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1
المؤلفون: Martina Miceli, Pinella Failla, Lucia Saccuzzo, Ornella Galesi, Silvestra Amata, Corrado Romano, Maria Clara Bonaglia, Marco Fichera
مصطلحات موضوعية: Neurodevelopmental delay, Genetics, 2p15p16.1 microdeletion syndrome, Epistasis, Additive effect, Penetrance, Molecular Biology, Biochemistry
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المؤلفون: Mark Matsushita, Beate Peter, Wendy H. Raskind, Kaori Oda
المصدر: American Journal of Medical Genetics Part A. 164:2091-2096
مصطلحات موضوعية: Male, Heterozygote, Biology, Severity of Illness Index, Speech Sound Disorder, Dysarthria, Intellectual disability, Genetics, medicine, Humans, Craniofacial, Child, Genetic Association Studies, Genetics (clinical), Language Disorders, Dyslexia, Chromosome Mapping, Nuclear Proteins, medicine.disease, Hypotonia, 2p15p16.1 microdeletion syndrome, Repressor Proteins, Phenotype, Chromosomes, Human, Pair 2, Childhood apraxia of speech, Speech sound disorder, Chromosome Deletion, medicine.symptom, Carrier Proteins
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3
المؤلفون: Peter J. van der Spek, Joyce M.G. Florisson, Bert B.A. de Vries, Pino J. Poddighe, Bert Eussen, Irene M.J. Mathijssen, Ben A. Oostra, Jeannette A.M. Hoogeboom, Jean Pierre Frijns, Linda Koster, Annelies de Klein, Annemieke J.M.H. Verkerk, Belinda Dumee, Sigrid M. A. Swagemakers
المساهمون: Plastic and Reconstructive Surgery and Hand Surgery, Clinical Genetics, Pathology
المصدر: American Journal of Medical Genetics. Part A, 161A, 2, pp. 244-253
American Journal of Medical Genetics. Part A, 161A, 244-253
American Journal of Medical Genetics Part A, 161A(2), 244-253. Wiley-Liss Inc.مصطلحات موضوعية: Adult, Male, Microcephaly, Adolescent, Developmental Disabilities, Abnormal Karyotype, Complex craniosynostosis, Polymorphism, Single Nucleotide, Craniosynostosis, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], Fingers, Craniosynostoses, Genetics, Humans, Medicine, Abnormalities, Multiple, Child, Genetic Association Studies, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Renal disorder [IGMD 9], medicine.diagnostic_test, business.industry, Infant, Syndrome, Microdeletion syndrome, medicine.disease, 2p15p16.1 microdeletion syndrome, Phenotype, Molecular Diagnostic Techniques, Attention Deficit Disorder with Hyperactivity, Child, Preschool, Chromosomes, Human, Pair 2, Chromosomal region, Female, Chromosome Deletion, business, Fluorescence in situ hybridization, SNP array
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4
المؤلفون: Gabriela Sánchez-Andrade, Susan E. Holder, Jeremy F. McRae, Stephen J. Sawiak, Song-Choon Lee, Pelagia Deriziotis, Shelagh Joss, Tjitske Kleefstra, Julien Thevenon, Jenny Morton, Simon E. Fisher, Cristina Dias, Mathew E. Hurles, Sara Busquets Estruch, Kelly Mellul, Claire L. S. Turner, Darren W. Logan, Sarah A. Graham, Rui Santos, Ximena Ibarra-Soria, Laurence Faivre, Jane A. Hurst, Pentao Liu
المساهمون: DDD Study, Biologie moléculaire et cellulaire de la différenciation, Université Joseph Fourier - Grenoble 1 (UJF)-Institut Albert Bonniot-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), 849 Department of Human Genetics, Radboud University Medical Center [Nijmegen], Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, The Wellcome Trust Sanger Institute [Cambridge], Max Planck Society University of Cambridge Wellcome Trust EMBO Health Innovation Challenge Fund HICF-1009-003 Department of Health Wellcome Trust Sanger Institute National Institute for Health Research through the Comprehensive Clinical Research Network Regional Council of Burgundy Dijon University Hospital
