Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes. - Wikidata - wikimedia - TriplyDB

Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes.

Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes.

http://www.wikidata.org/entity/Q34452268

about

GROM-RD: resolving genomic biases to improve read depth detection of copy number variants Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing Mechanisms underlying structural variant formation in genomic disorders Chromosomal translocations and palindromic AT-rich repeats Structural variation mutagenesis of the human genome: Impact on disease and evolution.Characterization of human chromosomal material exchange with regard to the chromosome translocations using next-generation sequencing data Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration Detecting non-allelic homologous recombination from high-throughput sequencing data.The origin of the Hox/ParaHox genes, the Ghost Locus hypothesis and the complexity of the first animal.Nonallelic homologous recombination between retrotransposable elements is a driver of de novo unbalanced translocations.The chromatin assembly factor 1 promotes Rad51-dependent template switches at replication forks by counteracting D-loop disassembly by the RecQ-type helicase Rqh1 Recovery of arrested replication forks by homologous recombination is error-prone.Pseudoautosomal region 1 length polymorphism in the human population Reconstruction and evolutionary history of eutherian chromosomes.Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination.Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease.Molecular characterization of ring chromosome 18 by low-coverage next generation sequencing.Read clouds uncover variation in complex regions of the human genome.The genetics of microdeletion and microduplication syndromes: an update.Unbalanced translocations arise from diverse mutational mechanisms including chromothripsis.A recurrent translocation is mediated by homologous recombination between HERV-H elements.Two New Cases of 1p21.3 Deletions and an Unbalanced Translocation t(8;12) among Individuals with Syndromic Obesity.Mechanisms for recurrent and complex human genomic rearrangements.Mechanisms of Gene Duplication and Translocation and Progress towards Understanding Their Relative Contributions to Animal Genome Evolution.Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder.NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits.Mouse model implicates GNB3 duplication in a childhood obesity syndrome.One pedigree we all may have come from - did Adam and Eve have the chromosome 2 fusion?Characterising chromosome rearrangements: recent technical advances in molecular cytogenetics Context-based FISH localization of genomic rearrangements within chromosome 15q11.2q13 duplicons.Genomic instability: Crossing pathways at the origin of structural and numerical chromosome changes.Human Structural Variation: Mechanisms of Chromosome Rearrangements.Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation.An exploratory study of predisposing genetic factors for DiGeorge/velocardiofacial syndrome Deletions and duplications of the 22q11.2 region in spermatozoa from DiGeorge/velocardiofacial fathers.Evidence for correlation of fragile sites and chromosomal breakpoints in carriers of constitutional balanced chromosomal rearrangements.Identification of balanced chromosomal rearrangements previously unknown among participants in the 1000 Genomes Project: implications for interpretation of structural variation in genomes and the future of clinical cytogenetics.Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes.RSVSim: an R/Bioconductor package for the simulation of structural variations.

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Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes.

http://www.wikidata.org/entity/Q34452268

description

2011 nî lūn-bûn

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2011 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2011年の論文

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Observation and prediction of ...... een nonhomologous chromosomes.

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Ankita Patel

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Brian Dawson

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Elizabeth R Roeder

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James R Lupski

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Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

Towards a comprehensive structural variation map of an individual human genome

Finishing the euchromatic sequence of the human genome

Genomic disorders on 22q11

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Prdm9 controls activation of mammalian recombination hotspots

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

Methylation-specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences

Segmental duplications and copy-number variation in the human genome.

Site-specific reciprocal translocation, t(11;22) (q23;q11), in several unrelated families with 3:1 meiotic disjunction

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10.1101/GR.111609.110

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