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المؤلفون: Teun M. Klein Gunnewiek, Maria Rosaria Vitale, Brooke L. Latour, Sophie Jansen, Nael Nadif Kasri, Jon-Ruben van Rhijn, Dirk Schubert, Eline J.H. van Hugte, Martijn Selten, Jitske Bak, Anouk H.A. Verboven, Alessia Anania, Ilse M. van der Werf, Katrin Linda, Klaus-Peter Lesch, Johanna E. M. Zöller, Hans van Bokhoven, Chantal Schoenmaker, Moritz Negwer, Britt Mossink, Monica Frega, Jason M. Keller, Shan Wang, Astrid R. Oudakker
المساهمون: Clinical Neurophysiology, TechMed Centre, Psychiatrie & Neuropsychologie, RS: MHeNs - R3 - Neuroscience
المصدر: Molecular Psychiatry, 27, 1-18
Molecular Psychiatry, 27, 1-18. Nature Publishing Group
Mol Psychiatry
Molecular Psychiatry, 27, 1, pp. 1-18
Molecular Psychiatry, 27(1), 1-18. Nature Publishing Groupمصطلحات موضوعية: INTERNEURONS, 0301 basic medicine, Integrins, Induced Pluripotent Stem Cells, Population, INHIBITION, Regulator, ADHESION, Inhibitory postsynaptic potential, 03 medical and health sciences, Cellular and Molecular Neuroscience, Glutamatergic, 0302 clinical medicine, Humans, TRANSCRIPTION FACTOR, GABAergic Neurons, GENOME-WIDE ASSOCIATION, FUNCTIONAL MATURATION, AUTISM, Induced pluripotent stem cell, education, Molecular Biology, education.field_of_study, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], RECEPTOR, biology, IMBALANCE, Cadherins, Psychiatry and Mental health, Parvalbumins, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], 030104 developmental biology, Synapses, T-CADHERIN, biology.protein, GABAergic, Stem cell, Neuroscience, 030217 neurology & neurosurgery, Parvalbumin
وصف الملف: application/pdf
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المؤلفون: Marina P Hommersom, Chantal Schoenmaker, Astrid R. Oudakker, Katrin Linda, Lynn Devilee, Elly Lewerissa, Nael Nadif Kasri, Anouk H.A. Verboven, Bert B.A. de Vries, Michele Gabriele, Giuseppe Testa, David A. Koolen, Hans van Bokhoven, Monica Frega, Teun M. Klein Gunnewiek, Edda Ulferts, Dirk Schubert
المساهمون: Clinical Neurophysiology, TechMed Centre
المصدر: Autophagy, 18, 2, pp. 423-442
Autophagy, 18(2), 423-442. Landes Bioscience
Autophagy, 18, 423-442مصطلحات موضوعية: Autophagosome, iPSCs, Chromatin remodeling, Epigenesis, Genetic, Superoxide Dismutase-1, Sequestosome 1, Koolen-de Vries syndrome, Intellectual Disability, Lysosome, medicine, Autophagy, neuronal development, Humans, Abnormalities, Multiple, education, synaptic function, Molecular Biology, Mechanistic target of rapamycin, PI3K/AKT/mTOR pathway, Sirolimus, chemistry.chemical_classification, reactive oxygen species, Reactive oxygen species, education.field_of_study, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], biology, Lysine, TOR Serine-Threonine Kinases, MTOR, Autophagosomes, Cell Biology, Cell biology, medicine.anatomical_structure, chemistry, biology.protein, Chromosome Deletion, Lysosomes, Chromosomes, Human, Pair 17
وصف الملف: application/pdf
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المؤلفون: Lynn Devilee, Giuseppe Testa, Dirk Schubert, EIly I. Lewerissa, Nael Nadif Kasri, Monica Frega, Edda Ulferts, Michele Gabriele, Hans van Bokhoven, Katrin Linda, Chantal Schoenmaker, Teun M. Klein Gunnewiek, Anouk H.A. Verboven, Bert B.A. de Vries, David A. Koolen, Astrid R. Oudakker
