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المؤلفون: Mariann Tihanyi, Anna Lengyel, György Fekete, Irén Haltrich, Dezső David, Kálmán Tory, Zsuzsa Tóth, Eva Pinti, Eszter Jávorszky, Éva Gönczi, Eszter Kiss, Henriett Pikó
المصدر: European journal of medical genetics. 63(10)
مصطلحات موضوعية: 0301 basic medicine, Male, Tomography Scanners, X-Ray Computed, DNA Copy Number Variations, Autism Spectrum Disorder, Developmental Disabilities, 030105 genetics & heredity, 03 medical and health sciences, Chromosome 16, Segmental Duplications, Genomic, Intellectual Disability, Genotype, Intellectual disability, Genetics, medicine, Humans, Abnormalities, Multiple, Copy-number variation, Obesity, Child, Genetics (clinical), Genetic Association Studies, In Situ Hybridization, Fluorescence, Segmental duplication, Sequence Deletion, Chromosome Aberrations, Hungary, medicine.diagnostic_test, business.industry, Chromosome, Brain, Infant, General Medicine, medicine.disease, Microarray Analysis, Magnetic Resonance Imaging, Doenças Genéticas, 030104 developmental biology, Gene Ontology, Phenotype, Child, Preschool, Autism, Female, business, Chromosomes, Human, Pair 16, Fluorescence in situ hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afaad85c76e326d8e35fa8606599cb6bTest
https://pubmed.ncbi.nlm.nih.gov/32758661Test -
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المؤلفون: Matthew S. Hestand, Ann Swillen, Elfi Vergaelen, Jeroen Breckpot, Adrian Odrzywolski, Lisanne Vervoort, Anne S. Bassett, Ania Fiksinski, Bernice E. Morrow, Laura Yissel Rengifo, Donna M. McDonald-McGinn, Vandana Shashi, Jacob A. S. Vorstman, Tracy Heung, Wolfram Demaerel, Joris Vermeesch, Janneke Zinkstok, Koen Devriendt, Eva W.C. Chow
المصدر: Hum Mol Genet
مصطلحات موضوعية: Adult, Male, Chromosomes, Human, Pair 22, Chromosome Breakpoints, Biology, Chromosomes, Article, 03 medical and health sciences, 0302 clinical medicine, Segmental Duplications, Genomic, Genetics, DiGeorge Syndrome, Humans, International 22q11.2 Brain, Allele, Homologous Recombination, Molecular Biology, Genetics (clinical), Alleles, In Situ Hybridization, Fluorescence, 030304 developmental biology, Segmental duplication, Sequence (medicine), Whole genome sequencing, 0303 health sciences, Whole Genome Sequencing, Breakpoint, Chromosome, Chromosome Mapping, General Medicine, Chromosome Inversion, Female, Chromosome Deletion, Homologous recombination, 030217 neurology & neurosurgery, Behavior Consortium
وصف الملف: Print
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39b9d251281485d3e8559478d6dd331cTest
https://pubmed.ncbi.nlm.nih.gov/31884517Test -
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المؤلفون: Klaus Heese, Pok-Son Kim, Arne Kutzner, Subrata Pramanik
المصدر: Genomics. 106:278-285
مصطلحات موضوعية: In silico, Biology, medicine.disease_cause, Segmental Duplications, Genomic, Genetics, medicine, Animals, Humans, Gene family, Computer Simulation, Epigenetics, Gene, Phylogeny, Neanderthals, Mutation, Membrane Proteins, Proteins, Chromosome, Hominidae, Genomics, SRGAP2, Neoplasm Proteins, Genes, Chromosomes, Human, Pair 1, Genetic Loci, SRGAP2 Gene, Carrier Proteins
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84e7efed6b13a7ab07aa47a4c8e72b4bTest
https://doi.org/10.1016/j.ygeno.2015.07.003Test -
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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 -
