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61. Full Text PGD for a complex chromosomal rearrangement by array comparative genomic hybridization
by Vanneste, E and Melotte, C and Voet, T and Robberecht, C and Debrock, S and Pexsters, A and Staessen, C and Tomassetti, C and Legius, E and D'Hooghe, T and Vermeesch, J.R
Human Reproduction, ISSN 0268-1161, 4/2011, Volume 26, Issue 4, pp. 941 - 949
Patients carrying a chromosomal rearrangement (CR) have an increased risk for chromosomally unbalanced conceptions. Preimplantation genetic diagnosis (PGD) may... 
complex chromosomal rearrangement | insertion | translocation | PGD | array | CELLS | INSTABILITY | ABNORMALITIES | IN-SITU HYBRIDIZATION | BLASTOMERES | OBSTETRICS & GYNECOLOGY | PREIMPLANTATION GENETIC DIAGNOSIS | ANEUPLOIDY | HUMAN EMBRYOS | REPRODUCTIVE BIOLOGY | AMPLIFICATION | PATIENT | Chromosomes, Human, Pair 8 - genetics | Abortion, Spontaneous - genetics | Humans | Aneuploidy | In Situ Hybridization, Fluorescence | Male | Meiosis | Comparative Genomic Hybridization - methods | Preimplantation Diagnosis - methods | Pregnancy | Chromosomes, Human, Pair 9 - genetics | Embryo Transfer | Chromosome Aberrations | Adult | Female | Pregnancy Outcome
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62. Full Text Therapy-related acute myeloid leukemia-like MLL rearrangements are induced by etoposide in primary human CD34 + cells and remain stable after clonal expansion
by Libura, Jolanta and Slater, Diana J and Felix, Carolyn A and Richardson, Christine
Blood, ISSN 0006-4971, 03/2005, Volume 105, Issue 5, pp. 2124 - 2131
Rearrangements involving the MLL gene on chromosome band 11q23 are a hallmark of therapy-related acute myeloid leukemias following treatment with topoisomerase... 
CHROMOSOMAL TRANSLOCATIONS | ACUTE LYMPHOBLASTIC-LEUKEMIA | PANHANDLE PCR | DNA-TOPOISOMERASE-II | TANDEM DUPLICATION | CLUSTER REGION | GENOMIC BREAKPOINT | HEMATOLOGY | DOUBLE-STRAND BREAK | HOMOLOGOUS RECOMBINATIONAL REPAIR | MAMMALIAN-CELLS | Antigens, CD34 | Hematopoietic Stem Cells - drug effects | Gene Rearrangement - drug effects | Translocation, Genetic | Acute Disease | Cell Proliferation | Etoposide - adverse effects | Histone-Lysine N-Methyltransferase | Humans | Leukemia, Myeloid - genetics | Cells, Cultured | Hematopoietic Stem Cells - pathology | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Leukemia, Myeloid - chemically induced | Proto-Oncogenes - genetics | Myeloid-Lymphoid Leukemia Protein | Clone Cells | Neoplasms, Second Primary - genetics | Fetal Blood
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63. Full Text Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome
by Collins, Ryan L and Brand, Harrison and Redin, Claire E and Hanscom, Carrie and Antolik, Caroline and Stone, Matthew R and Glessner, Joseph T and Mason, Tamara and Pregno, Giulia and Dorrani, Naghmeh and Manile, Giorgia and Giachino, Daniela and Perrin, Danielle and Walsh, Cole and Cipicchio, Michelle and Costello, Maura and Stortchevoi, Alexei and An, Joon Yong and Currall, Benjamin B and Seabra, Catarina M and Ragavenan, Ashok and Margolin, Lauren and Martinez-Agosto, Julian A and Lucente, Diane and Levy, Brynn and Sanders, Jan-Stephan and Wapner, Ronald J and Quintero-Rivera, Fabiola and Kloosterman, Wigard and Talkowski, Michael E
Genome Biology, ISSN 1474-7596, 03/2017, Volume 18, Issue 1, p. 36
Background: Structural variation (SV) influences genome organization and contributes to human disease. However, the complete mutational spectrum of SV has not... 