مصطلحات موضوعية: Autophagosome, chemistry.chemical_classification, Reactive oxygen species, biology, Chemistry, Autophagy, medicine.disease_cause, Cell biology, Synapse, Superoxide dismutase, medicine.anatomical_structure, Lysosome, medicine, biology.protein, Oxidative stress, PI3K/AKT/mTOR pathway
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4
المؤلفون: Alessia Anania, Sophie Jansen, Jon-Ruben van Rhijn, Hans van Bokhoven, Nael Nadif Kasri, Katrin Linda, Britt Mossink, Anouk H.A. Verboven, Jitske Bak, Dirk Schubert, Teun M. Klein Gunnewiek, Shan Wang, Eline J.H. van Hugte, Jason M. Keller, Monica Frega, Astrid R. Oudakker, Martijn Selten, Chantal Schoenmaker
مصطلحات موضوعية: education.field_of_study, Glutamatergic, biology, Cadherin, Population, biology.protein, Regulator, GABAergic, Stem cell, Inhibitory postsynaptic potential, education, Neuroscience, Parvalbumin
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المؤلفون: Monica Frega, Moritz Negwer, Teun M. Klein Gunnewiek, Güvem Gümüş-Akay, Astrid R. Oudakker, Katharina Foreman, Britt Mossink, Jason M. Keller, Nine Kompier, Nael Nadif Kasri, Willem M.R. van den Akker, Huiqing Zhou, Jon-Ruben van Rhijn, Tjitske Kleefstra, Dirk Schubert, Hans van Bokhoven, Chantal Schoenmaker, Katrin Linda
مصطلحات موضوعية: GRIN1, Biology, medicine.disease, EHMT1, Neurodevelopmental disorder, nervous system, Histone methyltransferase, Biological neural network, medicine, biology.protein, Epigenetics, Induced pluripotent stem cell, Neuroscience, Kleefstra Syndrome
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6
المؤلفون: Huiqing Zhou, Tjitske Kleefstra, Teun M. Klein Gunnewiek, Astrid R. Oudakker, Dirk Schubert, Moritz Negwer, Hans van Bokhoven, Ilse M. van der Werf, Katharina Foreman, Monica Frega, Jon-Ruben van Rhijn, Güvem Gümüş-Akay, Katrin Linda, Nael Nadif Kasri, Chantal Schoenmaker, Nine Kompier, Britt Mossink, Jason M. Keller, Willem M.R. van den Akker
المساهمون: Clinical Neurophysiology
المصدر: Nature Communications
Nature Communications, Vol 10, Iss 1, Pp 1-15 (2019)
Nature communications, 10(1):4928. Nature Publishing Group
Nature Communications, 10مصطلحات موضوعية: 0301 basic medicine, Male, General Physics and Astronomy, Craniofacial Abnormalities, Mice, 0302 clinical medicine, Loss of Function Mutation, Induced pluripotent stem cell, lcsh:Science, Kleefstra Syndrome, Cerebral Cortex, Neurons, Multidisciplinary, Developmental disorders, Up-Regulation, Reconstructive and regenerative medicine Radboud Institute for Molecular Life Sciences [Radboudumc 10], Histone methyltransferase, NMDA receptor, Female, Molecular Developmental Biology, Chromosome Deletion, Chromosomes, Human, Pair 9, Heart Defects, Congenital, Science, Induced Pluripotent Stem Cells, Primary Cell Culture, Nerve Tissue Proteins, Biology, Molecular neuroscience, Receptors, N-Methyl-D-Aspartate, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, EHMT1, All institutes and research themes of the Radboud University Medical Center, Downregulation and upregulation, Intellectual Disability, Biological neural network, Animals, Humans, Receptors, AMPA, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], GRIN1, General Chemistry, Histone-Lysine N-Methyltransferase, Cellular neuroscience, Disease Models, Animal, 030104 developmental biology, nervous system, biology.protein, lcsh:Q, Dizocilpine Maleate, Neuroscience, Excitatory Amino Acid Antagonists, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: Bijvank E, Martijn Selten, Huiqing Zhou, Nael Nadif Kasri, B. Mossink, Koerner P, Bokhoven Hv, Jason M. Keller, Tjitske Kleefstra, Katrin Linda, Sophie Jansen, Monica Frega, Jieqiong Qu, Astrid R. Oudakker, Dirk Schubert, Moerschen R
