Intellectual Disability, medicine, Humans, 030304 developmental biology, Carboxy-Lyases/genetics, Carboxy-Lyases/metabolism, Exome/genetics, HEK293 Cells, Hearing Loss, Sensorineural/genetics, Intellectual Disability/genetics, Microcephaly/genetics, Musculoskeletal Abnormalities/genetics, Osteochondrodysplasias/genetics, Portugal, Retinal Degeneration/genetics, Liberfarb syndrome, PISD, retinal degeneration, business.industry, medicine.disease, Musculoskeletal Abnormalities, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e920781a864ddd0dd5e644573d533de
https://doi.org/10.1038/s41436-019-0595-x

المؤلفون: Cindy Badoer, Alain Verloes, Valérie Jacquemin, Camille Perazzolo, Marc Abramowicz, Judith Racapé, Isabelle Pirson, Marianne Rooman, Tom Lenaerts, Julie Soblet, Séverine Drunat, Sabine Costagliola, Frédérick Libert, Anne Lefort, Sarah Duerinckx, Sandrine Passemard, Laurence Desmyter, Viviane De Maertelaer, Yoann Vial, Annick Massart, Sofia Papadimitriou, Yann-Aël Le Borgne

المساهمون: Faculty of Sciences and Bioengineering Sciences, Electronics and Informatics, IR Academic Unit, Informatics and Applied Informatics, Artificial Intelligence

المصدر: Human mutation, vol. 41, no. 2, pp. 512-524
Human Mutation

مصطلحات موضوعية: Primary microcephaly, Inheritance Patterns, Biology, digenic inheritance, ASPM, 03 medical and health sciences, Open Reading Frames, Animals, Centrosome/metabolism, Databases, Genetic, Genetic Association Studies/methods, Genetic Predisposition to Disease, Humans, Microcephaly/diagnosis, Microcephaly/genetics, Mutation, Phenotype, Signal Transduction, Exome Sequencing, Zebrafish, complex inheritance, exome sequencing, primary microcephaly, zebrafish, Genetics, Allele, Gene, Research Articles, Genetics (clinical), Exome sequencing, Genetic Association Studies, 030304 developmental biology, Centrosome, 0303 health sciences, 030305 genetics & heredity, biology.organism_classification, Digenic inheritance, Microcephaly, Research Article

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bd2f99e495b801ed62fbc262d8c6823
https://serval.unil.ch/resource/serval:BIB_D620C1C3B2CE.P001/REF.pdf

المصدر: Nature Communications. 10(1)

مصطلحات موضوعية: Male, RNA-Binding Proteins/chemistry, Hernia, Nuclear Proteins/chemistry, Transfer/genetics, Research Support, Nephrosis/genetics, Microcephaly/genetics, Mutation, GTP-Binding Proteins/chemistry, Journal Article, Humans, Intrinsically Disordered Proteins/genetics, RNA, Female, Adenosine/analogs & derivatives, Child, Multiprotein Complexes/chemistry, Non-U.S. Gov't, Hiatal/genetics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dris___00893::c5b42fe64b8325c2625aeae04e986785
https://doi.org/10.1038/s41467-019-11951-x

المؤلفون: Arrondel, Christelle, Missoury, Sophia, Snoek, Rozemarijn, Patat, Julie, Menara, Giulia, Collinet, Bruno, Liger, Dominique, Durand, Dominique, Gribouval, Olivier, Boyer, Olivia, Buscara, Laurine, Martin, Gaëlle, Machuca, Eduardo, Nevo, Fabien, Lescop, Ewen, Braun, Daniela A., Boschat, Anne-Claire, Sanquer, Sylvia, Guerrera, Ida Chiara, Revy, Patrick, Parisot, Mélanie, Masson, Cécile, Boddaert, Nathalie, Charbit, Marina, Decramer, Stéphane, Novo, Robert, Macher, Marie-Alice, Ranchin, Bruno, Bacchetta, Justine, Laurent, Audrey, Collardeau-Frachon, Sophie, van Eerde, Albertien M., Hildebrandt, Friedhelm, Magen, Daniella, Antignac, Corinne, van Tilbeurgh, Herman, Mollet, Géraldine

