المؤلفون: Ming Xiao, Lahari Uppuluri, Beverly S. Emanuel, Donna M. McDonald-McGinn, Daniel E. McGinn, Deanne Taylor, Benjamin A. Silva, T. Blaine Crowley, Michael Xie, Heba Z. Abid, Bernice E. Morrow, Steven Pastor, Elaine H. Zackai, Oanh Tran, Alice Bailey, Eleanor Young, Danielle Carrado, Andrea Jin

المصدر: Scientific Reports, Vol 10, Iss 1, Pp 1-13 (2020)
Scientific Reports

مصطلحات موضوعية: Male, 0301 basic medicine, Chromosomes, Human, Pair 22, Non-allelic homologous recombination, lcsh:Medicine, Biology, Genome informatics, Article, 03 medical and health sciences, Segmental Duplications, Genomic, 0302 clinical medicine, DiGeorge Syndrome, Humans, Homologous Recombination, lcsh:Science, Gene, Alleles, Segmental duplication, Genome, Multidisciplinary, Genome, Human, Haplotype, Breakpoint, lcsh:R, Chromosome Mapping, Low copy repeats, 030104 developmental biology, Haplotypes, Evolutionary biology, 030220 oncology & carcinogenesis, Female, Human genome, lcsh:Q, Chromosome Deletion, Homologous recombination

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32c1b75f551f3d9ba05ded3008e83778Test
http://link.springer.com/article/10.1038/s41598-020-69134-4Test

المؤلفون: Sue J. Noy, Elizabeth M. C. Fisher, Laura J. Pulford, Robert C. Wykes, Justin L. Tosh, Frances K. Wiseman, Heather T. Whittaker, Karen Cleverley, Victor L. J. Tybulewicz, Paige Mumford, Elena R. Rhymes, Matthew C. Walker

المصدر: LonDownS Consortium 2021, ' Genetic dissection of down syndrome-associated alterations in APP/amyloid-β biology using mouse models ', Scientific Reports, vol. 11, no. 1, 5736, pp. 5736 . https://doi.org/10.1038/s41598-021-85062-3Test
Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)

مصطلحات موضوعية: Protein-Arginine N-Methyltransferases, Genetics of the nervous system, Disease, Transgenic Model, Amyloid beta-Protein Precursor, Mice, Segmental Duplications, Genomic, 0302 clinical medicine, Amyloid precursor protein, Transgenes, Genetics, Genetic dissection, 0303 health sciences, Multidisciplinary, Genetic interaction, Neurodegenerative diseases, Neurodevelopmental disorders, Brain, Publisher Correction, 3. Good health, Phenotype, Genetic linkage study, Medicine, Down syndrome, Science, Mice, Transgenic, Biology, Article, Protein Aggregates, 03 medical and health sciences, LonDownS Consortium, Alzheimer Disease, Seizures, mental disorders, medicine, Animals, Beta (finance), Gene, 030304 developmental biology, Amyloid beta-Peptides, Phosphotransferases, medicine.disease, Chromosomes, Mammalian, Survival Analysis, Disease Models, Animal, Solubility, biology.protein, Diseases of the nervous system, Down Syndrome, Trisomy, Chromosome 21, 030217 neurology & neurosurgery, Neuroscience

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f83a4e1ba0ab588ff5b0683fcd3d75dTest
http://hdl.handle.net/10044/1/88295Test

المؤلفون: Peng-Hao Shi, Ping-Li Liu, Jianbo Xie, Meng Yu, Yuan Huang, Lu-Lu Xie

المصدر: Scientific Reports, Vol 8, Iss 1, Pp 1-14 (2018)
Scientific Reports

مصطلحات موضوعية: 0301 basic medicine, Protein domain, Plant Development, lcsh:Medicine, Biology, Genome, Article, 03 medical and health sciences, Segmental Duplications, Genomic, Gene Expression Regulation, Plant, Phylogenetics, Gene Duplication, Lectins, Gene duplication, Gene family, Amino Acid Sequence, lcsh:Science, Gene, Phylogeny, Plant Proteins, Segmental duplication, Genetics, Multidisciplinary, Arabidopsis Proteins, lcsh:R, 030104 developmental biology, Multigene Family, Receptors, Mitogen, lcsh:Q, Soybeans, Tandem exon duplication, Protein Kinases

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3af18d0f9838f6837015fdf3f0a55e8Test
http://link.springer.com/article/10.1038/s41598-018-24266-6Test

المؤلفون: Ingrid T J Siegelaer, Eric Smeets, Eveline W Blom, Servi J. C. Stevens

المساهمون: RS: GROW - Developmental Biology, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA Pat Cytologie (9), MUMC+: DA KG Polikliniek (9)

المصدر: European Journal of Human Genetics, 23(4), 543-546. Nature Publishing Group

