المؤلفون: Luis A. Pérez-Jurado, Marcos López-Sánchez, José Callizo, Tomas Marques-Bonet, Antonio Garcia-España, Javier U. Chicote

المساهمون: Ministerio de Economía y Competitividad (España), European Commission, Ministerio de Sanidad, Servicios Sociales e Igualdad (España), Generalitat de Catalunya

المصدر: BMC Genomics, Vol 21, Iss 1, Pp 1-11 (2020)
Digital.CSIC. Repositorio Institucional del CSIC
instname
BMC Genomics

مصطلحات موضوعية: 0106 biological sciences, Genome evolution, lcsh:QH426-470, lcsh:Biotechnology, X-Y transposed region, Locus (genetics), Biology, 01 natural sciences, 03 medical and health sciences, Segmental Duplications, Genomic, Gene Duplication, lcsh:TP248.13-248.65, Genetics, Humans, Copy-number variation, Indel, NHEJ, 030304 developmental biology, Segmental duplication, Chromoanasynthesis, 0303 health sciences, Genetic diversity, Genome, Copy number variants, Genome, Human, Segmental duplications, Breakpoint, Circular DNA, lcsh:Genetics, Evolutionary biology, Human genome evolution, DNA, Circular, DNA microarray, MMBIR/FoSTeS, Research Article, 010606 plant biology & botany, Biotechnology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab188cab597809904708af337c396d46Test
http://link.springer.com/article/10.1186/s12864-020-06998-wTest

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: Wiebke Hülsemann, Sérgio B. Sousa, Seval Türkmen, Pedro Louro, Vera M. Kalscheuer, Martin Vingron, Anna Latos-Bielenska, Marius-Konstantin Klever, Stefan Mundlos, Manuel Holtgrewe, Andreas Dufke, Björn Fischer-Zirnsak, Malte Spielmann, Fabiola Quintero-Rivera, Martin A. Mensah, Rocio Acuna-Hidalgo, Verena Heinrich, Eunice Matoso, Ilina D. Pluym, Uirá Souto Melo, Monika Cohen, Robert Schöpflin

المصدر: Am J Hum Genet
American journal of human genetics, vol 106, iss 6

مصطلحات موضوعية: Developmental Disabilities, Molecular Conformation, Chromosomal translocation, ectopic enhancer-promoter interactions, Medical and Health Sciences, cytogenetics, Translocation, Genetic, Cohort Studies, Chromosome conformation capture, Chromosome Breakpoints, Segmental Duplications, Genomic, 0302 clinical medicine, Hi-C, Chromosomes, Human, Genetics (clinical), Genetics & Heredity, 0303 health sciences, Genome, SOX9 Transcription Factor, Biological Sciences, Phenotype, Segmental Duplications, chromosome conformation capture, Human, Biotechnology, medicine.medical_specialty, Translocation, Locus (genetics), Computational biology, topologically associating domains, Biology, Chromosomes, Article, 03 medical and health sciences, Genetic, neo-TAD, gene misregulation, Genetics, medicine, Humans, developmental disorders, 030304 developmental biology, Genome, Human, Human Genome, Breakpoint, Cytogenetics, Chromatin Assembly and Disassembly, Genomic, Human genome, 030217 neurology & neurosurgery, Comparative genomic hybridization

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b4f6505d31271c4902a5868465e7a14Test
https://doi.org/10.1016/j.ajhg.2020.04.016Test

المؤلفون: Catherine J. Chu, Naomi Meeks, Feyza Yilmaz, Yulia Mostovoy, Chin Lin, Pui-Yan Kwok, Curtis R. Coughlin, Elizabeth A. Geiger, Tamim H. Shaikh, Stephen K. Chow, Urvashi Surti, Kathryn C. Chatfield