مصطلحات موضوعية: musculoskeletal diseases, EHMT1, Neurodevelopmental disorder, Histone methyltransferase, medicine, Autism, Epigenetics, Biology, medicine.disease, Haploinsufficiency, Neuroscience, Loss function, Kleefstra Syndrome
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المؤلفون: Ziva Ben-Neriah, Raoul C.M. Hennekam, Joris A. Veltman, James D. Lindsey, Sara A. Courtneidge, Hans van Bokhoven, Yasemin Alanay, Ben C.J. Hamel, Mariangela Amenduni, Pilar Cejudo-Martin, Ellen van Beusekom, José Luis Millán, Beate Albrecht, André Mégarbané, Astrid R. Oudakker, Arjan P.M. de Brouwer, Bert van der Zwaag, Zafar Iqbal, Robert N. Weinreb, Pilar Ruiz-Lozano, Rosangela Artuso, M. Cecilia Scimia
المساهمون: Çocuk Sağlığı ve Hastalıkları, Amsterdam Neuroscience, Amsterdam Public Health, Paediatrics
المصدر: American Journal of Human Genetics, 86, 2, pp. 254-61
American Journal of Human Genetics, 86, 254-61
American journal of human genetics, 86(2), 254-261. Cell Pressمصطلحات موضوعية: Heart Defects, Congenital, Male, Genetics and epigenetic pathways of disease [NCMLS 6], Molecular Sequence Data, Medizin, Locus (genetics), Biology, Genomic disorders and inherited multi-system disorders [IGMD 3], Mice, Frank–ter Haar syndrome, Report, Genetics, medicine, Animals, Humans, Genetics(clinical), Abnormalities, Multiple, Amino Acid Sequence, Eye Abnormalities, Gene Silencing, Hypertelorism, Phospholipid Transfer Proteins, Genetics (clinical), Adaptor Proteins, Signal Transducing, Genetics & Heredity, Genetic heterogeneity, Homozygote, Signal transducing adaptor protein, Chromosome Mapping, Syndrome, Disease gene identification, medicine.disease, Musculoskeletal Abnormalities, Child, Preschool, Invadopodia, Mutation, Mutation testing, Female, medicine.symptom, Functional Neurogenomics [DCN 2]
وصف الملف: application/pdf; text/plain
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المؤلفون: Jason M. Keller, Martijn Selten, Giovanni Iacono, Hans van Bokhoven, Roberta Mancini, Astrid R. Oudakker, Monica Frega, Wei Ba, Henk Stunnenberg, Tjitske Kleefstra, Nael Nadif Kasri, Huiqing Zhou, Marco Benevento, Elly Lewerissa
المصدر: Neuron, 91, 2, pp. 341-355
Neuron, 91, 341-355مصطلحات موضوعية: 0301 basic medicine, Heart Defects, Congenital, Patch-Clamp Techniques, Nonsynaptic plasticity, Mice, Transgenic, Biology, Hippocampus, Methylation, Craniofacial Abnormalities, Histones, 03 medical and health sciences, Homeostatic plasticity, Intellectual Disability, Neuroplasticity, Metaplasticity, Histone methylation, Animals, Homeostasis, Molecular Biology, Synaptic scaling, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Neuronal Plasticity, General Neuroscience, Brain-Derived Neurotrophic Factor, Histone-Lysine N-Methyltransferase, 030104 developmental biology, Synaptic fatigue, Reconstructive and regenerative medicine Radboud Institute for Molecular Life Sciences [Radboudumc 10], Synaptic plasticity, Synapses, Molecular Developmental Biology, Chromosome Deletion, Chromosomes, Human, Pair 9, Neuroscience
