المؤلفون: C Tan, Jozef Gecz, Paul Q. Thomas, Sandra Piltz, Thu-Hien To, Lachlan A. Jolly, Claire C. Homan, Mark A. Corbett, Stephen Pederson, Ernst J. Wolvetang

المساهمون: Homan, Claire C, Pederson, Stephen, To, Thu-Hien, Tan, Chuan, Piltz, Sandra, Corbett, Mark A, Wolvetang, Ernst, Thomas, Paul Q, Jolly, Lachlan A, Gecz, Jozef

المصدر: Neurobiology of Disease, Vol 116, Iss, Pp 106-119 (2018)

مصطلحات موضوعية: Male, 0301 basic medicine, PCDH19, Neural stem and progenitor cells, induced pluripotent stem cells, Neurogenesis, Mutant, Protocadherin, Biology, medicine.disease_cause, lcsh:RC321-571, Transcriptome, Mice, 03 medical and health sciences, Neural Stem Cells, medicine, Animals, Cluster Analysis, Humans, polarity, Progenitor cell, Induced pluripotent stem cell, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Cells, Cultured, Mice, Knockout, Mutation, Epilepsy, Polarity, Wild type, Cadherins, Protocadherins, Cell biology, neurogenesis, Induced pluripotent stem cells, 030104 developmental biology, Neurology, epilepsy, Female, neural stem and progenitor cells

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9855de95422b92db2ddf1ffea00cba43Test
http://www.sciencedirect.com/science/article/pii/S0969996118301426Test

المؤلفون: Stefka, Mincheva-Tasheva, Alvaro F, Nieto Guil, Claire C, Homan, Jozef, Gecz, Paul Q, Thomas

المصدر: Molecular neurobiology. 58(5)

مصطلحات موضوعية: Mice, Knockout, Heterozygote, Mice, Epilepsy, Mosaicism, Mutation, Synapses, Animals, Nerve Net, Cadherins, Axons, Protocadherins

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::3a77c65239aefd7899cb7aa639e06638Test
https://pubmed.ncbi.nlm.nih.gov/33411240Test

المؤلفون: Jozef Gecz, Irma Järvelä, Claire C. Homan, Matilda R. Jackson, Marie Shaw, Alison Gardner, Monica H. N. Thai, Maria Arvio, Laura Määttänen, Cheryl Shoubridge, Karagh E. Loring

المساهمون: HYKS erva, Päijät-Häme Welfare Consortium, Irma Järvelä / Principal Investigator, University Management, Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Jackson, Matilda R, Loring, Karagh E, Homan, Claire C, Thai, Monica HN, Määttänen, Laura, Arvio, Maria, Jarvela, Irma, Shaw, Marie, Gardner, Alison, Gecz, Jozef, Shoubridge, Cheryl

المصدر: Life Science Alliance

مصطلحات موضوعية: 0301 basic medicine, Male, Health, Toxicology and Mutagenesis, Loss of Heterozygosity, Plant Science, 030105 genetics & heredity, medicine.disease_cause, Loss of heterozygosity, Mice, POSTSYNAPTIC DENSITY, OF-FUNCTION MUTATIONS, Intellectual disability, Guanine Nucleotide Exchange Factors, Receptor, DNA METHYLATION, Research Articles, Mice, Knockout, Mutation, Ecology, ADP-Ribosylation Factors, Brain, Middle Aged, Phenotype, Pedigree, RECEPTORS, intellectual disability, NEURAL INFORMATION, Female, Research Article, medicine.medical_specialty, Nerve Tissue Proteins, Biochemistry, Genetics and Molecular Biology (miscellaneous), 03 medical and health sciences, Seizures, Internal medicine, Intellectual Disability, IQSEC2, medicine, Animals, Humans, Autistic Disorder, Gene, Loss function, Aged, business.industry, IQSEC2 protein, medicine.disease, NUCLEOTIDE EXCHANGE FACTOR, Mice, Inbred C57BL, Disease Models, Animal, 030104 developmental biology, Endocrinology, DE-NOVO MUTATIONS, ADP-Ribosylation Factor 6, 3111 Biomedicine, business, Neurocognitive, GENERATION

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd3c1afc5aedcc92c63574433a85b540Test
http://urn.fi/urn:nbn:fi-fe202003279473Test

المؤلفون: Lachlan A. Jolly, F. Lucy Raymond, Eric Haan, Lam Son Nguyen, Raman Kumar, Claire C. Homan, Jozef Gecz, Fatima Abidi, Martine Raynaud, Charles E. Schwartz, Stephen A. Wood

المساهمون: Homan, Claire C, Kumar, Raman, Nguyen, Lam Son, Haan, Eric, Raymond, F Lucy, Abidi, Fatima, Raynaud, Martine, Schwartz, Charles E, Wood, Stephen A, Gecz, Jozef, Jolly, Lachlan A

المصدر: The American Journal of Human Genetics. 94:470-478

مصطلحات موضوعية: Male, Proband, Time Factors, X-linked intellectual disability, Neurogenesis, Mutation, Missense, USP9X, Biology, medicine.disease_cause, Mice, 03 medical and health sciences, 0302 clinical medicine, Cell Movement, Genes, X-Linked, Report, Intellectual Disability, Genetics, medicine, Animals, Humans, Genetics(clinical), Gene, Cytoskeleton, Genetics (clinical), X chromosome, Loss function, Cell Proliferation, 030304 developmental biology, Family Health, Mice, Knockout, Neurons, Chromosomes, Human, X, 0303 health sciences, Mutation, disease-associated DNA variants, Genetic Variation, medicine.disease, Phenotype, DNA-Binding Proteins, intellectual disability, Knockout mouse, Female, Ubiquitin Thiolesterase, 030217 neurology & neurosurgery, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a3f32999e346f99439ef2169ded2c5cTest
https://doi.org/10.1016/j.ajhg.2014.02.004Test

