المؤلفون: Liu Yang, Yahui Gao, Adam Oswalt, Lingzhao Fang, Clarissa Boschiero, Mahesh Neupane, Charles G. Sattler, Cong-jun Li, Eyal Seroussi, Lingyang Xu, Lv Yang, Li Li, Hongping Zhang, Benjamin D. Rosen, Curtis P. Van Tassell, Yang Zhou, Li Ma, George E. Liu

المصدر: BMC Genomics. 23

مصطلحات موضوعية: Male, Genome, Segmental Duplications, Genomic, DNA Copy Number Variations, Genetics, Animals, Cattle, Sequence Analysis, DNA, Spermatozoa, Biotechnology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc2b4f57299afb4c17102c7afe2cbb83Test
https://doi.org/10.1186/s12864-022-08441-8Test

المؤلفون: Jianhai Chen, Jie Zhong, Xuefei He, Xiaoyu Li, Pan Ni, Toni Safner, Nikica Šprem, Jianlin Han

المصدر: Animal genetics. 53(3)

مصطلحات موضوعية: Male, Genome, Segmental Duplications, Genomic, Swine, Sus scrofa, Genetics, Sperm Motility, Animals, Animal Science and Zoology, General Medicine, Chromosomes

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::396423336b80083d5ef666aba07857b7Test
https://pubmed.ncbi.nlm.nih.gov/35238061Test

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: Fan Yang, Depeng Wang, Liying Cui, Yu Huang, Pidong Li, Shangzhi Huang, Zhi-Qiang Wang, Kai Wang, Jiapeng Zhou, Li Fang, Fan Liang, Yi Dai

المصدر: Journal of Medical Genetics

مصطلحات موضوعية: musculoskeletal diseases, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, facioscapulohumeral muscular dystrophy, Computational biology, Biology, macrosatellite, Young Adult, Segmental Duplications, Genomic, Tandem repeat, Methods, Genetics, medicine, Humans, Facioscapulohumeral muscular dystrophy, Muscular dystrophy, Allele, Alleles, Genetics (clinical), Segmental duplication, Southern blot, FSHD, D4Z4, Haplotype, DNA, Middle Aged, Telomere, medicine.disease, Muscular Dystrophy, Facioscapulohumeral, Single Molecule Imaging, Pedigree, Restriction enzyme, Haplotypes, Tandem Repeat Sequences, single-molecule optical mapping, Female, Chromosomes, Human, Pair 4

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f0164ec2609c29ef569811b520343faTest
https://doi.org/10.1136/jmedgenet-2019-106078Test

المؤلفون: Lila Mouakkad-Montoya, Hisashi Tanaka, Michael M Murata, Armando E. Giuliano, Beth Osia, Arvis Sulovari, Makoto Katsumata, Ryusuke Suzuki, Evan E. Eichler, Anna Malkova

المصدر: Proceedings of the National Academy of Sciences of the United States of America

مصطلحات موضوعية: Male, DNA Copy Number Variations, extrachromosomal circular DNA, Extrachromosomal circular DNA, Biology, Genome, sperm, Germline, Chromosomes, chemistry.chemical_compound, Mice, Segmental Duplications, Genomic, Genetics, Animals, Humans, Copy-number variation, segmental duplications, Segmental duplication, Multidisciplinary, Genome, Human, multi-mapped reads, DNA, Biological Sciences, Spermatozoa, Nuclear DNA, Mice, Inbred C57BL, Germ Cells, chemistry, Human genome, DNA, Circular, HeLa Cells

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3f7d747c8b5561eb4a7b345e666b226Test
https://pubmed.ncbi.nlm.nih.gov/34789574Test

المؤلفون: Steven Pastor, Oanh Tran, Daniel E. McGinn, T. Blaine Crowley, Elaine H. Zackai, Donna M. McDonald-McGinn, Beverly S. Emanuel

المصدر: Genes; Volume 13; Issue 9; Pages: 1668

مصطلحات موضوعية: Male, Parents, Segmental Duplications, Genomic, DiGeorge Syndrome, Genetics, Humans, Child, Homologous Recombination, Alleles, Translocation, Genetic, Genetics (clinical), 22q11.2 Deletion Syndrome, microdeletion, optical mapping, recombination, structural variation

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::055dc15e4375b079dc7806d8b767ca12Test
https://doi.org/10.3390/genes13091668Test

المؤلفون: Arwa Al-Dilaimi, Lothar Faber, Jörn Kalinowski, Martin Farr, Alexander Goesmann, João Paulo Oliveira, Volker Rudolph, Susana Ferreira, Cornelius Knabbe, Sonja Bögeholz

المصدر: Molecular and Cellular Probes. 45:79-83

مصطلحات موضوعية: Male, Adolescent, Alu element, Computational biology, Biology, DNA sequencing, 03 medical and health sciences, Exon, Segmental Duplications, Genomic, Alu Elements, Gene duplication, medicine, Humans, Genetic Predisposition to Disease, Multiplex, Copy-number variation, Molecular Biology, 030304 developmental biology, 0303 health sciences, 030306 microbiology, High-Throughput Nucleotide Sequencing, food and beverages, RNA, Exons, Sequence Analysis, DNA, Cell Biology, medicine.disease, Fabry disease, Pedigree, alpha-Galactosidase, Fabry Disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99e529384e4434bc0d17859a8ffdae56Test
https://doi.org/10.1016/j.mcp.2019.03.008Test

المؤلفون: Istvan Balogh, Gábor Mogyorósy, Orsolya Nagy, Katalin Szakszon, Anikó Ujfalusi, Dóra Nagy, Brigitta Orsolya Biró, Bálint Nagy