المساهمون: Institut de Biologie Intégrative de la Cellule (I2BC), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), Molecular bases of hereditary kidney diseases: nephronophthisis and hypodysplasia (Equipe Inserm U1163), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Center for Molecular medicine [Utrecht], University Medical Center [Utrecht], Department of Genetics [Utrecht, the Netherlands], Institut de minéralogie, de physique des matériaux et de cosmochimie (IMPMC), Muséum national d'Histoire naturelle (MNHN)-Institut de recherche pour le développement [IRD] : UR206-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de néphrologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut de Chimie des Substances Naturelles (ICSN), Centre National de la Recherche Scientifique (CNRS)-Institut de Chimie du CNRS (INC), Department of Medicine [Boston, MA, USA], Harvard Medical School [Boston] (HMS)-Boston Children's Hospital, Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de biochimie métabolique [CHU Necker], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Toxicité environnementale, cibles thérapeutiques, signalisation cellulaire (T3S - UMR_S 1124), Université Paris Descartes - Paris 5 (UPD5)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Plateforme Protéomique Necker [SFR Necker] (PPN - 3P5), Structure Fédérative de Recherche Necker (SFR Necker - UMS 3633 / US24), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Centre National de la Recherche Scientifique (CNRS), Genome dynamics in the immune system (Equipe Inserm U1163), Plateforme de génomique [SFR Necker], Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Neuroimagerie en psychiatrie (U1000), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11), Service de Pédiatrie - Néphrologie, Médecine interne, Hypertension, CHU Toulouse [Toulouse]-Hôpital des Enfants, CHU Toulouse [Toulouse], Unité Néphrologie Pédiatrique [CHRU Lille], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service de Néphrologie pédiatrique [Hôpital Robert Debré, Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Service de néphrologie, rhumatologie et dermatologie pédiatriques [Hôpital Femme Mère Enfant, HCL], Hospices Civils de Lyon (HCL)-Hôpital Mère Enfant, Service de Pathologie [Hôpital Femme-Mère-Enfant, HCL], Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon, Division of Nephrology [Boston, MA, USA] (Department of Medicine), Boston Children's Hospital, Pediatric Nephrology Institute [Haifa, Israel], Rambam Health Care Campus [Haifa, Israel]-Technion Faculty of Medicine [Haifa, Israel], Service de Génétique Médicale [CHU Necker], This work was supported by the Fondation pour le Recherche Médicale (project DEQ2015031682) (to C. Antignac), the European Union’s Seventh Framework Programme (FP7/2012, grant 305608 EURenOmics) (to C. Antignac), the Investments for the Future Program (grant ANR-10-IAHY-01) (to C. Antignac), ANR KeoGamo (ANR-18-CE11-0008-01) (to G. Mollet and H.v.T.). This work was supported by the French Infrastructure for Integrated Structural Biology (FRISBI) (ANR-10-INSB-05–01) (to H.v.T.) and the Dutch Kidney Foundation (grant 15OP14) (to A.M.v.E.). S.M. is supported by a Ph.D. grant of the Fondation pour le Recherche Médicale (FRM). P.R. is a scientist from Centre National de la Recherche Scientifique (CNRS)., ANR-10-IAHU-0001,Imagine,Institut Hospitalo-Universitaire Imagine(2010), ANR-18-CE11-0008,KeoGamo,Caractérisation fonctionnelle du complexe KEOPS et son implication dans le syndrome de Galloway-Mowat(2018), ANR-10-INBS-0005,FRISBI,Infrastructure Française pour la Biologie Structurale Intégrée(2010), European Project: 305608,EC:FP7:HEALTH,FP7-HEALTH-2012-INNOVATION-1,EURENOMICS(2012), Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Gribouval, Olivier, Instituts Hospitalo-Universitaires - Institut Hospitalo-Universitaire Imagine - - Imagine2010 - ANR-10-IAHU-0001 - IAHU - VALID, APPEL À PROJETS GÉNÉRIQUE 2018 - Caractérisation fonctionnelle du complexe KEOPS et son implication dans le syndrome de Galloway-Mowat - - KeoGamo2018 - ANR-18-CE11-0008 - AAPG2018 - VALID, Infrastructure Française pour la Biologie Structurale Intégrée - - FRISBI2010 - ANR-10-INBS-0005 - INBS - VALID, European Consortium for High-Throughput Research in Rare Kidney Diseases - EURENOMICS - - EC:FP7:HEALTH2012-10-01 - 2017-09-30 - 305608 - VALID

المصدر: Nature Communications
Nature Communications, Nature Publishing Group, 2019, 10 (1), pp.3967. ⟨10.1038/s41467-019-11951-x⟩
Nature Communications, 2019, 10 (1), pp.3967. ⟨10.1038/s41467-019-11951-x⟩
Nature Communications, 10(1). Nature Publishing Group
Nature Communications, Vol 10, Iss 1, Pp 1-13 (2019)

