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المؤلفون: Timour Baslan, John P. Morris, Zhen Zhao, Jose Reyes, Yu-Jui Ho, Kaloyan M. Tsanov, Jonathan Bermeo, Sha Tian, Sean Zhang, Gokce Askan, Aslihan Yavas, Nicolas Lecomte, Amanda Erakky, Anna M. Varghese, Amy Zhang, Jude Kendall, Elena Ghiban, Lubomir Chorbadjiev, Jie Wu, Nevenka Dimitrova, Kalyani Chadalavada, Gouri J. Nanjangud, Chaitanya Bandlamudi, Yixiao Gong, Mark T. A. Donoghue, Nicholas D. Socci, Alex Krasnitz, Faiyaz Notta, Steve D. Leach, Christine A. Iacobuzio-Donahue, Scott W. Lowe
المصدر: Nature. 608:795-802
مصطلحات موضوعية: Genome, Multidisciplinary, Models, Genetic, Carcinogenesis, Loss of Heterozygosity, Adenocarcinoma, Genes, p53, Evolution, Molecular, Pancreatic Neoplasms, Mice, Disease Progression, Animals, Tumor Suppressor Protein p53, Gene Deletion, Carcinoma, Pancreatic Ductal
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2
المؤلفون: Niamh M, Ryan, Jayon, Lihm, Melissa, Kramer, Shane, McCarthy, Stewart W, Morris, Aleix, Arnau-Soler, Gail, Davies, Barbara, Duff, Elena, Ghiban, Caroline, Hayward, Ian J, Deary, Douglas H R, Blackwood, Stephen M, Lawrie, Andrew M, McIntosh, Kathryn L, Evans, David J, Porteous, W Richard, McCombie, Pippa A, Thomson
المصدر: Molecular Psychiatry
مصطلحات موضوعية: Adult, Male, Multifactorial Inheritance, Genotype, Genetic Linkage, Receptor, Metabotropic Glutamate 5, Recombinant Fusion Proteins, Nerve Tissue Proteins, Translocation, Genetic, Gene Frequency, Contactins, Humans, Family, Genetic Predisposition to Disease, Genetic Testing, RNA, Messenger, Alleles, Mood Disorders, Mental Disorders, Genomics, Sequence Analysis, DNA, Middle Aged, Cyclic Nucleotide Phosphodiesterases, Type 4, Pedigree, Phenotype, Female, RNA, Long Noncoding, Lod Score, Immediate Communication, Genome-Wide Association Study
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المؤلفون: Jayon Lihm, Shane McCarthy, Eric Kelleher, Elena Ghiban, Carol O'Brien, Aiden Corvin, Jesse Gillis, Melissa Kramer, Rebecca Solomon, Seungtai Yoon, Paul Pavlidis, Meeta Mistry, Michael Gill, Derek W. Morris, Eric Antoniou, W R McCombie, Berstein Y, Gary Donohoe
المصدر: Molecular psychiatry
مصطلحات موضوعية: Adult, Male, Adolescent, Autism, DNA Mutational Analysis, Haploinsufficiency, Biology, Article, MECP2, De novo Mutations, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, CHD8, Intellectual Disability, Genetic variation, Intellectual disability, medicine, Humans, Exome, Family, Genetic Predisposition to Disease, Epigenetics, Autistic Disorder, Molecular Biology, Exome sequencing, 030304 developmental biology, Genetics, 0303 health sciences, Middle Aged, Chromatin Assembly and Disassembly, medicine.disease, 3. Good health, Psychiatry and Mental health, Codon, Nonsense, Mutation, Schizophrenia, Female, 030217 neurology & neurosurgery
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المؤلفون: David J. Porteous, J. Kirsty Millar, Stephen M. Lawrie, Pippa A. Thomson, Kathryn L. Evans, Jayon Lihm, W. Richard McCombie, Andrew M. McIntosh, Douglas Blackwood, Elena Ghiban, Melissa Kramer, Niamh M. Ryan, Generation Scotland, Shane McCarthy
المصدر: European Neuropsychopharmacology. 29:S890
مصطلحات موضوعية: Pharmacology, Genetics, education.field_of_study, biology, Genetic heterogeneity, Population, medicine.disease, Penetrance, Psychiatry and Mental health, DISC1, DISC2, Neurology, Schizophrenia, medicine, biology.protein, Major depressive disorder, Pharmacology (medical), Neurology (clinical), Bipolar disorder, education, Biological Psychiatry
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المؤلفون: Anthony Leotta, Steven Marks, Ivan Iossifov, Lucinda Fulton, Kith Pradhan, Peter Andrews, Linda Rodgers, Michael Wigler, Beicong Ma, Richard W. McCombie, Jennifer Troge, Elena Ghiban, Ryan Demeter, Robert S. Fulton, Julie Rosenbaum, Asya Stepansky, Vincent Magrini, Yoon-ha Lee, Kenny Ye, Jennifer Parla, Richard K. Wilson, Robert B. Darnell, Boris Yamrom, Inessa Hakker, Jennifer C. Darnell, Michael Ronemus, Michael C. Schatz, Dan Levy, Elaine R. Mardis, Zihua Wang, Giuseppe Narzisi, Melissa Kramer, Jude Kendall, Mitchell A. Bekritsky, Ewa A. Grabowska
المصدر: Neuron. 74(2):285-299