وصف الملف: application/pdf
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المؤلفون: Tjitske Kleefstra, Astrid R. Oudakker, Helger G. Yntema, Erik A. Sistermans, J.H.L.M. van Bokhoven, W. Nillessen, L.B.A. de Vries, T. Romein, B.C.J. Hamel
المصدر: Clinical Genetics. 61:359-362
مصطلحات موضوعية: Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Mutation, business.industry, nutritional and metabolic diseases, Rett syndrome, medicine.disease, medicine.disease_cause, Hypotonia, nervous system diseases, Frameshift mutation, MECP2, Developmental disorder, Neurodevelopmental disorder, mental disorders, medicine, medicine.symptom, business, Gene, Genetics (clinical)
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المؤلفون: Vera M. Kalscheuer, Roel Hordijk, Astrid R. Oudakker, Sander B. Nabuurs, B. B. A. De Vries, Annemieke Aartsma-Rus, Tjitske Kleefstra, T. van Essen, J.T. den Dunnen, Jamel Chelly, Krysta Voesenek, Ben C.J. Hamel, Ingrid E.C. Verhaart, Helger G. Yntema, Wei Chen, J.M. Hordijk-Hos, H Van Bokhoven, Hao Hu, A.P.M. de Brouwer
المصدر: European Journal of Human Genetics, 22, 4, pp. 480-5
European Journal of Human Genetics, 22(4), 480-485
European Journal of Human Genetics, 22, 480-5
European journal of human genetics
European Journal of Human Genetics, 22(4), 480-485. Nature Publishing Groupمصطلحات موضوعية: Male, Protein Conformation, X-linked intellectual disability, Muscular Dystrophies, Exon, Muscular dystrophy, Dystroglycans, Base Pairing, Cells, Cultured, Genetics (clinical), Sequence Deletion, Genetics, biology, SITE, Genetic Diseases, X-Linked, Exons, Pedigree, PCR, TRANSCRIPT, Dystrophin, Adult, EXPRESSION, musculoskeletal diseases, DUCHENNE, congenital, hereditary, and neonatal diseases and abnormalities, Genotype, Locus (genetics), Article, dystrophin, WW DOMAIN, Genetic linkage, Intellectual Disability, DMD, medicine, Humans, RNA, Messenger, Sensory disorders Radboud Institute for Molecular Life Sciences [Radboudumc 12], Aged, locus, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], BETA-DYSTROGLYCAN, LINKED MENTAL-RETARDATION, DNA, medicine.disease, Molecular biology, GENE, Genetic Loci, Mutation, MRX85, biology.protein, Creatine kinase, Lod Score, Dp71
وصف الملف: application/pdf
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المؤلفون: J. Maccraughan, Han G. Brunner, Juliana F. Mazzeu, Astrid R. Oudakker, J.H.L.M. van Bokhoven, James McGill, Angela Maria Vianna-Morgante, Carla Rosenberg, Ana Cristina Victorino Krepischi, Karoly Szuhai
المصدر: Clinical Genetics, 77, 404-7
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Clinical Genetics, 77(4), 404-407
Clinical Genetics, 77, 4, pp. 404-7مصطلحات موضوعية: Male, DOENÇAS GENÉTICAS, Genetics and epigenetic pathways of disease [NCMLS 6], congenital diaphragmatic-hernia microdeletion syndrome corpus-callosum critical region gene translocation mutation family locus ror2, Biology, Genomic disorders and inherited multi-system disorders [IGMD 3], Genetics, medicine, Humans, Abnormalities, Multiple, Child, Genetics (clinical), Genes, Dominant, Infant, Chromosome Breakage, Syndrome, medicine.disease, Osteochondrodysplasia, Robinow syndrome, Radiography, Chromosomes, Human, Pair 1, Child, Preschool, Female, Chromosome Deletion, Functional Neurogenomics [DCN 2]
وصف الملف: application/pdf