مصطلحات موضوعية: Male, Adenosine, [SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC], [SDV.GEN] Life Sciences [q-bio]/Genetics, Nephrosis/genetics, Microcephaly/genetics, RNA, Transfer, MESH: Child, lcsh:Science, Child, MESH: Intrinsically Disordered Proteins, Research Support, Non-U.S. Gov't, Medical genetics, Nuclear Proteins, RNA-Binding Proteins, [SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology, [SDV.IMM.IA]Life Sciences [q-bio]/Immunology/Adaptive immunology, MESH: Nephrosis, Microcephaly, Nephrosis, Intrinsically Disordered Proteins/genetics, Female, Multiprotein Complexes/chemistry, RNA, Transfer/genetics, RNA-Binding Proteins/chemistry, MESH: Mutation, MESH: GTP-Binding Proteins, Science, Nuclear Proteins/chemistry, MESH: Microcephaly, Article, MESH: Hernia, Hiatal, GTP-Binding Proteins, Hernia, Hiatal/genetics, GTP-Binding Proteins/chemistry, Journal Article, Humans, X-ray crystallography, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, MESH: Multiprotein Complexes, MESH: Adenosine, MESH: RNA, Transfer, RNA modification, MESH: Male, tRNAs, Intrinsically Disordered Proteins, MESH: RNA-Binding Proteins, Hernia, Hiatal, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Multiprotein Complexes, Mutation, lcsh:Q, Adenosine/analogs & derivatives, MESH: Nuclear Proteins, MESH: Female

وصف الملف: image/pdf; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e0b6268b745b3ed31edd2587f0bdbe99
https://www.hal.inserm.fr/inserm-02322309

المؤلفون: Benyelles, Maname, Episkopou, Charikleia, O’Donohue, Marie-Françoise, Kermasson, Laëtitia, Frange, Pierre, Poulain, Florian, Burcu Belen, Fatma, Polat, Meltem, Bole-Feysot, Christine, Langa-Vives, Francina, Gleizes, Pierre-Emmanuel, de Villartay, Jean-Pierre, Callebaut, Isabelle, Decottignies, Anabelle, Revy, Patrick

المساهمون: UCL - SSS/DDUV/GEPI - Epigénétique

المصدر: EMBO Molecular Medicine, Vol. June 6, no.June 6, p. e10201 (2019)

مصطلحات موضوعية: p53, Male, protein p53, TPP1 gene, Høyeraal–Hreidarsson syndrome, dyskeratosis congenita, preschool child, fibroblast, TRF1 gene, Mice, genetic stability, telomere length, animal, genetics, gene mutation, microcephaly, rRNA, telomere homeostasis, POT1 gene, poly(A)-specific ribonuclease, TRF2 gene, Mice, Knockout, child, clinical article, telomere, Fetal Growth Retardation, messenger RNA, intrauterine growth retardation, PARN gene, female, priority journal, Child, Preschool, ribosome RNA, enzyme deficiency, down regulation, shelterin, PARN, animal experiment, Article, gene knockout, exoribonuclease, Intellectual Disability, Animals, Humans, controlled study, human, gene, chromosomal parameters, mouse, nonhuman, polynucleotide adenylyltransferase, human cell, disease model, intellectual impairment, genetic transcription, biogenesis, school child, infant, Disease Models, Animal, Dyskeratosis Congenita/genetics/*metabolism/pathology, Exoribonucleases/*deficiency/metabolism, Female, Fetal Growth Retardation/genetics/*metabolism/pathology, Intellectual Disability/genetics/*metabolism/pathology, Microcephaly/genetics/*metabolism/pathology, RNA, Ribosomal/*biosynthesis/genetics, Telomere/genetics/*metabolism/pathology, Telomere Homeostasis, RAP1 gene, RNA, Ribosomal, Exoribonucleases, gene expression, pathology, biosynthesis, knockout mouse, metabolism

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6f04c86ff4d4d7c750ff26070179577a

