المؤلفون: Yukyung Jun, Evan E. Eichler, Scott E. Devine, Ben Weisburd, Harrison Brand, Jack Fu, Ryan L. Collins, Jan O. Korbel, Harold Z. Wang, Tobias Marschall, Michael E. Talkowski, Wan-Ping Lee, Mark Chaisson, Peter A. Audano, Ryan E. Mills, Qihui Zhu, Charles Lee, Alexandra M Weber, Mark Walker, Chelsea Lowther, Mark Gerstein, Xuefang Zhao, Yongqing Huang

المصدر: Am J Hum Genet

مصطلحات موضوعية: DNA Copy Number Variations, Sequence assembly, Genomics, Computational biology, Biology, Genome, Structural variation, 03 medical and health sciences, Segmental Duplications, Genomic, 0302 clinical medicine, Report, Genetics, Humans, Copy-number variation, Genetics (clinical), 030304 developmental biology, Whole genome sequencing, 0303 health sciences, Whole Genome Sequencing, Genome, Human, Exons, Research Design, Genomic Structural Variation, Human genome, Goals, Sequence Alignment, 030217 neurology & neurosurgery, Reference genome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32ef94aebea841a46dec2e44cc40b347Test
https://doi.org/10.1016/j.ajhg.2021.03.014Test

المؤلفون: Lisanne Vervoort, Joris Robert Vermeesch

المصدر: Genes. 13:2101

مصطلحات موضوعية: Genetics & Heredity, Science & Technology, Genome, Human, SEGMENTAL DUPLICATIONS, DELETION SYNDROME, SEQUENCE, PATIENT, NO OVERLAP, REGION, Segmental Duplications, Genomic, low copy repeats, DiGeorge Syndrome, Genetics, Humans, DIGEORGE-SYNDROME, 22811.2 deletion syndrome, MOLECULAR CHARACTERIZATION, BREAKPOINTS, TRANSLOCATIONS, genomic disorders, Life Sciences & Biomedicine, Genetics (clinical)

وصف الملف: Electronic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba1aaab19ea4a098fc4be4c7188dc950Test
https://doi.org/10.3390/genes13112101Test

المؤلفون: Eva-Cristiana Gavril, Roxana Popescu, Irina Nucă, Cristian-Gabriel Ciobanu, Lăcrămioara Ionela Butnariu, Cristina Rusu, Monica-Cristina Pânzaru

المصدر: Genes; Volume 13; Issue 11; Pages: 2083

مصطلحات موضوعية: Segmental Duplications, Genomic, 22q11.2DS, low-copy repeats sequences, phenotype, MLPA, DiGeorge Syndrome, Genetics, Humans, Genetic Association Studies, Genetics (clinical), Retrospective Studies

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2dbfdf8868d5636956bb2251732e5e2Test
https://doi.org/10.3390/genes13112083Test

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: 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: 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: Romain Nicolle, Karine Siquier-Pernet, Marlène Rio, Anne Guimier, Emmanuelle Ollivier, Patrick Nitschke, Christine Bole-Feysot, Serge Romana, Alex Hastie, Vincent Cantagrel, Valérie Malan

المصدر: Eur J Hum Genet

مصطلحات موضوعية: Chromosome Aberrations, Segmental Duplications, Genomic, Whole Genome Sequencing, Genetics, Chromosome Mapping, Humans, Genomics, Syndrome, Genetics (clinical), Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f233684735fca1668360c52a6306dd65Test
https://pubmed.ncbi.nlm.nih.gov/35388186Test

المؤلفون: Alexander Martínez-Fundichely, Cristina Aguado, Laia Capilla, Aurora Ruiz-Herrera, Magdalena Gayà-Vidal, Víctor Montalvo, Carla Giner-Delgado, Meritxell Oliva, Mario Cáceres, Sergi Villatoro, David Izquierdo, Judit García-González, Marta Sabariego Puig, Xavier Estivill