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المؤلفون: Charles E. Schwartz, Claude Moraine, Michael R. Stratton, Darien Lugtenberg, Ben C.J. Hamel, Jozef Gecz, Astrid R. Oudakker, Hans-Hilger Ropers, Reinhard Ullmann, Ralph Pfundt, Annabel Whibley, Jeroen Knijnenburg, Susanne Kjaergaard, Janneke H M Schuurs-Hoeijmakers, Luiz Zangrande-Vieira, Carla Rosenberg, Jayne Y. Hehir-Kwa, Mariken Ruiter, Fernanda Sarquis Jehee, Joris A. Veltman, Jamel Chelly, Arjan P.M. de Brouwer, Hans van Bokhoven, Guido Froyen, Maria Kirchhoff, F. Lucy Raymond, Tjitske Kleefstra, Angela Maria Vianna-Morgante, Sarina G. Kant, Terry Vrijenhoek
المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
American Journal of Medical Genetics Part A, 152A(3), 638-645
American Journal of Medical Genetics. Part A, 152A, 3, pp. 638-45
American Journal of Medical Genetics. Part A, 152A, 638-45مصطلحات موضوعية: Male, RETARDO MENTAL, Genetics and epigenetic pathways of disease [NCMLS 6], Gene Dosage, Non-allelic homologous recombination, Biology, Gene dosage, Cohort Studies, Genomic disorders and inherited multi-system disorders [IGMD 3], mental retardation ZNF630 non-allelic homologous recombination Xp11 zinc finger cluster copy number variation array-cgh gene mutations genome mouse children regions pcr, Gene Duplication, Intellectual Disability, Gene cluster, Gene duplication, Genetics, medicine, Humans, Copy-number variation, Genetics (clinical), Segmental duplication, Recombination, Genetic, Chromosomes, Human, X, Comparative Genomic Hybridization, Breakpoint, Chromosome Mapping, medicine.disease, Pedigree, Repressor Proteins, Developmental disorder, Phenotype, Case-Control Studies, Mental Retardation, X-Linked, Female, Functional Neurogenomics [DCN 2], Gene Deletion
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المؤلفون: Rolph Pfundt, Arjan P.M. de Brouwer, Hans van Bokhoven, Ben C.J. Hamel, Astrid R. Oudakker, Ernie M.H.F. Bongers, Dorien Lugtenberg
المصدر: American Journal of Medical Genetics. Part A, 149A, 4, pp. 760-6
American Journal of Medical Genetics. Part A, 149A, 760-6مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, X-linked Nuclear Protein, Genetics and epigenetic pathways of disease [NCMLS 6], Gene Dosage, Aneuploidy, Biology, Genitalia, Male, Short stature, Gene dosage, Polymerase Chain Reaction, Genomic disorders and inherited multi-system disorders [IGMD 3], Craniofacial Abnormalities, Gene Duplication, Gene duplication, Genetics, medicine, Humans, Abnormalities, Multiple, Genetics (clinical), ATRX, DNA Primers, Chromosomes, Human, X, Comparative Genomic Hybridization, Base Sequence, DNA Helicases, Nuclear Proteins, medicine.disease, Phenotype, Developmental disorder, Mental Retardation, X-Linked, medicine.symptom, Functional Neurogenomics [DCN 2], Comparative genomic hybridization
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المؤلفون: Astrid R. Oudakker, Cyril Goizet, Dorien Lugtenberg, Didier Lacombe, Ben C.J. Hamel, Jean Michel Pedespan, Hans van Bokhoven, Margriet van Kogelenberg, Helger G. Yntema, Martine Raynaud, Hubert Journel, Jamel Chelly, Gholamali Tariverdian, Tjitske Kleefstra, Hilde Van Esch, Jozef Gecz, Arjan P.M. de Brouwer, Bernard Echenne, Dietz Rating, Willy M. Nillesen, Andreas Tzschach, Mary D. King, Andrew Green, Declan O'Rourke
المصدر: European Journal of Human Genetics, 17, 444-53