Ecology, Evolution, Behavior and Systematics | Germline mutation | Inversion | Neurodevelopmental disorders | Chromothripsis | Journal Article | Chromoanagenesis | Copynumber variation | Cell Biology | Autism | Whole-genome sequencing | Structural variation | Complex chromosomal rearrangement | Genetics | POLYMORPHIC INVERSIONS | SEQUENCE VARIATION | HIDDEN-MARKOV MODEL | BALANCED CHROMOSOME REARRANGEMENTS | DNA-DAMAGE | CATASTROPHIC EVENT | CANCER | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | GENETICS & HEREDITY | COPY NUMBER VARIATION | PRENATAL-DIAGNOSIS | REVEALS | Autism Spectrum Disorder - genetics | Genetic Predisposition to Disease | Gene Rearrangement | Humans | Chromosome Aberrations | High-Throughput Nucleotide Sequencing | Mutation | Genome, Human | Genomics - methods | Chromosome Inversion | Gene Order | Consortia | Breakpoints | Genomics | Genomes | Chromosome rearrangements | Chromosomes | Deoxyribonucleic acid--DNA | Cancer
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64. Full Text Whole-chromosome paints in maize reveal rearrangements, nuclear domains, and chromosomal relationships
by Albert, Patrice S and Zhang, Tao and Semrau, Kassandra and Rouillard, Jean-Marie and Kao, Yu-Hsin and Wang, Chung-Ju Rachel and Danilova, Tatiana V and Jiang, Jiming and Birchler, James A
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 01/2019, Volume 116, Issue 5, pp. 1679 - 1685
Whole-chromosome painting probes were developed for each of the 10 chromosomes of maize by producing amplifiable libraries of unique sequences of... 
Oligo-FISH | B chromosome | Chromosomal aberrations | Chromosome painting | Karyotype | MULTIDISCIPLINARY SCIENCES | RESOLUTION | oligo-FISH | IN-SITU HYBRIDIZATION | B-CHROMOSOME | TRANSPOSITION | PROBES | chromosome painting | CYTOLOGICAL VISUALIZATION | karyotype | ZEA | SEQUENCE | COMPLEXITY | chromosomal aberrations | CYTOGENETIC MAP | Oligonucleotides - genetics | Cell Nucleus - genetics | Genome, Plant - genetics | Metaphase - genetics | Chromosome Aberrations | DNA Probes - genetics | Gene Rearrangement - genetics | Transcription, Genetic - genetics | Chromosomes, Plant - genetics | Chromosome Painting - methods | Corn | Genetic aspects | Observations | Chromosomes | Transcription | DNA probes | Oligonucleotides | Homology | Genomes | Maize | Meiosis | Painting | Domains | Metaphase | Nuclei (cytology) | Supernumerary | Probes | Paints | Nuclear reactions | Chromosome aberrations | Pachytene | Biological Sciences | PNAS Plus
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65. Full Text Functional consequences of chromosomal rearrangements on gene expression: not so deleterious after all?
by Ghavi-Helm, Yad
Journal of Molecular Biology, ISSN 0022-2836, 10/2019
Life Sciences
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66. Full Text Subtelomeric rearrangements in indian children with idiopathic intellectual disability/developmental delay: Frequency estimation & clinical correlation using fluorescence in situ hybridization (FISH)
by Mohan, Shruthi and Koshy, Teena and Vekatachalam, Perumal and Nampoothiri, Sheela and Yesodharan, Dhanya and Gowrishankar, Kalpana and Kumar, Jeevan and Ravichandran, Latha and Joseph, Santhosh and Chandrasekaran, Anupama and Paul, Solomon F. D
Indian Journal of Medical Research, ISSN 0971-5916, 2016, Volume 144, Issue August, pp. 206 - 214
Background objectives: Subtelomeres are prone to deleterious rearrangements owing to their proximity to unique sequences on the one end and telomeric... 
