Genome architecture catalyzes nonrecurrent chromosomal rearrangements
about
Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypesMechanisms of change in gene copy numberThe Arabidopsis lyrata genome sequence and the basis of rapid genome size changeCNV and nervous system diseases--what's new?Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplicationCharacterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotypeGenotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrumSegmental duplications and copy-number variation in the human genome.Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substratesIn with the old, in with the new: the promiscuity of the duplication process engenders diverse pathways for novel gene creationCopy-number gains of HUWE1 due to replication- and recombination-based rearrangementsThe role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variationsGenome-wide mapping and assembly of structural variant breakpoints in the mouse genomeThe jewels of our genome: the search for the genomic changes underlying the evolutionarily unique capacities of the human brain.A microhomology-mediated break-induced replication model for the origin of human copy number variation.Identification of copy number variants defining genomic differences among major human groupsIdentification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLSIdentification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.Copy neutral loss of heterozygosity: a novel chromosomal lesion in myeloid malignanciesReciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.The breakpoint region of the most common isochromosome, i(17q), in human neoplasia is characterized by a complex genomic architecture with large, palindromic, low-copy repeatsDic(17;18)(p11.2;p11.2) is a recurring abnormality in chronic lymphocytic leukaemia associated with aggressive disease.Copy number variation in human health, disease, and evolution.Large inverted repeats within Xp11.2 are present at the breakpoints of isodicentric X chromosomes in Turner syndrome.The role of rare structural variants in the genetics of autism spectrum disorders.Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangementsScreening of Duchenne muscular dystrophy (DMD) mutations and investigating its mutational mechanism in Chinese patients.Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements.Disorders caused by chromosome abnormalities.Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome.Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.Mouse models of genomic syndromes as tools for understanding the basis of complex traits: an example with the smith-magenis and the potocki-lupski syndromesOn 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.Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over.Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders.Copy Number Variation at the APOL1 Locus.Unbalanced segregation of a complex four-break 5q23-31 insertion in the 5p13 band in a malformed child.Non-B DNA conformations, genomic rearrangements, and human disease.
P2860
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P2860
Genome architecture catalyzes nonrecurrent chromosomal rearrangements
description
2003 nî lūn-bûn
@nan
2003 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի մարտին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Genome architecture catalyzes nonrecurrent chromosomal rearrangements
@ast
Genome architecture catalyzes nonrecurrent chromosomal rearrangements
@en
type
label
Genome architecture catalyzes nonrecurrent chromosomal rearrangements
@ast
Genome architecture catalyzes nonrecurrent chromosomal rearrangements
@en
prefLabel
Genome architecture catalyzes nonrecurrent chromosomal rearrangements
@ast
Genome architecture catalyzes nonrecurrent chromosomal rearrangements
@en
P2093
P2860
P356
P1476
Genome architecture catalyzes nonrecurrent chromosomal rearrangements
@en
P2093
Christine J Shaw
James R Lupski
Jason D Dapper
Keiko Wakui
Leah Elizondo
Lisa G Shaffer
Marjorie Withers
Paweł Stankiewicz
Sung-Sup Park
P2860
P304
P356
10.1086/374385
P407
P577
2003-03-20T00:00:00Z