مصطلحات موضوعية: Male, Adolescent, DNA Copy Number Variations, Developmental Disabilities, Short Report, Nerve Tissue Proteins, Biology, Segmental Duplications, Genomic, Intellectual Disability, Genetics, Homologous chromosome, Humans, Allele, Homologous Recombination, Gene, Genetics (clinical), Alleles, Segmental duplication, Oligonucleotide Array Sequence Analysis, Sequence Deletion, Breakpoint, Chromosome, Membrane Proteins, Membrane Transport Proteins, Molecular biology, Phenotype, Child, Preschool, Chromosomes, Human, Pair 2, Female, Homologous recombination, alpha Catenin, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8e21ced99593ccda6fc045a916fe202Test
https://cris.maastrichtuniversity.nl/en/publications/eedf4ba4-392e-4956-878b-27202cd27ea7Test

المؤلفون: Roberto Giorda, Silvana Beri, Maria Clara Bonaglia

مصطلحات موضوعية: Male, Karyotype, Genome-wide association study, Chromosome Disorders, Biology, Article, Segmental Duplications, Genomic, Gene duplication, Genetics, Humans, Genetic Predisposition to Disease, Genetic Testing, Genetics (clinical), Segmental duplication, Chromosomal inversion, Gene Rearrangement, Genome, Human, Gene rearrangement, Low copy repeats, Child, Preschool, Chromosome Inversion, Receptors, Vasoactive Intestinal Peptide, Type II, Human genome, Female, Chromosomes, Human, Pair 7, VIPR2, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4391b7a6fd5ae4f372a6df33c3445d6bTest
https://europepmc.org/articles/PMC3722940Test/

المؤلفون: C. Van Broeckhoven, C. Van Cauwenberghe, P. Amouyel, Kristel Sleegers, Karolien Bettens, A Gil Montoya, J-C Lambert, P.P. De Deyn, Maria Mattheijssens, Florence Pasquier, N Le Bastard, Nathalie Brouwers, S. Engelborghs, Rik Vandenberghe, K. Peeters, Marc Cruts

المساهمون: Faculty of Psychology and Educational Sciences, Clinical sciences, Neuroprotection & Neuromodulation, Neurology

المصدر: Molecular psychiatry
Molecular Psychiatry

مصطلحات موضوعية: Apolipoprotein E, Male, DNA Copy Number Variations, Genotype, Complement receptor 1, Apolipoprotein E4, Single-nucleotide polymorphism, Genome-wide association study, tau Proteins, Complement factor I, GENETIC RISK, Polymorphism, Single Nucleotide, Cohort Studies, Cellular and Molecular Neuroscience, Segmental Duplications, Genomic, Complement Receptor Type 1, Gene Frequency, Meta-Analysis as Topic, Alzheimer Disease, Odds Ratio, Humans, Molecular Biology, Biology, Aged, Genetics, Aged, 80 and over, Medicine(all), Amyloid beta-Peptides, biology, β-amyloid, Haplotype, beta-amyloid, biomarkers, Odds ratio, Alzheimer's disease, Peptide Fragments, Copy Number Variation, Receptors, Complement, Psychiatry and Mental health, Chemistry, Logistic Models, Complement Factor I, Female, Original Article, Human medicine, biology.gene, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c507edfb18b90b73f55a98b371743d7Test
https://biblio.vub.ac.be/vubir/alzheimer-risk-associated-with-a-copy-number-variation-in-the-complement-receptor-1-increasing-c3bc4b-binding-sitesTest(9712c99b-e17a-4a70-a72b-61ef1a5ccdbc).html

المؤلفون: Fernando Scaglia, Patricia A. Eng, Pawel Stankiewicz, Sharon E. Plon, Sandesh C.S. Nagamani, Patricia I. Bader, Tyler Reimschisel, Seema R. Lalani, Amy D. Malphrus, Daryl A. Scott, Elizabeth Roeder, Chun Hui Tsai, Ayelet Erez, Ankita Patel, Sung Hae L. Kang, Sau Wai Cheung, Patricia Hixson

المساهمون: University of Groningen

المصدر: European Journal of Human Genetics, 19(3), 280-286. Nature Publishing Group

مصطلحات موضوعية: Male, Microcephaly, congenital, hereditary, and neonatal diseases and abnormalities, SYNDROME REGION, MICRODELETION SYNDROME, Developmental Disabilities, CNV, Biology, Article, Cohort Studies, Segmental Duplications, Genomic, DUPLICATIONS, Gene duplication, mental disorders, Chromosome Duplication, Genetics, medicine, HUMAN GENOME, Humans, PREDISPOSE, Abnormalities, Multiple, RECURRENT, Copy-number variation, Child, Genetics (clinical), cognitive impairment, Segmental duplication, SPECTRUM, Comparative Genomic Hybridization, DEVELOPMENTAL DELAY, Polydactyly, Infant, Low copy repeats, Microdeletion syndrome, medicine.disease, 16p13.11, DELETIONS, Phenotype, Female, Chromosome Deletion, behavioral abnormality, MENTAL-RETARDATION, Chromosomes, Human, Pair 16, Comparative genomic hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::217f634c941f608e6c4e473ae5bab770Test
https://europepmc.org/articles/PMC3061988Test/