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المؤلفون: Zuqian Fan, Kegan Lao, Xunjin Weng, Shanhuo Yan, Xuehe Ye, Xinxing Liu, Ju Long, Yong-Guang Zhuo, Lei Sun, Bo Wang, Kepeng Fu
المصدر: Gene. 552:272-276
مصطلحات موضوعية: Chromosomes, Human, Pair 21, Molecular Sequence Data, Biology, Real-Time Polymerase Chain Reaction, Rapid detection, Segmental Duplications, Genomic, Pregnancy, Prenatal Diagnosis, Genetics, medicine, Humans, Gene, Segmental duplication, Base Sequence, Chromosomes, Human, Pair 11, Infant, Newborn, Chromosome, Karyotype, General Medicine, medicine.disease, Molecular biology, Quantitative Real Time PCR, Female, Down Syndrome, Trisomy, Chromosome 21
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93bcf96e5a1af5696681b38a4b9b8122Test
https://doi.org/10.1016/j.gene.2014.09.044Test -
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المؤلفون: Stuart Cantsilieris, Michele Manganelli, Andy Wing Chun Pang, Mitchell R. Vollger, Beth L. Dumont, Francesca Antonacci, Pietro Palumbo, Bradley P. Coe, Orazio Palumbo, Ashley D. Sanders, Evan E. Eichler, Pietro D'Addabbo, Flavia Angela Maria Maggiolini, Massimo Carella, Maria Accadia
المصدر: PLoS Genetics, Vol 15, Iss 3, p e1008075 (2019)
PLoS Geneticsمصطلحات موضوعية: Cancer Research, Gene Dosage, Monkeys, QH426-470, Autoantigens, Orangutans, Segmental Duplications, Genomic, 0302 clinical medicine, Chromosome instability, Phylogeny, Genetics (clinical), Chromosomal inversion, Segmental duplication, Gene Rearrangement, Recombination, Genetic, Mammals, Centromeres, 0303 health sciences, education.field_of_study, Mammalian Genomics, Chromosome Biology, Eukaryota, Hominidae, Genomics, Chromosomal Aberrations, Multigene Family, Vertebrates, Apes, Chromosomal Duplications, Macaque, Research Article, Primates, Gorillas, Chromosome Structure and Function, Population, Biology, Chromosomes, Evolution, Molecular, 03 medical and health sciences, Species Specificity, Chromosomal Instability, Old World monkeys, Centromere, Genetics, Animals, Humans, Ectopic recombination, Chimpanzees, education, Molecular Biology, Ecology, Evolution, Behavior and Systematics, 030304 developmental biology, Chromosomes, Human, Pair 15, Organisms, Genetic Variation, Golgi Matrix Proteins, Biology and Life Sciences, Chromosome, Cell Biology, Gene rearrangement, Animal Genomics, Evolutionary biology, Chromosome Inversion, Amniotes, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84985bab8ce4ac46ff4a4ffbe929c083Test
https://doi.org/10.1371/journal.pgen.1008075Test -
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المؤلفون: Soruba Sivamoorthy, Lakshmi Nagarajan, Tanya Grumball, Julian Ik-Tsen Heng, Ashleigh Murch, Joanne Peverall, Sabine Afchani, John Wray, Matthew S. Edwards, Julie Stampalia, Hamid Alinejad-Rokny, Cathy Kiraly-Borri, Jacqueline Scurlock, Hashika Rijhumal, Fiona Haslam McKenzie, Gareth Baynam, John Beilby, Kim Potts, Hannah Vanyai, Andrew J. O. Whitehouse, Fiona Taylor, Karen J. Woodward
المصدر: Molecular Genetics & Genomic Medicine
