Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.
about
Mechanisms underlying structural variant formation in genomic disordersMajor influence of repetitive elements on disease-associated copy number variants (CNVs)The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veinsMechanisms for Complex Chromosomal Insertions.Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand MalformationDNA REPAIR. Mus81 and converging forks limit the mutagenicity of replication fork breakage.Sister chromatid telomere fusions, but not NHEJ-mediated inter-chromosomal telomere fusions, occur independently of DNA ligases 3 and 4.Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl SyndromeWhole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation.Break-induced replication links microsatellite expansion to complex genome rearrangements.High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles.Dual loss of human POLQ and LIG4 abolishes random integration.WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.The role of transposable elements in functional evolution of amphioxus genome: the case of opsin gene family.Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome).Warning SINEs: Alu elements, evolution of the human brain, and the spectrum of neurological disease.Doublet-Mediated DNA Rearrangement-A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic Deletions.An Organismal CNV Mutator Phenotype Restricted to Early Human Development.Madagascar ground gecko genome analysis characterizes asymmetric fates of duplicated genes.Remapping of the belted phenotype in cattle on BTA3 identifies a multiplication event as the candidate causal mutation.
P2860
Q26765934-3F48A68D-8707-47F4-B539-A93C602529CAQ28078563-4E6FA60A-2FA3-4C83-BD3C-A57ACC66157EQ30379223-3A9F74B3-95BA-488A-8FF4-34FFCE5C29CDQ33919970-862AEC72-934F-4C01-BB7D-333048F93CC9Q36202375-A50901A5-D8E7-4DC3-BBAE-7EEB37A24DDEQ36479894-FA2B8761-B822-4F0D-809F-538792A0BD7EQ36663129-46631C27-71B7-4405-A764-75B0CC005EA3Q36893804-97502F10-AA25-4C67-97DF-E6F55E49D606Q37153021-1E4A0D5E-7525-4962-99DC-71CA04F309EDQ39174818-6150F40C-CE69-4EDF-8494-B7300C215295Q39378331-C67DF420-DA64-45E3-88D9-C2506DF941B6Q39856568-46C21CAD-EF40-47A3-AA33-569730FDA884Q41001095-15A8E56D-6C03-4F66-8C0B-EE3262AD6B0FQ47252088-DAE66DE9-1B9D-4D6A-8ECB-78997BC308E1Q48095428-794F98AA-B670-4357-A16A-C06903B176B6Q49598302-CB7DFFFD-98FA-472E-B1A1-1F39124B6307Q49825852-F3DA711F-FD23-4EB4-BD36-B301B1B67963Q51240897-FDEF2EDD-7F3E-4EB1-9355-1232F4E0B63DQ52712904-14C7D4F9-DF9C-422A-9F95-39855318144FQ53692466-8FD579DE-A670-4E32-B9FD-C7E79983D4C3Q55510434-DC9393F1-952C-47A3-BC0C-43A28916670A
P2860
Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Alu-mediated diverse and compl ...... human chromosome 17 at p13.3.
@ast
Alu-mediated diverse and compl ...... human chromosome 17 at p13.3.
@en
type
label
Alu-mediated diverse and compl ...... human chromosome 17 at p13.3.
@ast
Alu-mediated diverse and compl ...... human chromosome 17 at p13.3.
@en
prefLabel
Alu-mediated diverse and compl ...... human chromosome 17 at p13.3.
@ast
Alu-mediated diverse and compl ...... human chromosome 17 at p13.3.
@en
P2093
P2860
P356
P1476
Alu-mediated diverse and compl ...... human chromosome 17 at p13.3.
@en
P2093
Ankita Patel
Ayelet Erez
Carlos A Bacino
Chad A Shaw
Christine R Beck
Claudia M B Carvalho
James R Lupski
Paweł Stankiewicz
Sandesh C S Nagamani
P2860
P304
P356
10.1093/HMG/DDV146
P577
2015-04-23T00:00:00Z