المؤلفون: D'Angelo, D., Lebon, S., Chen, Q., Martin-Brevet, S., Snyder, L. G., Hippolyte, L., Hanson, E., Maillard, A. M., Faucett, W. A., Mace, A., Pain, A., Bernier, R., Chawner, S. J. R. A., David, A., Andrieux, J., Aylward, E., Baujat, G., Caldeira, I., Conus, P., Ferrari, C., Forzano, F., Gerard, M., Goin-Kochel, R. P., Grant, E., Hunter, J. V., Isidor, B., Jacquette, A., Jonch, A. E., Keren, B., Lacombe, D., Le Caignec, C., Martin, C. L., Mannik, K., Metspalu, A., Mignot, C., Mukherjee, P., Owen, M. J., Passeggeri, M., Rooryck-Thambo, C., Rosenfeld, J. A., Spence, S. J., Steinman, K. J., Tjernagel, J., Van Haelst, M., Shen, Y., Draganski, B., Sherr, E. H., Ledbetter, D. H., van den Bree, M. B. M., Beckmann, J. S., Spiro, J. E., Reymond, A., Jacquemont, S., Chung, W. K., Knoers, N. V. A. M., Martinet, D., Belfiore, M., Cuvellier, J. -C., Devries, B., Delrue, M. -A., Doco-Fenzy, M., Lebel, R., Leheup, B., Lewis, S., Mencarelli, M. A., Minet, J. -C., Vincent-Delorme, C., Moerman, A., Mucciolo, M., Ounap, K., Rajcan-Separovic, E., Renieri, A., Sanlaville, D., Faas, B. H., Koolen, D. A., Vulto-Van Silfhout, A., de Leeuw, N., Rosanfeld, J. A., Filges, I., Achatz, E., Roetzer, K. M., Bonneau, D., Guichet, A., Lazaro, L., Plessis, G., Kroisel, P. M., Reis, A., Jonveaux, P., Chantot-Bastaraud, S., Rauch, A., Demeer, B., Nordgren, A., Labalme, A., Ferrarini, A., Ramelli, G. P., Guilmatre, A., Joly-Helas, G., Haize, S., Layet, V., Le Gallic, S., de Freminville, B., Touraine, R., Van Binsbergen, E., Mathieu-Dramard, M., Barth, M., Blaumeiser, B., Masurel, A., Cailler, P., Olivier-Faivre, L., Malacarne, M., Coutton, C., Dieterich, K., Satre, V., Wallgren-Pettersson, C., Tensgrom, C., Kaksonen, S., Duban-Bedu, B., Holder, M., Rossi, M., Gaillard, D., Bock, D., Bednarek, N., Guillin, O., Bizzarri, V., Flori, E., Silengo, M., Kooy, R. F., Aboura, A., Beri, M., Delobel, B., Drunat, S., Jaros, Z., Kolk, A., Reigo, A., Zufferey, F., Beckmann, N., Faravelli, F., Alupay, H., Aaronson, B., Ackerman, S., Ankenman, K., Anwar, A., Atwell, C., Bowe, A., Beaudet, A. L., Benedetti, M., Berg, J., Berman, J., Berry, L. N., Bibb, A. L., Blaskey, L., Brennan, J., Brewton, C. M., Buckner, R., Bukshpun, P., Burko, J., Cali, P., Cerban, B., Chang, Y., Cheong, M., Chow, V., Chu, Z., Chudnovskaya, D., Cornew, L., Dale, C., Dell, J., Dempsey, A. G., Deschamps, T., Earl, R., Edgar, J., Elgin, J., Endre, J., Evans, Y. L., Findlay, A., Fischbach, G. D., Fisk, C., Fregeau, B., Gaetz, B., Gaetz, L., Garza, S., Gerdts, J., Glenn, O., Gobuty, S. E., Golembski, R., Greenup, M., Heiken, K., Hines, K., Hinkley, L., Jackson, F. I., Jenkins, J., Jeremy, R. J., Johnson, K., Kanne, S. M., Kessler, S., Khan, S. Y., Ku, M., Kuschner, E., Laakman, A. L., Lam, P., Lasala, M. W., Lee, H., La, K., Levy, S., Lian, A., Llorens, A. V., Loftus, K., Luks, T. L., Marco, E. J., Martin, S., Martin, A. J., Marzano, G., Masson, C., Mcgovern, K. E., Keehn, R. M., Miller, D. T., Miller, F. K., Moss, T. J., Murray, R., Nagarajan, S. S., Nowell, K. P., Owen, J., Paal, A. M., Packer, A., Page, P. Z., Paul, B. M., Peters, A., Peterson, D., Poduri, A., Pojman, N. J., Porche, K., Proud, M. B., Qasmieh, S., Ramocki, M. B., Reilly, B., Roberts, T. P. L., Shaw, D., Sinha, T., Smith, B., Snow, A., Swarnakar, V., Thieu, T., Triantafallou, C., Vaughan, R., Wakahiro, M., Wallace, A., Ward, T., Wenegrat, J., Wolken, A.