Cytogenetics | Developmental delay | Subtelomeric rearrangements | Chromosomal | Fluorescence in situ hybridization | MEDICINE, RESEARCH & EXPERIMENTAL | DIAGNOSIS | MENTAL-RETARDATION | IMMUNOLOGY | cytogenetics | SHORT STATURE | fluorescence in situ hybridization | INDIVIDUALS | MEDICINE, GENERAL & INTERNAL | OBESITY | developmental delay | END | HOMEOBOX GENE | DELETIONS | subtelomeric rearrangements | TELOMERES | Humans | Intellectual Disability - pathology | Child, Preschool | Infant | Male | Developmental Disabilities - genetics | Intellectual Disability - genetics | Developmental Disabilities - pathology | Adolescent | Chromosome Aberrations | Female | Gene Rearrangement - genetics | Child | In Situ Hybridization, Fluorescence - methods | Karyotype | Telomere - genetics | Causes of | Telomeres | Genetic aspects | Mental retardation | Health aspects | Studies | Genotype & phenotype | Intellectual disabilities | Population | Hybridization | Chromosomes | Patients | Original | Chromosomal - cytogenetics - developmental delay - fluorescence in situ hybridization - subtelomeric rearrangements
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67. Full Text Genome-wide signatures of 'rearrangement hotspots' within segmental duplications in humans
by Uddin, Mohammed and Sturge, Mitch and Peddle, Lynette and O'Rielly, Darren D and Rahman, Proton
PLoS ONE, ISSN 1932-6203, 12/2011, Volume 6, Issue 12, p. e28853
The primary objective of this study was to create a genome-wide high resolution map (i.e., >100 bp) of 'rearrangement hotspots' which can facilitate the... 
MICRODELETION | MICRODUPLICATION | CHROMOSOME | EVOLUTION | MECHANISM | VARIANTS | MULTIDISCIPLINARY SCIENCES | DIVERSITY | COPY NUMBER VARIATION | DELETIONS | DISCOVERY | Chromosome Deletion | Segmental Duplications, Genomic - genetics | Base Pairing - genetics | Chromosomes, Human - genetics | Humans | Gene Rearrangement - genetics | Genome, Human - genetics | Biotechnology | Genomes | Algorithms | Analysis | Genes | Genomics | Ontology | Intellectual disabilities | Copy number | Homologous recombination | Homology | Neuroblastoma | Microcephaly | Consortia | Reproduction (copying) | Phylogenetics | Genetics | Deserts | Localization | Signatures | Bioinformatics | Discipline | Assembly | Deoxyribonucleic acid--DNA | Breakpoints | Nucleotide sequence | Hot spots | Medicine | Collaboration | Deoxyribonucleic acid | DNA
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68. Full Text A Robust Approach for Blind Detection of Balanced Chromosomal Rearrangements with Whole‐Genome Low‐Coverage Sequencing
by Dong, Zirui and Jiang, Lupin and Yang, Chuanchun and Hu, Hua and Wang, Xiuhua and Chen, Haixiao and Choy, Kwong Wai and Hu, Huamei and Dong, Yanling and Hu, Bin and Xu, Juchun and Long, Yang and Cao, Sujie and Chen, Hui and Wang, Wen‐Jing and Jiang, Hui and Xu, Fengping and Yao, Hong and Xu, Xun and Liang, Zhiqing
Human Mutation, ISSN 1059-7794, 05/2014, Volume 35, Issue 5, pp. 625 - 636
ABSTRACT Balanced chromosomal rearrangement (or balanced chromosome abnormality, BCA) is a common chromosomal structural variation. Next‐generation sequencing... 
balanced chromosomal rearrangement | whole‐genome low coverage | blind detection | next‐generation sequencing | Balanced chromosomal rearrangement | Whole-genome low coverage | Blind detection | Next-generation sequencing | DIAGNOSIS | ABORTIONS | TRANSLOCATION CARRIERS | MICROARRAY | next-generation sequencing | GENETICS & HEREDITY | SHORT READ ALIGNMENT | KARYOTYPE | whole-genome low coverage | Translocation, Genetic | Humans | Karyotyping | Chromosome Aberrations | Chromosome Disorders - diagnosis | Chromosome Mapping | Genome, Human | High-Throughput Nucleotide Sequencing - methods | Chromosome Disorders - genetics | Cytogenetics | Chromosomes | Analysis | Genomics | Genomes
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69. Full Text Molecular cytogenetic characterization of multiple intrachromosomal rearrangements in two representatives of the genus Turdus (Turdidae, Passeriformes)
by Kretschmer, Rafael and Gunski, Ricardo José and Del Valle Garnero, Analía and De Oliveira Furo, Ivanete and O'Brien, Patricia C. M and Ferguson-Smith, Malcolm A and De Oliveira, Edivaldo Herculano Corrêa
PLoS ONE, ISSN 1932-6203, 07/2014, Volume 9, Issue 7, p. e103338
Turdus rufiventris and Turdus albicollis, two songbirds belonging to the family Turdidae (Aves, Passeriformes) were studied by C-banding, 18S rDNA, as well as... 
