Small deletion variants have stable breakpoints commonly associated with alu elements.
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Mechanisms of change in gene copy numberA deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadismHuman genes involved in copy number variation: mechanisms of origin, functional effects and implications for disease.Variation in human β-defensin genes: new insights from a multi-population studyGene copy number variation throughout the Plasmodium falciparum genome.Extreme mutation bias and high AT content in Plasmodium falciparum.Inferring combined CNV/SNP haplotypes from genotype dataA classification model for distinguishing copy number variants from cancer-related alterations.Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemiaThe Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.Etiologies and molecular mechanisms of communication disorders.Genomic profile of copy number variants on the short arm of human chromosome 8.A comparison of 100 human genes using an alu element-based instability modelIsolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation.Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.Genome architecture and its roles in human copy number variation.The contribution of alu elements to mutagenic DNA double-strand break repair.Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a familyGenomic population structure and prevalence of copy number variations in South African Nguni cattle.Heavy Metal Exposure Influences Double Strand Break DNA Repair Outcomes.Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder.Germline CDH1 deletions in hereditary diffuse gastric cancer familiesAnalysis of RP2 and RPGR Mutations in Five X-Linked Chinese Families with Retinitis Pigmentosa.Alu elements and DNA double-strand break repair.Defensin gene variation and HIV/AIDS: a comprehensive perspective needed.Copy Number Variation in Chickens: A Review and Future Prospects.RAF gene fusion breakpoints in pediatric brain tumors are characterized by significant enrichment of sequence microhomology.LINE-1 Retrotransposons in Healthy and Diseased Human Brain.Distinct subtypes of genomic PTEN deletion size influence the landscape of aneuploidy and outcome in prostate cancer.A pure familial 6q15q21 split duplication associated with obesity and transmitted with partial reduction.Identification of copy number variants on human chromosome 22 in patients with a variety of clinical findings.
P2860
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P2860
Small deletion variants have stable breakpoints commonly associated with alu elements.
description
2008 nî lūn-bûn
@nan
2008 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
name
Small deletion variants have stable breakpoints commonly associated with alu elements.
@ast
Small deletion variants have stable breakpoints commonly associated with alu elements.
@en
type
label
Small deletion variants have stable breakpoints commonly associated with alu elements.
@ast
Small deletion variants have stable breakpoints commonly associated with alu elements.
@en
prefLabel
Small deletion variants have stable breakpoints commonly associated with alu elements.
@ast
Small deletion variants have stable breakpoints commonly associated with alu elements.
@en
P2093
P2860
P50
P1433
P1476
Small deletion variants have stable breakpoints commonly associated with alu elements
@en
P2093
Adam J de Smith
Alexandra I F Blakemore
Israel Steinfeld
Zohar Yakhini
P2860
P356
10.1371/JOURNAL.PONE.0003104
P407
P577
2008-08-29T00:00:00Z