المساهمون: Blaumeiser, Bettina, Kooy, Frank, Other departments, Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study, 16p11.2 European Consortium, Simons Variation in Individuals Project (VIP) Consortium, Knoers, VA., Martinet, D., Belfiore, M., Cuvellier, JC., de Vries, B., Delrue, MA., Doco-Fenzy, M., Lebel, R., Leheup, B., Lewis, S., Mencarelli, MA., Minet, JC., Vincent-Delorme, C., Moerman, A., Mucciolo, M., Ounap, K., Rajcan-Separovic, E., Renieri, A., Sanlaville, D., Faas, BH., Koolen, DA., Vulto-van Silfhout, A., de Leeuw, N., Rosenfeld, JA., Filges, I., Achatz, E., Roetzer, KM., Bonneau, D., Guichet, A., Lazaro, L., Plessis, G., Kroisel, PM., Reis, A., Jonveaux, P., Chantot-Bastaraud, S., Rauch, A., Demeer, B., Nordgren, A., Labalme, A., Ferrarini, A., Ramelli, GP., Guilmatre, A., Joly-Helas, G., Haize, S., Layet, V., Le Gallic, S., de Fréminville, B., Touraine, R., Van Binsbergen, E., Mathieu-Dramard, M., Barth, M., Blaumeiser, B., Masurel, A., Cailler, P., Olivier-Faivre, L., Malacarne, M., Coutton, C., Dieterich, K., Satre, V., Wallgren-Pettersson, C., Tensgrom, C., Kaksonen, S., Duban-Bedu, B., Holder, M., Rossi, M., Gaillard, D., Bock, D., Bednarek, N., Guillin, O., Bizzarri, V., Flori, E., Silengo, M., Kooy, RF., Aboura, A., Beri, M., Delobel, B., Drunat, S., Jaros, Z., Kolk, A., Reigo, A., Zufferey, F., Beckmann, N., Faravelli, F., Alupay, H., Aaronson, B., Ackerman, S., Ankenman, K., Anwar, A., Atwell, C., Bowe, A., Beaudet, AL., Benedetti, M., Berg, J., Berman, J., Berry, LN., Bibb, AL., Blaskey, L., Brennan, J., Brewton, CM., Buckner, R., Bukshpun, P., Burko, J., Cali, P., Cerban, B., Chang, Y., Cheong, M., Chow, V., Chu, Z., Chudnovskaya, D., Cornew, L., Dale, C., Dell, J., Dempsey, AG., Deschamps, T., Earl, R., Edgar, J., Elgin, J., Olson, JE., Evans, YL., Findlay, A., Fischbach, GD., Fisk, C., Fregeau, B., Gaetz, B., Gaetz, L., Garza, S., Gerdts, J., Glenn, O., Gobuty, SE., Golembski, R., Greenup, M., Heiken, K., Hines, K., Hinkley, L., Jackson, FI., Jenkins J.3rd, Jeremy, RJ., Johnson, K., Kanne, SM., Kessler, S., Khan, SY., Ku, M., Kuschner, E., Laakman, AL., Lam, P., Lasala, MW., Lee, H., LaGuerre, K., Levy, S., Lian Cavanagh, A., Llorens, AV., Loftus Campe, K., Luks, TL., Marco, EJ., Martin, S., Martin, AJ., Marzano, G., Masson, C., McGovern, KE., McNally Keehn, R., Miller, DT., Miller, FK., Moss, TJ., Murray, R., Nagarajan, SS., Nowell, KP., Owen, J., Paal, AM., Packer, A., Page, PZ., Paul, BM., Peters, A., Peterson, D., Poduri, A., Pojman, NJ., Porche, K., Proud, MB., Qasmieh, S., Ramocki, MB., Reilly, B., Roberts, TP., Shaw, D., Sinha, T., Smith-Packard, B., Snow Gallagher, A., Swarnakar, V., Thieu, T., Triantafallou, C., Vaughan, R., Wakahiro, M., Wallace, A., Ward, T., Wenegrat, J., Wolken, A., Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D)