RECOMBINATION | CHICKEN GALLUS-GALLUS | EVOLUTION | CONSERVATION | MACROCHROMOSOMES | MULTIDISCIPLINARY SCIENCES | WORLD VULTURES | CHROMOSOMAL-POLYMORPHISM | CATHARTIDAE | BIRDS | GENOME | Songbirds - classification | Animals | Songbirds - genetics | RNA, Ribosomal, 18S - genetics | Male | Phylogeny | Chromosome Inversion | Chromosome Painting - methods | Karyotype | Evolution, Molecular | Cytogenetics | Hawks | Thrushes | Chemical properties | Chromosomes | Analysis | Structural painting | Genomics | Inversions | Karyotypes | Fluorescence | Birds | Genomes | Chromosome 2 | Banding | Fluorescence in situ hybridization | Phylogenetics | Evolution | Songbirds | Probes
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70. Full Text Unstable chromosome rearrangements in Staphylococcus aureus cause phenotype switching associated with persistent infections
by Guerillot, R and Kostoulias, X and Donovan, L and Li, L and Carter, GP and Hachani, A and Vandelannoote, K and Giulieri, S and Monk, IR and Kunimoto, M and Starrs, L and Burgio, G and Seemann, T and Peleg, AY and Stinear, TP and Howden, BP
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, ISSN 0027-8424, 10/2019, Volume 116, Issue 40, pp. 20135 - 20140
Staphylococcus aureus small-colony variants (SCVs) are associated with unusually chronic and persistent infections despite active antibiotic treatment. The... 
SMALL-COLONY VARIANTS | small-colony variant | ACTIVATION | PROTEIN | MULTIDISCIPLINARY SCIENCES | restriction modification system | chromosomal rearrangement | HEMB MUTANT | VIRULENCE | PLASMINOGEN | STAPHYLOKINASE | genome instability | PHAGES | EXPRESSION | Staphylococcus aureus | Recombination | Genes | Gene regulation | Biological evolution | Virulence | Evolutionary genetics | Inversion | Activation | Genomes | Infections | Nucleotides | Chromosome rearrangements | Genomic instability | Reversion | Phenotypic reversion | Transcription activation | Chromosomes | Subpopulations | Phenotypes | Cell survival | Colonies | Staphylococcus infections | Gene expression | Chemotaxis | Antibiotics | Persistent infection | Rifampin | Biological Sciences
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71. Full Text Frequent PLAG1 gene rearrangements in skin and soft tissue myoepithelioma with ductal differentiation
by Antonescu, Cristina R and Zhang, Lei and Shao, Sung Yun and Mosquera, Juan‐Miguel and Weinreb, Ilan and Katabi, Nora and Fletcher, Christopher D. M
Genes, Chromosomes and Cancer, ISSN 1045-2257, 07/2013, Volume 52, Issue 7, pp. 675 - 682
A subset of cutaneous and superficial soft tissue myoepithelial (ME) tumors displays a distinct ductal component and closely resembles mixed tumors/pleomorphic... 