European Journal of Human Genetics, 17, 4, pp. 444-53مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Ataxia, Genetics and epigenetic pathways of disease [NCMLS 6], Adolescent, Methyl-CpG-Binding Protein 2, MECP2 duplication syndrome, Encephalopathy, Article, MECP2, Genomic disorders and inherited multi-system disorders [IGMD 3], Cohort Studies, Structural variation, Young Adult, Gene Duplication, Gene duplication, Genetics, medicine, Humans, Family, Child, Genetics (clinical), Cerebral atrophy, Brain Diseases, Chromosomes, Human, X, business.industry, Genetic Variation, medicine.disease, Human genetics, Hypotonia, Xq28, nervous system diseases, Male patient, Mental Retardation, X-Linked, Progressive spasticity, Etiology, Female, medicine.symptom, Corrigendum, business, Functional Neurogenomics [DCN 2]
وصف الملف: application/pdf
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المؤلفون: Stéphane Viville, Jan A.M. Kremer, Anne-Sophie Jaeger, Nicolas Charlet, Céline Moutou, Herman Tournaye, Isabelle Koscinski, Hans van Bokhoven, Anika H.D.M. Dam, Clotilde Lagier-Tourenne, Astrid R. Oudakker
المساهمون: Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Department of Embryology and Genetics
المصدر: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2007, 81 (4), pp.813-20. ⟨10.1086/521314⟩
American Journal of Human Genetics, 81, 4, pp. 813-20
American Journal of Human Genetics, 81, 813-20مصطلحات موضوعية: Male, Genetics and epigenetic pathways of disease [NCMLS 6], Spermiogenesis, Vesicular Transport Proteins, MESH: Amino Acid Sequence, Teratozoospermia, MESH: Base Sequence, globozoospermia, male infertility, Male infertility, 0302 clinical medicine, Genetics(clinical), Genetics (clinical), Genetics, 0303 health sciences, 030219 obstetrics & reproductive medicine, MESH: Polymorphism, Single Nucleotide, Homozygote, MESH: Spermatozoa, MESH: DNA, Phenotype, Spermatozoa, Pedigree, Mutation (genetic algorithm), Female, Functional Neurogenomics [DCN 2], MESH: Spermatogenesis, MESH: Homozygote, MESH: Mutation, MESH: Pedigree, Biology, MESH: Infertility, Male, Polymorphism, Single Nucleotide, 03 medical and health sciences, Report, MESH: Homeodomain Proteins, medicine, Humans, Amino Acid Sequence, Acrosome, Spermatogenesis, Gene, Globozoospermia, Infertility, Male, 030304 developmental biology, Homeodomain Proteins, MESH: Humans, Base Sequence, Endocrinology and reproduction [UMCN 5.2], [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, DNA, MESH: Haplotypes, medicine.disease, MESH: Male, Human Reproduction [NCEBP 12], Genetic defects of metabolism [UMCN 5.1], Haplotypes, Mutation, MESH: Female
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المؤلفون: Laetitia Castelnau, Astrid R. Oudakker, Hans-Hilger Ropers, Thierry Bienvenu, Steffen Lenzner, Andreas W. Kuss, Guy Froyen, Nathalie Ronce, Jamel Chelly, Lars Riff Jensen, Arjan P.M. de Brouwer, Yoann Saillour, Hilde Van Esch, Tjitske Kleefstra, Jean-Pierre Fryns, Cherif Beldjord, Bert B.A. de Vries, Gillian Turner, Hans van Bokhoven, Ben C.J. Hamel, Helger G. Yntema, Martine Raynaud, Dorien Lugtenberg, Marie-Pierre Moizard, Vincent des Portes, Vera M. Kalscheuer, Claude Moraine, Jozef Gecz, Anissa Bensalem, Tod Fullston, Karine Poirier, Andreas Tzschach, S Frints