مصطلحات موضوعية: Male, Models, Molecular, Parents, Neuroscience(all), Gene Dosage, SYNGAP1, Biology, medicine.disease_cause, Gene dosage, Fragile X Mental Retardation Protein, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Missense mutation, Genetic Predisposition to Disease, Child, Gene, Genetic Association Studies, Exome sequencing, 030304 developmental biology, Family Health, Genetics, 0303 health sciences, Mutation, General Neuroscience, medicine.disease, Phenotype, Child Development Disorders, Pervasive, Child, Preschool, Autism, Female, 030217 neurology & neurosurgery
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المؤلفون: Douglas Blackwood, Melissa Kramer, Shane McCarthy, S. W. Morris, Ian J. Deary, David J. Porteous, Jianchao Yao, Jennifer Parla, James D. Watson, S Cass, Dinesh C. Soares, J. K. Millar, Andrew M. McIntosh, D Rebolini, W. R. McCombie, John M. Starr, Kathryn L. Evans, Peter M. Visscher, Donald J. MacIntyre, Sarah E. Harris, L Cardone, Pippa A. Thomson, Elena Ghiban, Allan F. McRae, William Hennah, K Ramakrishnan
المصدر: Thomson, P A, Parla, J S, McRae, A F, Kramer, M, Ramakrishnan, K, Yao, J, Soares, D C, McCarthy, S, Morris, S W, Cardone, L, Cass, S, Ghiban, E, Hennah, W, Evans, K L, Rebolini, D, Millar, J K, Harris, S E, Starr, J M, MacIntyre, D J, McIntosh, A M, Watson, J D, Deary, I J, Visscher, P M, Blackwood, D H & McCombie, W R & Porteous, D J 2014, ' 708 Common and 2010 rare DISC1 locus variants identified in 1542 subjects : analysis for association with psychiatric disorder and cognitive traits ', Molecular Psychiatry, vol. 19, no. 6, pp. 668-675 . https://doi.org/10.1038/mp.2013.68
Molecular Psychiatryمصطلحات موضوعية: Candidate gene, medicine.medical_specialty, Bipolar Disorder, DNA Mutational Analysis, Nerve Tissue Proteins, Single-nucleotide polymorphism, Biology, Bioinformatics, Polymorphism, Single Nucleotide, White People, DISC1, recurrent major depressive disorder, sequencing, 03 medical and health sciences, Cellular and Molecular Neuroscience, Cognition, 0302 clinical medicine, Gene Frequency, medicine, Humans, Family, Genetic Predisposition to Disease, Bipolar disorder, 1000 Genomes Project, Psychiatry, DISC1, Molecular Biology, Allele frequency, Exome sequencing, 030304 developmental biology, Genetic association, Genetics, Depressive Disorder, Major, 0303 health sciences, recurrent major depressive disorder, Mental Disorders, Exons, sequencing, medicine.disease, Pedigree, Minor allele frequency, Psychiatry and Mental health, Scotland, Schizophrenia, Original Article, 030217 neurology & neurosurgery
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f1092d8430871bc8d1d9a22fbb74f8d
https://www.pure.ed.ac.uk/ws/files/8303454/708_Common_and_2010_rare_DISC1_locus_variants_identified_in_1542_subjects_analysis_for_association_with_psychiatric_disorder_and_cognitive_traits.pdf -
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المؤلفون: Mark Wright, Jer Ming Chia, Elena Ghiban, Joshua C. Stein, Eric Antonio, James Gurtowski, Doreen Ware, Lyza G. Maron, Alejandro Hernandez Wences, W. Richard McCombie, Hayan Lee, Susan R. McCouch, Eric Biggers, Michael C. Schatz, Melissa Kramer
مصطلحات موضوعية: 0106 biological sciences, 2. Zero hunger, 0303 health sciences, Sequence assembly, Genomics, Computational biology, Biology, 01 natural sciences, Genome, Phenotype, Structural variation, 03 medical and health sciences, Gene, Organism, 030304 developmental biology, 010606 plant biology & botany, Reference genome
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1592922a37d093ef217a569763fa93f9
https://doi.org/10.1101/003764 -
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المؤلفون: Eric Antoniou, Lyza G. Maron, Melissa Kramer, Elena Ghiban, Eric Biggers, Alejandro Hernandez Wences, Hayan Lee, Susan R. McCouch, Doreen Ware, Mark Wright, James Gurtowski, Jer Ming Chia, Michael C. Schatz, W. Richard McCombie, Joshua C. Stein
المصدر: Genome Biology
مصطلحات موضوعية: 0106 biological sciences, Quantitative Trait Loci, Sequence assembly, Locus (genetics), Computational biology, Biology, Breeding, Genome, 01 natural sciences, DNA sequencing, Structural variation, 03 medical and health sciences, Gene, 030304 developmental biology, Genetics, Whole genome sequencing, 2. Zero hunger, 0303 health sciences, Research, Chromosome Mapping, Genetic Variation, High-Throughput Nucleotide Sequencing, Oryza, Phenotype, Sequence Alignment, Genome, Plant, Reference genome, 010606 plant biology & botany
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fcd4da662c7c6e6471b0e491431f7d1