FUSION | AMPLIFICATION | PLEOMORPHIC ADENOMA | ONCOLOGY | GENETICS & HEREDITY | SALIVARY-GLANDS | PROMOTER | TUMORS | EXPRESSION | Skin Neoplasms - pathology | Salivary Glands - pathology | Carcinoma, Ductal - genetics | Carcinoma, Ductal - pathology | Humans | Middle Aged | In Situ Hybridization, Fluorescence | Male | Oncogene Proteins, Fusion - isolation & purification | DNA-Binding Proteins - genetics | Myoepithelioma - pathology | Myoepithelioma - genetics | Leukemia Inhibitory Factor Receptor alpha Subunit - genetics | Oncogene Proteins, Fusion - genetics | Gene Rearrangement | Skin Neoplasms - genetics | Adolescent | HMGA2 Protein - genetics | Soft Tissue Neoplasms - pathology | Adult | Female | Aged | Salivary Glands - metabolism | Soft Tissue Neoplasms - genetics | Skin | Chromosomal proteins | Analysis | Genes | Leukemia
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72. Full Text Definition of MYC genetic heteroclonality in diffuse large B-cell lymphoma with 8q24 rearrangement and its impact on protein expression
by Valera, Alexandra and Epistolio, Samantha and Colomo, Lluis and Riva, Alice and Balagué, Olga and Dlouhy, Ivan and Tzankov, Alexandar and Bühler, Marco and Haralambieva, Eugenia and Campo, Elias and Soldini, Davide and Mazzucchelli, Luca and Martin, Vittoria
Modern Pathology, ISSN 0893-3952, 08/2016, Volume 29, Issue 8, pp. 844 - 852
MYC rearrangement can be detected in a subgroup of diffuse large B-cell lymphoma characterized by unfavorable prognosis. In contrast to Burkitt lymphoma, the... 
SURVIVAL | IMMUNOCHEMOTHERAPY | BURKITT-LYMPHOMA | CHROMOSOMAL BREAKPOINTS | TRANSLOCATIONS | PROGNOSIS | TISSUE | IN-SITU HYBRIDIZATION | C-MYC | BCL2 | PATHOLOGY | Immunohistochemistry | Predictive Value of Tests | Proto-Oncogene Proteins c-myc - analysis | Humans | Middle Aged | Gene Expression Regulation, Neoplastic | Male | Genes, Immunoglobulin Heavy Chain | Aged, 80 and over | Lymphoma, Large B-Cell, Diffuse - chemistry | Adult | Female | Genetic Predisposition to Disease | Lymphoma, Large B-Cell, Diffuse - pathology | Biomarkers, Tumor - analysis | In Situ Hybridization, Fluorescence | Chromosomes, Human, Pair 8 | Switzerland | Spain | Phenotype | Gene Rearrangement | Aged | Biomarkers, Tumor - genetics | Proto-Oncogene Proteins c-myc - genetics | Lymphoma, Large B-Cell, Diffuse - genetics
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73. Full Text Palindrome‐Mediated and Replication‐Dependent Pathogenic Structural Rearrangements within the NF1 Gene
by Hsiao, Meng‐Chang and Piotrowski, Arkadiusz and Alexander, John and Callens, Tom and Fu, Chuanhua and Mikhail, Fady M and Claes, Kathleen B.M and Messiaen, Ludwine
Human Mutation, ISSN 1059-7794, 07/2014, Volume 35, Issue 7, pp. 891 - 898
ABSTRACT Palindromic sequences can form hairpin structures or cruciform extrusions, which render them susceptible to genomic rearrangements. A 197‐bp long... 
DNA replication | translocation | deletion | double‐strand break | hotspot | NF1 | MMBIR | NHEJ | FoSTeS | Translocation | Deletion | Hotspot | Double-strand break | DNA PALINDROMES | GENOMIC REARRANGEMENTS | MECHANISMS | DISTANCE INVERSE-PCR | AT-RICH PALINDROMES | CHROMOSOMAL TRANSLOCATIONS | GENETICS & HEREDITY | double-strand break | NONRECURRENT REARRANGEMENTS | NONALLELIC HOMOLOGOUS RECOMBINATION | COPY NUMBER VARIATION | NEUROFIBROMATOSIS TYPE-1 | Sequence Deletion | Translocation, Genetic | Chromosome Breakpoints | Humans | Molecular Sequence Data | DNA Replication | AT Rich Sequence | Chromosomes, Human, Pair 17 | Recombination, Genetic | Base Sequence | Chromosomes, Human, Pair 14 | Neurofibromatosis 1 - genetics | Neurofibromin 1 - chemistry | Neurofibromin 1 - genetics | Inverted Repeat Sequences | Analysis | Genes | Pathogenesis | Genomics | Mutation
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