المصدر: JAMA psychiatry
Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study 2016, ' Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities ', JAMA Psychiatry, vol. 73, no. 1, pp. 20-30 . https://doi.org/10.1001/jamapsychiatry.2015.2123
JAMA PSYCHIATRY
JAMA psychiatry, 73(1), 20-30. American Medical Association
JAMA Psychiatry, 73, 1, pp. 20-30
JAMA Psychiatry
Jama Psychiatry, vol. 73, no. 1, pp. 20-30
JAMA Psychiatry, 73(1), 20. American Medical Association
JAMA Psychiatry, 73(1), 20-30. American Medical Association
JAMA Psychiatry, 73, 20-30

مصطلحات موضوعية: Male, 0301 basic medicine, Proband, Pediatrics, Autism Spectrum Disorder, Developmental Disabilities, Chromosome Disorders, Comorbidity, Nonverbal learning disorder, Cohort Studies, Cognition, 0302 clinical medicine, Cerebellum, Chromosome Duplication, Gene duplication, Copy-number variation, Non-U.S. Gov't, Child, 2. Zero hunger, Intelligence quotient, Research Support, Non-U.S. Gov't, Middle Aged, Psychiatry and Mental health, Microcephaly, Female, Schizophrenic Psychology, Chromosome Deletion, Psychology, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Human, Adult, medicine.medical_specialty, Adolescent, DNA Copy Number Variations, Research Support, Nervous System Malformations, Article, Chromosomes, Young Adult, 03 medical and health sciences, Intellectual Disability, Journal Article, medicine, Humans, Autistic Disorder, Preschool, Psychiatry, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Epilepsy, Pair 16, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Case-control study, Autism Spectrum Disorder/epidemiology, Autism Spectrum Disorder/genetics, Autistic Disorder/epidemiology, Autistic Disorder/genetics, Case-Control Studies, Cerebellum/abnormalities, Child, Preschool, Chromosome Disorders/epidemiology, Chromosome Disorders/genetics, Chromosomes, Human, Pair 16/genetics, Developmental Disabilities/epidemiology, Developmental Disabilities/genetics, Epilepsy/epidemiology, Epilepsy/genetics, Intellectual Disability/epidemiology, Intellectual Disability/genetics, Microcephaly/epidemiology, Microcephaly/genetics, Nervous System Malformations/epidemiology, Nervous System Malformations/genetics, Schizophrenia/epidemiology, Schizophrenia/genetics, medicine.disease, 030104 developmental biology, Chromosomes, Human, Pair 16, Schizophrenia, Autism, Human medicine, 030217 neurology & neurosurgery

وصف الملف: image/pdf; pdf; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::221714038bda1846e56d6e2e8e45f87a
http://archpsyc.jamanetwork.com/article.aspx?articleid=2471269

المؤلفون: Tomasz Gambin, Stylianos E. Antonarakis, Jennifer McEvoy-Venneri, Najmeh Ahangari, Kiely N. James, Justyna Iwaszkiewicz, Amera Elbadawy, Shalini N. Jhangiani, Zeynep Coban Akdemir, Asbjørg Stray-Pedersen, Valentina Stanley, Federico Santoni, Vincent Zoete, Paul Hoff Backe, Reza Maroofian, Damir Musaev, Denice Belandres, Joseph G. Gleeson, Arvid Heiberg, Periklis Makrythanasis, James R. Lupski, Iman G Mahmoud, Mohammad Doosti, Laila Selim, Maha S. Zaki, Hanan Hamamy, Fatemeh Tara, Michel Guipponi, Ehsan Ghayoor Karimiani, Hanne Sørmo Sorte

المصدر: European Journal of Human Genetics
European journal of human genetics, vol. 26, no. 3, pp. 330-339

مصطلحات موضوعية: 0301 basic medicine, Microcephaly, Mutation, Missense, Kinesins, Biology, medicine.disease_cause, Article, 03 medical and health sciences, 0302 clinical medicine, Protein Domains, Loss of Function Mutation, Child, Child, Preschool, Female, Humans, Intellectual Disability/genetics, Intellectual Disability/pathology, Kinesin/chemistry, Kinesin/genetics, Kinesin/metabolism, Microcephaly/genetics, Microcephaly/pathology, Oncogene Proteins/chemistry, Oncogene Proteins/genetics, Oncogene Proteins/metabolism, Pedigree, Phenotype, Syndrome, Intellectual Disability, Intellectual disability, Genetics, medicine, Missense mutation, Mitosis, Genetics (clinical), Oncogene Proteins, Mutation, medicine.disease, 3. Good health, 030104 developmental biology, Kinesin, Spindle localization, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ac4519c9762812054ab57ca69ceebe8
http://hdl.handle.net/10852/71698