المساهمون: Cáceres Aguilar, Mario

المصدر: Recercat. Dipósit de la Recerca de Catalunya
instname
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
PLoS Genetics
PLoS Genetics, Vol 10, Iss 3, p e1004208 (2014)
Recercat: Dipósit de la Recerca de Catalunya
Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)

مصطلحات موضوعية: Ximpanzés -- Genètica, Cancer Research, Genotyping, lcsh:QH426-470, Pan troglodytes, Inverted Repeat Sequences, Human genomics, Single-nucleotide polymorphism, HapMap Project, Biology, Evolution, Molecular, Segmental Duplications, Genomic, Genetics, Animals, Humans, Mammalian genomics, International HapMap Project, Chimpanzees, Variant genotypes, Molecular Biology, Genome Evolution, Genetics (clinical), Ecology, Evolution, Behavior and Systematics, Segmental duplication, Chromosomal inversion, Evolutionary Biology, Polymorphism, Genetic, Genètica humana, Population Biology, Genome, Human, Chromosome Mapping, Human Genetics, Genomics, Inversions, Comparative Genomics, Polymerase chain reaction, Minor allele frequency, lcsh:Genetics, Haplotypes, Chromosome Inversion, Genetic Polymorphism, Human genome, Structural Genomics, Population Genetics, Research Article

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d80f569fd1853be3ea8944e8a9cad34cTest
http://hdl.handle.net/2072/407893Test

المؤلفون: Ana Arnanz, Ibrahim Elkhatib, N. De Munck, M H Fatemi, Laura Melado, A Bayram, Alberto Liñán, Barbara Lawrenz

المصدر: J Assist Reprod Genet

مصطلحات موضوعية: 0301 basic medicine, Adult, Monosomy, Fertilization in Vitro, Biology, Single Center, Andrology, 03 medical and health sciences, 0302 clinical medicine, Segmental Duplications, Genomic, Pregnancy, Genetics, medicine, Humans, Blastocyst, Embryo Implantation, Genetic Testing, Genetics (clinical), Preimplantation Diagnosis, Genetic testing, Segmental duplication, Retrospective Studies, 030219 obstetrics & reproductive medicine, medicine.diagnostic_test, Obstetrics and Gynecology, Embryo, General Medicine, medicine.disease, Aneuploidy, Human genetics, Embryo Biology, 030104 developmental biology, medicine.anatomical_structure, Reproductive Medicine, embryonic structures, Female, Ploidy, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff12c1e5e68a61c0d6906d5c90dd6429Test
https://pubmed.ncbi.nlm.nih.gov/33742344Test

المؤلفون: Andrew R. Leitch, Monika Struebig, Oscar Alejandro Pérez-Escobar, Mark W. Chase, Maïté S. Guignard, Steven Dodsworth

المصدر: Genes, Vol 11, Iss 2, p 216 (2020)
Genes
Volume 11
Issue 2

مصطلحات موضوعية: 0106 biological sciences, 0301 basic medicine, Cytoplasm, Genome evolution, allopolyploidisation, DNA, Plant, retroelements, lcsh:QH426-470, repeats, genome evolution, 010603 evolutionary biology, 01 natural sciences, Genome, Article, Evolution, Molecular, 03 medical and health sciences, Segmental Duplications, Genomic, Genome Size, Species Specificity, Tobacco, Genetics, Repeated sequence, Genome size, Genetics (clinical), polyploidy, Repetitive Sequences, Nucleic Acid, Nicotiana, Sequence (medicine), Plant evolution, biology, High-Throughput Nucleotide Sequencing, food and beverages, nuclear-cytoplasmic interaction hypothesis, biology.organism_classification, lcsh:Genetics, 030104 developmental biology, Evolutionary biology, diploidisation, Paternal Inheritance, Maternal Inheritance, genome reorganisation, Genome, Plant

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::764dd51cd50f5ca6f805539e23a555beTest
https://www.mdpi.com/2073-4425/11/2/216Test