Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.
about
Mechanisms underlying structural variant formation in genomic disordersStructural variation mutagenesis of the human genome: Impact on disease and evolution.Applicability of digital PCR to the investigation of pediatric-onset genetic disordersNoncanonical views of homology-directed DNA repairMechanisms for Complex Chromosomal Insertions.Translesion Polymerases Drive Microhomology-Mediated Break-Induced Replication Leading to Complex Chromosomal Rearrangements.Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand MalformationHuman Structural Variation: Mechanisms of Chromosome Rearrangements.PMS2 inactivation by a complex rearrangement involving an HERV retroelement and the inverted 100-kb duplicon on 7p22.1.Double, Double Toil and Trouble.Of Simple and Complex Genome Rearrangements, Chromothripsis, Chromoanasynthesis, and Chromosome Chaos.Genomic disorders 20 years on-mechanisms for clinical manifestations.Nanopore sequencing of complex genomic rearrangements in yeast reveals mechanisms of repeat-mediated double-strand break repair.Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage-sensitive genes with clinical severity in genomic disorders.Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes.Break induced replication in eukaryotes: mechanisms, functions, and consequences.Partial tetrasomy 11q resulting from an intrachromosomal triplication of a 22 Mb region of chromosome 11.A de novo microtriplication at 4q21.21-q21.22 in a patient with a vascular malignant hemangioma, elongated sigmoid colon, developmental delay, and absence of speech.
P2860
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P2860
Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.
description
2015 nî lūn-bûn
@nan
2015 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի մարտին հրատարակված գիտական հոդված
@hy
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
name
Complex genomic rearrangements ...... plication and quadruplication.
@ast
Complex genomic rearrangements ...... plication and quadruplication.
@en
type
label
Complex genomic rearrangements ...... plication and quadruplication.
@ast
Complex genomic rearrangements ...... plication and quadruplication.
@en
prefLabel
Complex genomic rearrangements ...... plication and quadruplication.
@ast
Complex genomic rearrangements ...... plication and quadruplication.
@en
P2093
P2860
P1433
P1476
Complex genomic rearrangements ...... plication and quadruplication.
@en
P2093
Christine R Beck
Claudia M B Carvalho
Danielle Stubbolo
Grace M Hobson
James R Lupski
James Y Garbern
Karen Sperle
Linda Banser
Marco Henneke
P2860
P304
P356
10.1371/JOURNAL.PGEN.1005050
P577
2015-03-06T00:00:00Z