المساهمون: 849 Department of Human Genetics, Radboud University Medical Center [Nijmegen], Human Molecular Genetics, Center for Human Genetics, Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), Université Paris Descartes - Paris 5 (UPD5), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de biochimie et génétique moléculaire, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5), University Hospital, Laboratoire sur le langage, le cerveau et la cognition (L2C2), École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Department of Psychiatry, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Cochin [AP-HP]-Université Paris Descartes - Paris 5 (UPD5), École normale supérieure - Lyon (ENS Lyon)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Catholic University of Leuven ( KU Leuven ), Université Paris Descartes - Paris 5 ( UPD5 ), Institut Cochin ( UM3 (UMR 8104 / U1016) ), 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)-CHU Cochin [AP-HP]-Université Paris Descartes - Paris 5 ( UPD5 ), Laboratoire sur le langage, le cerveau et la cognition ( L2C2 ), École normale supérieure - Lyon ( ENS Lyon ) -Université Claude Bernard Lyon 1 ( UCBL ), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique ( CNRS )
المصدر: Human Mutation
Human Mutation, Wiley, 2007, 28 (2), pp.207-8. ⟨10.1002/humu.9482⟩
Human Mutation, 28, 207-8
Human Mutation, 2007, 28 (2), pp.207-8. ⟨10.1002/humu.9482⟩
Human Mutation, Wiley, 2007, 28 (2), pp.207-8. 〈10.1002/humu.9482〉
Human Mutation, 28, 2, pp. 207-8مصطلحات موضوعية: Male, Proband, congenital, hereditary, and neonatal diseases and abnormalities, Genetics and epigenetic pathways of disease [NCMLS 6], DNA Mutational Analysis, Biology, Bioinformatics, Genomic disorders and inherited multi-system disorders [IGMD 3], Cohort Studies, 03 medical and health sciences, Obligate carrier, Genetics, Humans, Mutation frequency, Gene, Genetics (clinical), X chromosome, 030304 developmental biology, 0303 health sciences, [SCCO.NEUR]Cognitive science/Neuroscience, 030305 genetics & heredity, Phenotype, Genetic defects of metabolism [UMCN 5.1], Genes, [ SCCO.NEUR ] Cognitive science/Neuroscience, Mutation, Mutation (genetic algorithm), Cohort, Mental Retardation, X-Linked, Female, Lod Score, Functional Neurogenomics [DCN 2]
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المؤلفون: A.P.M. de Brouwer, Suzanna G.M. Frints, Claude Moraine, Astrid R. Oudakker, Joris A. Veltman, Ctrm Schrander-Stumpel, Dorien Lugtenberg, B. B. A. De Vries, Helger G. Yntema, Tjitske Kleefstra, H Van Bokhoven, Gillian M. Turner, Jamel Chelly, Jean-Pierre Fryns, Lars Riff Jensen, B.C.J. Hamel
المصدر: Journal of Medical Genetics, 43, 4, pp. 362-70
Journal of Medical Genetics, 43, 362-70مصطلحات موضوعية: Male, Genetics and epigenetic pathways of disease [NCMLS 6], Copy number analysis, Biology, Sensitivity and Specificity, Genomic disorders and inherited multi-system disorders [IGMD 3], Cognitive neurosciences [UMCN 3.2], Translational research [ONCOL 3], Gene duplication, Genetics, Humans, Multiplex ligation-dependent probe amplification, Copy-number variation, Genetics (clinical), X chromosome, Oligonucleotide Array Sequence Analysis, Chromosome Aberrations, Bacterial artificial chromosome, Polymorphism, Genetic, Genome, Human, Xq28, Haplotypes, Mental Retardation, X-Linked, Original Article, Female, Human genome, Functional Neurogenomics [DCN 2]
وصف الملف: application/pdf