المؤلفون: Bernhard T. Baune, Daniel T. Pederick, Jozef Gecz, Sandra Piltz, James N. Hughes, Emily J. Jaehne, Paul Q. Thomas, Bryan P. Haines, Lachlan A. Jolly, Claire C. Homan

المساهمون: Pederick, Daniel T, Homan, Claire C, Jaehne, Emily J, Piltz, Sandra G, Haines, Bryan P, Baune, Bernhard T, Jolly, Lachlan A, Hughes, James N, Gecz, Jozef, Thomas, Paul Q

المصدر: Scientific Reports

مصطلحات موضوعية: 0301 basic medicine, Male, Genotype, Central nervous system, Protocadherin, brain development, Protocadherin 19 (Pcdh19), Biology, Hippocampus, Article, 03 medical and health sciences, Mice, 0302 clinical medicine, Neural Stem Cells, Cell Movement, parasitic diseases, Null cell, medicine, Animals, Humans, Loss function, Cells, Cultured, Genetics, Mice, Knockout, Neurons, Multidisciplinary, Epilepsy, Brain, Cadherins, Phenotype, Null allele, Neural stem cell, Protocadherins, Cell biology, 030104 developmental biology, medicine.anatomical_structure, Synapses, Axon guidance, Female, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::995e32598731ef9e5fe641271aa80c82Test

المؤلفون: M. L. Ackland, Peter D. Zalewski, S. Lester, Sandra Hodge, Chiara Murgia, Claire C. Homan, Hubertus Jersmann, Violet Mukaro, Rhys Hamon, Mariea Dencey Bosco, Eugene Roscioli, Hai B. Tran, Carol J. Lang

المساهمون: Hamon, Rhys, Homan, Claire C, Tran, Hai B, Mukaro, Violet R, Lester, Susan E, Roscioli, Eugene, Bosco, Mariea D, Murgia, Chiara M, Ackland, Margaret Leigh, Jersmann, Hubertus P, Lang, Carol, Zalewski, Peter D, Hodge, Sandra J

المصدر: PLoS ONE, Vol 9, Iss 10, p e110056 (2014)
PLoS ONE

مصطلحات موضوعية: Necrosis, Pulmonology, Gene Expression, lcsh:Medicine, Apoptosis, Mice, Pulmonary Disease, Chronic Obstructive, Cytosol, Medicine and Health Sciences, zinc deficiency, Macrophage, chronic obstructive pulmonary disease (COPD), lcsh:Science, Cation Transport Proteins, Mice, Knockout, Multidisciplinary, Cell Death, Nutritional Deficiencies, zinc, Ethylenediamines, Zinc, Cell Processes, Micronutrient Deficiencies, Female, medicine.symptom, Bronchoalveolar Lavage Fluid, Research Article, medicine.medical_specialty, Substance-Related Disorders, Chronic Obstructive Pulmonary Disease, Phagocytosis, Immunology, chemistry.chemical_element, Inflammation, Biology, Cell Line, Internal medicine, Mental Health and Psychiatry, Macrophages, Alveolar, medicine, Animals, Humans, Efferocytosis, Nutrition, Macrophages, lcsh:R, Biology and Life Sciences, Smoking Related Disorders, Cell Biology, Nutrients, medicine.disease, Asthma, Disease Models, Animal, Endocrinology, chemistry, Zinc deficiency, Clinical Immunology, lcsh:Q, Carrier Proteins, Pulmonary Immunology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::902a7da11184664fd4cab10f475955b1Test
http://europepmc.org/articles/PMC4211649?pdf=renderTest

المؤلفون: Simon C. Barry, Jozef Gecz, Claire C. Homan, Reuben Jacob, Lachlan A. Jolly

المساهمون: Jolly, Lachlan A, Homan, Claire C, Jacob, Reuben, Barry, Simon, Gecz, Jozef

المصدر: Human molecular genetics. 22(23)

مصطلحات موضوعية: hippocampus, Cellular differentiation, Nonsense-mediated decay, neurons, medicine.disease_cause, neural development, Mice, Neural Stem Cells, rna, genetics, genes, adult attention deficit hyperactivity disorder, cell count, Genetics (clinical), Cells, Cultured, Regulation of gene expression, Neurons, child, Mutation, Neurogenesis, Brain, Gene Expression Regulation, Developmental, RNA-Binding Proteins, Cell Differentiation, General Medicine, intellectual disability, Organ Specificity, Female, Neural development, Signal Transduction, phenotype, Mice, Transgenic, Biology, attention-deficit/hyperactivity disorder, stem cells, Intellectual Disability, Genetics, medicine, Animals, Humans, Progenitor cell, Autistic Disorder, Molecular Biology, medicine.disease, Nonsense Mediated mRNA Decay, messenger, schizophrenia, nonsense, Autism, autistic disorder, neuronal outgrowth, mutation, codon, Neuroscience, Schizophrenia, Childhood, telencephalon

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a951fba2ef52cb7231933b0b7b07b25dTest
https://pubmed.ncbi.nlm.nih.gov/23821644Test