المصدر: Journal of Biotechnology. 299:86-95

مصطلحات موضوعية: Heart Defects, Congenital, Male, 0106 biological sciences, 0301 basic medicine, Adolescent, DNA Copy Number Variations, Microarray, Bioengineering, Disease, Klinikai orvostudományok, 01 natural sciences, Applied Microbiology and Biotechnology, Translocation, Genetic, Pathogenesis, 03 medical and health sciences, Segmental Duplications, Genomic, Pregnancy, Prenatal Diagnosis, 010608 biotechnology, Gene duplication, Humans, Medicine, Multiplex, Genetic Testing, cardiovascular diseases, Multiplex ligation-dependent probe amplification, Copy-number variation, In Situ Hybridization, Fluorescence, Genetics, Comparative Genomic Hybridization, business.industry, Infant, Orvostudományok, General Medicine, Phenotype, 030104 developmental biology, Child, Preschool, Female, business, Multiplex Polymerase Chain Reaction, Biotechnology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea69219c9bf006f3f324e42a14749b0bTest
https://doi.org/10.1016/j.jbiotec.2019.04.025Test

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

المؤلفون: Claudia Ornstein, Anne S. Bassett, Matthew S. Hestand, Bruno Marino, Kelly Schoch, Tony J. Simon, Therese van Amelsvoort, Doron Gothelf, Carrie E. Bearden, Elemi J. Breetvelt, Michael P. Epstein, Tiffany Busa, Robert J. Shprintzen, David Cutler, Tao Wang, Leila Kushan-Wells, Donna M. McDonald-McGinn, Raquel E. Gur, Hayley Moss, Esther D. A. van Duin, B Dallapiccola, Joris Vermeesch, Clodagh M. Murphy, Yingjie Zhao, Rens Evers, María Angeles de la Fuente Sanches, Ann Swillen, H. Richard Johnston, Maria Pontillo, Steve Warren, Guido Lattanzi, Michael E. Zwick, Jacob A. S. Vorstman, Jeroen Breckpot, Oanh Tran, Stylianos E. Antonarakis, Stefano Vicari, Andrea Jin, Alexander Diacou, Miri Carmel, Christian R. Marshall, Abraham Weizman, Bernice E. Morrow, Fadi I Musfee, Wendy R. Kates, Michael John Owen, Fabio Di Fabio, Marco Armando, Erik Boot, Claudia Vingerhoets, Elizabeth Goldmuntz, Massimo Biondi, Kieran C. Murphy, Nancy Butcher, Declan G. Murphy, Candice K. Silversides, Isabelle Cleynen, T. Blaine Crowley, Vandana Shashi, Linda E. Campbell, Elaine H. Zackai, Ronnie Weinberger, Sixto García-Miñaur, Marianne Bernadette van den Bree, Fernando García Algas, Damian Heine-Suñer, Tracy Heung, Daniel E. McGinn, Maude Schneider, Stephan Eliez, Marta Unolt, Stephen R. Hooper, Kathryn McCabe, A. J. Agopian, Tingwei Guo, Zhengdong Zhang, Rosemarie Fritsch, Luis Fernández, Beverly S. Emanuel, Elfi Vergaelen, Alejandra Laorden-Nieto, Flora Tassone, Gabriela M. Repetto, Laura E. Mitchell, Antonino Buzzanca, Elena Michaelovsky, M. Cristina Digilio, Nicole Philip

المساهمون: RS: MHeNs - R2 - Mental Health, Psychiatrie & Neuropsychologie, MUMC+: MA Med Staf Spec Psychiatrie (9), Antonarakis, Stylianos

المصدر: American Journal of Human Genetics, 106(1), 26-40. Cell Press
Am J Hum Genet
American Journal of Human Genetics, Vol. 106, No 1 (2020) pp. 26-40
American journal of human genetics, vol 106, iss 1

مصطلحات موضوعية: Male, Heart disease, PREDICTION, Chromosomes, Human, Pair 22, Haploinsufficiency, Cardiovascular, Medical and Health Sciences, Genetic modifier, Proto-Oncogene Mas, Linkage Disequilibrium, Cohort Studies, Congenital, ddc:616.89, Segmental Duplications, Genomic, DiGeorge syndrome, 2.1 Biological and endogenous factors, Chromosome 22q11.2 deletion syndrome, Copy-number variation, Aetiology, Genetics (clinical), Heart Defects, Pediatric, Genetics & Heredity, Genetics, cardio-facial syndrome, II DEFICIENCY, 0303 health sciences, variants, MOLECULAR DEFINITION, 030305 genetics & heredity, TBX1, Single Nucleotide, Biological Sciences, Segmental Duplications, Complex trait, Heart Disease, Phenotype, Female, tbx1 haploinsufficiency, Chromosome Deletion, Human, Heart Defects, Congenital, prevalence, Biology, Polymorphism, Single Nucleotide, Chromosomes, Article, 03 medical and health sciences, Complete sequence, Clinical Research, LOW-COPY REPEATS, medicine, Humans, Polymorphism, Allele, Conotruncal heart defects, International 22q11.2 Brain and Behavior Consortium, 030304 developmental biology, Sequence (medicine), Congenital heart disease, Copy number variation, Human Genome, association, CRKL, medicine.disease, chromosome 22q11.2 deletion syndrome, complex trait, congenital heart disease, conotruncal heart defects, copy number variation, genetic association, genetic modifier, haploinsufficiency, Case-Control Studies, Genome-Wide Association Study, Genomic, Genetic association, Pair 22

وصف الملف: application/pdf; Print-Electronic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8700304c185800fa1b2e56de201d2874Test
https://cris.maastrichtuniversity.nl/en/publications/fcebc151-7a92-4dbe-8f36-bd15cb7462bbTest