المصدر: The American Journal of Human Genetics
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2016, 99 (2), pp.253-274. ⟨10.1016/j.ajhg.2016.05.030⟩
American Journal of Human Genetics, 99, 2, pp. 253-274
American Journal of Human Genetics, 99, 253-274
Dias, C, Estruch, S B, Graham, S A, McRae, J, Sawiak, S J, Hurst, J A, Joss, S K, Holder, S E, Morton, J E V, Turner, C, Thevenon, J, Mellul, K, Sánchez-Andrade, G, Ibarra-Soria, X, Deriziotis, P, Santos, R F, Lee, S-C, Faivre, L, Kleefstra, T, Liu, P, Hurles, M E & Fisher, S E & Logan, D W 2016, ' BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription ', American Journal of Human Genetics, vol. 99, no. 2, pp. 253-274 . https://doi.org/10.1016/j.ajhg.2016.05.030مصطلحات موضوعية: 0301 basic medicine, Male, Haploinsufficiency/genetics, Microcephaly, Transcription, Genetic, Codon, Nonsense/genetics, Haploinsufficiency, Neurodevelopmental Disorders/genetics, Hippocampus, projection neurons, neural development, Microcephaly/genetics, Mice, 0302 clinical medicine, Intellectual disability, epileptic encephalopathies, Missense mutation, Genetics(clinical), genes, Frameshift Mutation, Genetics (clinical), Genetics, Cerebral Cortex, axon guidance, 2p15p16.1 microdeletion syndrome, Nuclear Proteins, cell-differentiation, Syndrome, Transcription Factors/chemistry, Phenotype, Mutation, Missense/genetics, Codon, Nonsense, Neuroinformatics, lymphoid development, autism spectrum disorders, Hippocampus/metabolism, Mutation, Missense, Nuclear Proteins/chemistry, Biology, Article, Frameshift mutation, 03 medical and health sciences, Intellectual Disability, medicine, Animals, Humans, Social Behavior, Transcription factor, Frameshift Mutation/genetics, Loss function, de-novo mutations, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Genetic heterogeneity, Chromatin Assembly and Disassembly/genetics, Carrier Proteins/chemistry, medicine.disease, Chromatin Assembly and Disassembly, Intellectual Disability/genetics, Repressor Proteins, 030104 developmental biology, Cerebral Cortex/metabolism, Neurodevelopmental Disorders, Carrier Proteins, Cognition Disorders, Transcriptome, Cognition Disorders/genetics, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030217 neurology & neurosurgery, Transcription Factors
وصف الملف: application/pdf
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المؤلفون: Mark O'Driscoll, Anna Lehman, Xianghong Shan, Bruno Maranda, Cheryl Y. Gregory-Evans, Małgorzata J.M. Nowaczyk, Ying Qiao, Chansonette Badduke, Rita Colnaghi, Jiadi Wen, Robert S. Wildin, Jennifer Eichmeyer, Iga Abramowicz, Diana Alcantara, Christopher Dunham, Suzanne M E Lewis, Sally Martell, Hani Bagheri, Evica Rajcan-Separovic
المصدر: JCI Insight, Vol 1, Iss 3 (2016)
مصطلحات موضوعية: 0301 basic medicine, Male, Candidate gene, Microcephaly, Adolescent, Developmental Disabilities, Receptors, Cytoplasmic and Nuclear, lcsh:Medicine, Chromosome Disorders, Biology, Karyopherins, 03 medical and health sciences, medicine, Genetics, Animals, Humans, Abnormalities, Multiple, Child, Zebrafish, Gene knockdown, lcsh:R, Infant, Nuclear Proteins, General Medicine, Microdeletion syndrome, biology.organism_classification, medicine.disease, Phenotype, 2p15p16.1 microdeletion syndrome, Hypotonia, Proto-Oncogene Proteins c-rel, Repressor Proteins, 030104 developmental biology, Child, Preschool, Chromosomes, Human, Pair 2, Gene Knockdown Techniques, Female, medicine.symptom, Chromosome Deletion, Carrier Proteins, Research Article