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المؤلفون: Willy M. Nillesen, Valérie Cormier-Daire, Ben C.J. Hamel, Hans van Bokhoven, Han G. Brunner, Bert B.A. de Vries, Alex Magee, Tjitske Kleefstra, Jean Pierre Fryns, Hilde Van Esch, Erik A. Sistermans, David Geneviève, Jeanne Amiel, Astrid R. Oudakker
المساهمون: Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D)
المصدر: American journal of human genetics, 79(2), 370-377. Cell Press
Kleefstra, T, Brunner, H G, Amiel, J, Oudakker, A R, Nillesen, W M, Magee, A, Geneviève, D, Cormier-Daire, V, Van Esch, H, Fryns, J P, Hamel, B C J, Sistermans, E A, De Vries, B B A & Van Bokhoven, H 2006, ' Loss-of-function mutations in Euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome ', American journal of human genetics, vol. 79, no. 2, pp. 370-377 . https://doi.org/10.1086/505693
American Journal of Human Genetics, 79, 2, pp. 370-7
American Journal of Human Genetics, 79, 370-7مصطلحات موضوعية: Adult, Male, Genetics and epigenetic pathways of disease [NCMLS 6], Adolescent, EHMT1 Gene, Nonsense mutation, Molecular Sequence Data, Biology, Frameshift mutation, Genomic disorders and inherited multi-system disorders [IGMD 3], EHMT1, Cognitive neurosciences [UMCN 3.2], Report, Macroglossia, medicine, Genetics, Humans, Abnormalities, Multiple, Genetics(clinical), Hypertelorism, Child, Genetics (clinical), Kleefstra Syndrome, Infant, Newborn, Infant, Histone-Lysine N-Methyltransferase, Methyltransferases, Syndrome, Molecular biology, Pedigree, Child, Preschool, Mutation, Female, medicine.symptom, Chromosome Deletion, Haploinsufficiency, Chromosomes, Human, Pair 9, Functional Neurogenomics [DCN 2]
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المؤلفون: Martijn J.G. Banning, A.P.M. de Brouwer, J. P. Fryns, H Van Esch, Diederik R.H. de Bruijn, Helger G Yntema, Astrid R. Oudakker, Willy M. Nillesen, B.C.J. Hamel, H.G. Brunner, Tjitske Kleefstra, J.H.L.M. van Bokhoven, Erik A. Sistermans, Marten P. Smidt, L.B.A. de Vries
المساهمون: Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D)
المصدر: Kleefstra, T, Smidt, M, Banning, M J G, Oudakker, A R, Van Esch, H, De Brouwer, A P M, Nillesen, W, Sistermans, E A, Hamel, B C J, De Bruijn, D, Fryns, J P, Yntema, H G, Brunner, H G, De Vries, B B A & Van Bokhoven, H 2005, ' Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome ', Journal of Medical Genetics, vol. 42, no. 4, pp. 299-306 . https://doi.org/10.1136/jmg.2004.028464
Journal of Medical Genetics, 42, 299-306
Journal of Medical Genetics, 42, 4, pp. 299-306
Journal of Medical Genetics, 42(4), 299-306. BMJ Publishing Groupمصطلحات موضوعية: Genetics and epigenetic pathways of disease [NCMLS 6], Chromosomal translocation, Chromosome 9, Biology, Translocation, Genetic, Genomic disorders and inherited multi-system disorders [IGMD 3], Histone H3, EHMT1, Mice, Intellectual Disability, Genetics, medicine, Animals, Humans, Abnormalities, Multiple, Hypertelorism, Genetics (clinical), Kleefstra Syndrome, Expressed Sequence Tags, Histone-Lysine N-Methyltransferase, Methyltransferases, Syndrome, Telomere, Molecular biology, Null allele, Phenotype, Genetic defects of metabolism [UMCN 5.1], Female, Original Article, medicine.symptom, Chromosome Deletion, Haploinsufficiency, Chromosomes, Human, Pair 9, Functional Neurogenomics [DCN 2]
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