المساهمون: Shendure, J

المصدر: Genetics, vol 217, iss 2
Genetics

مصطلحات موضوعية: Heart Defects, Congenital, Williams Syndrome, Developmental Disabilities, Population, Locus (genetics), Chromosome Disorders, Biology, Chromosomes, Structural variation, Craniofacial Abnormalities, 03 medical and health sciences, Congenital, Chromosome Breakpoints, Segmental Duplications, Genomic, 0302 clinical medicine, Gene mapping, Seizures, Intellectual Disability, Genotype, Genetics, Humans, 2.1 Biological and endogenous factors, Aetiology, Repeated sequence, education, genomic disorders, segmental duplications, 030304 developmental biology, Segmental duplication, Heart Defects, Investigation, Chromosomes, Human, Pair 15, 0303 health sciences, education.field_of_study, Pair 16, Mental Disorders, Breakpoint, Human Genome, Pair 15, structural variation, 030220 oncology & carcinogenesis, Genomic Structural Variation, Genomic, genome mapping, Chromosome Deletion, Chromosomes, Human, Pair 16, Human, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0eaeab5762aa68104935b8aa68d68d4eTest
https://escholarship.org/uc/item/15562671Test

المؤلفون: Alexej Abyzov, Quang Tran

المصدر: Bioinformatics

مصطلحات موضوعية: Statistics and Probability, DNA Copy Number Variations, AcademicSubjects/SCI01060, Computer science, Locus (genetics), Computational biology, Biochemistry, 03 medical and health sciences, 0302 clinical medicine, Segmental Duplications, Genomic, Gene duplication, Copy-number variation, Molecular Biology, 030304 developmental biology, Segmental duplication, 0303 health sciences, Breakpoint, High-Throughput Nucleotide Sequencing, Sequence Analysis, DNA, Genome Analysis, Applications Notes, Computer Science Applications, Computational Mathematics, Computational Theory and Mathematics, Genomic Structural Variation, Pacific biosciences, 030217 neurology & neurosurgery, Algorithms, Software

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ba501777c074ce281008905011a4d73Test
https://pubmed.ncbi.nlm.nih.gov/32777815Test

المؤلفون: Krupa Shah, Aditi Daga, Valentina V. Umrania, Shanaya Patel, Afzal Ansari, Rakesh Rawal, Medha Pandya

المصدر: Interdisciplinary Sciences: Computational Life Sciences. 10:467-475

مصطلحات موضوعية: 0301 basic medicine, Chromosome engineering, Health Informatics, Chromosomal translocation, Chromosomal rearrangement, Biology, Genome, Translocation, Genetic, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Segmental Duplications, Genomic, Humans, Repetitive Sequences, Nucleic Acid, Segmental duplication, Genetics, Base Composition, Breakpoint, Computational Biology, Chromosome Breakage, Introns, Computer Science Applications, 030104 developmental biology, SIDD, Hematologic Neoplasms, Chromosome breakage, Algorithms, DNA Damage

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64c44f9561506e6c675e06f4906b7e83Test
https://doi.org/10.1007/s12539-016-0203-6Test

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

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: Nathalie Lannoy, Christine Verellen-Dumoulin, Cédric Hermans, Catherine Lambert, Miikka Vikkula, Stéphane Eeckhoudt, Bernard Grisart

المصدر: European Journal of Human Genetics. 21:970-976

مصطلحات موضوعية: Adult, Male, Adolescent, DNA Mutational Analysis, Biology, Hemophilia A, medicine.disease_cause, Article, Exon, Segmental Duplications, Genomic, Intellectual Disability, Sequence Homology, Nucleic Acid, Gene duplication, Genetics, medicine, Humans, Gene, Genetic Association Studies, Genetics (clinical), Segmental duplication, Comparative Genomic Hybridization, Mutation, Factor VIII, Breakpoint, Intron, Exons, Child, Preschool, Comparative genomic hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::382ea932bbc4e9b0aec95520cb423a1eTest
https://doi.org/10.1038/ejhg.2012.275Test

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