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المؤلفون: Alex R. Paciorkowski, Vishwanathan Hucthagowder, Christopher D. Anderson, Shashikant Kulkarni, Louis P. Dehner, Martin S. Keller, Liu Lin Thio, Ta-Chiang Liu, Dorothy K. Grange, Thomas E. Herman
المصدر: European Journal of Medical Genetics. 55:485-489
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Developmental Disabilities, Biology, Kidney, Seizures, Genetics, medicine, Humans, SNP, Abnormalities, Multiple, Choledochal cysts, Genetics (clinical), Chromosome, Syndrome, General Medicine, Microdeletion syndrome, medicine.disease, 2p15p16.1 microdeletion syndrome, medicine.anatomical_structure, Child, Preschool, Choledochal Cyst, Chromosomes, Human, Pair 2, Female, Chromosome Deletion, Haploinsufficiency, SNP array
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7Academic Journal
المؤلفون: Dias, Cristina, Estruch, Sara b., Graham, Sarah a., Mcrae, Jeremy, Sawiak, Stephen j., Hurst, Jane a., Joss, Shelagh k., Holder, Susan e., Morton, Jenny e.V., Turner, Claire, Thévenon, Julien, Mellul, Kelly, Sánchez-Andrade, Gabriela, Ibarra-Soria, Ximena, Deriziotis, Pelagia, Santos, Rui f., Lee, Song-Choon, Faivre, Laurence, Kleefstra, Tjitske, Liu, Pentao, Hurles, Mathew e., Fisher, Simon e., Logan, Darren w.
المساهمون: Biologie moléculaire et cellulaire de la différenciation, Université Joseph Fourier - Grenoble 1 (UJF)-Institut Albert Bonniot-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), 849 Department of Human Genetics, Radboud University Medical Center Nijmegen, Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, The Wellcome Trust Sanger Institute Cambridge, Max Planck Society University of Cambridge Wellcome Trust EMBO Health Innovation Challenge Fund HICF-1009-003 Department of Health Wellcome Trust Sanger Institute National Institute for Health Research through the Comprehensive Clinical Research Network Regional Council of Burgundy Dijon University Hospital
المصدر: ISSN: 0002-9297.
مصطلحات موضوعية: de-novo mutations, 2p15p16.1 microdeletion syndrome, autism spectrum disorders, epileptic encephalopathies, cell-differentiation, lymphoid development, projection neurons, neural development, axon guidance, genes, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Relation: hal-01680178; https://u-bourgogne.hal.science/hal-01680178; PUBMEDCENTRAL: PMC4974071
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8
المؤلفون: Céline Dupont, Sandrine Passemard, Clarisse Baumann, Alain Verloes, Géraldine Viot, Aurélie Coussement, Brigitte Benzacken, Anne-Claude Tabet, Jean-Michel Dupont, Jonathan I. Levy, Fabien Guimiot, Yline Capri, Eva Pipiras, Séverine Drunat
المصدر: American journal of medical genetics. Part A. 173(8)
مصطلحات موضوعية: 0301 basic medicine, Male, Microcephaly, Genetic counseling, Developmental Disabilities, Receptors, Cytoplasmic and Nuclear, Prenatal diagnosis, Biology, Karyopherins, Contiguous gene syndrome, 03 medical and health sciences, Genetics, medicine, Humans, Abnormalities, Multiple, Genetics (clinical), Brain, Infant, Nuclear Proteins, Microdeletion syndrome, medicine.disease, Magnetic Resonance Imaging, 2p15p16.1 microdeletion syndrome, Repressor Proteins, 030104 developmental biology, Phenotype, Child, Preschool, Chromosomes, Human, Pair 2, Speech delay, Autism, Female, Ubiquitin-Specific Proteases, medicine.symptom, Chromosome Deletion, Carrier Proteins