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, TBX1, Adolescent, Autism Spectrum Disorder, Chromosomes, Human, Pair 22, Developmental Disabilities, LCR22B to LCR22D, Genetic counseling, 22q11.2, Penetrance, 030105 genetics & heredity, Biology, 03 medical and health sciences, Segmental Duplications, Genomic, Chromosome Duplication, Gene duplication, DiGeorge Syndrome, Genetics, medicine, Humans, Abnormalities, Multiple, Child, Molecular Biology, central 22q11.2, Genetics (clinical), Chromosome, Syndrome, Original Articles, Low copy repeats, medicine.disease, Phenotype, Pedigree, duplication, 030104 developmental biology, atypical, Autism spectrum disorder, Child, Preschool, Female, Original Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77316d180315379f9394b871c531564dTest
https://doi.org/10.1002/mgg3.507Test -
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المؤلفون: Richard K. Wilson, Claudia Rita Catacchio, Archana Raja, Carl Baker, Stuart Cantsilieris, Katherine M. Munson, Bradley J. Nelson, Bradley P. Coe, Lana Harshman, Zev N. Kronenberg, Kiana Mohajeri, John Huddleston, Tina Graves, Milinn Kremitzki, Evan E. Eichler, Mario Ventura, Catarina D. Campbell
المصدر: Genome research. 26(11)
مصطلحات موضوعية: 0301 basic medicine, Primates, Chromosome Breakpoints, Biology, Genomic Instability, Transposition (music), Evolution, Molecular, 03 medical and health sciences, 0302 clinical medicine, Segmental Duplications, Genomic, Gene duplication, Genetics, Animals, Humans, Genetic Predisposition to Disease, Genetics (clinical), Chromosomal inversion, Segmental duplication, Research, Breakpoint, Haplotype, Chromosome, 030104 developmental biology, Chromosome Deletion, 030217 neurology & neurosurgery, Chromosomes, Human, Pair 8
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0678ac135aaee6b1c5b66a17d9894621Test
https://pubmed.ncbi.nlm.nih.gov/27803192Test -
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المؤلفون: Sarah T. South
المصدر: Clinics in Laboratory Medicine. 31:513-524
مصطلحات موضوعية: Chromosome Aberrations, Genetics, Mechanism (biology), Biochemistry (medical), Clinical Biochemistry, Chromosome, Computational biology, Biology, Polymerase Chain Reaction, Translocation, Genetic, Recurrence risk, Cytogenetics, Segmental Duplications, Genomic, Human disease, Karyotyping, Genomic architecture, Humans, Identification (biology), In Situ Hybridization, Fluorescence, Oligonucleotide Array Sequence Analysis, Comparative genomic hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa973770b0164b6db34f6726fe2d2013Test
https://doi.org/10.1016/j.cll.2011.08.010Test -
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المؤلفون: Linda Manwaring, Pawel Stankiewicz, Weihong Jin, Jeffrey R Hughes, Ankita Patel, Ping Fang, Ayman W. El-Hattab, Dorothy K. Grange, James B. Gibson, Gayle Patel, Sau Wai Cheung
المصدر: Journal of Medical Genetics. 48:840-850
مصطلحات موضوعية: Adult, Male, Adolescent, DNA Copy Number Variations, X-linked intellectual disability, Developmental Disabilities, Non-allelic homologous recombination, Sex Chromosome Disorders, Biology, Hemophilia A, X-inactivation, Segmental Duplications, Genomic, X Chromosome Inactivation, Intellectual Disability, Chromosome Duplication, Gene duplication, Genetics, medicine, Humans, Child, Homologous Recombination, In Situ Hybridization, Fluorescence, Sex Chromosome Aberrations, Genetics (clinical), Segmental duplication, Chromosomes, Human, X, Comparative Genomic Hybridization, Genome, Human, Chromosome Mapping, Computational Biology, Chromosome, medicine.disease, Pedigree, Xq28, Phenotype, Child, Preschool, Female, Chromosome Deletion, Comparative genomic hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab86319d509588ae76e6e8c1fee82734Test
https://doi.org/10.1136/jmedgenet-2011-100125Test