Chromothripsis in healthy individuals affects multiple protein-coding genes and can result in severe congenital abnormalities in offspring.
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Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome RearrangementsComprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability.Unbalanced translocations arise from diverse mutational mechanisms including chromothripsis.Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.Chromoanasynthetic Genomic Rearrangement Identified in a N-Ethyl-N-Nitrosourea (ENU) Mutagenesis Screen in Caenorhabditis elegans.Human Structural Variation: Mechanisms of Chromosome Rearrangements.Catastrophic cellular events leading to complex chromosomal rearrangements in the germline.Kinetochore Malfunction in Human Pathologies.Mapping and phasing of structural variation in patient genomes using nanopore sequencing.Living Organisms Author Their Read-Write Genomes in Evolution.A germline chromothripsis event stably segregating in 11 individuals through three generations.Missing Links Between Genetically Inherited Molecules in Split Cord Malformation and Other Anomaly: A Bench to Bedside Approach.Stable transmission of an unbalanced chromosome 21 derived from chromoanasynthesis in a patient with a likely pathogenic variant
P2860
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P2860
Chromothripsis in healthy individuals affects multiple protein-coding genes and can result in severe congenital abnormalities in offspring.
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
Chromothripsis in healthy indi ...... al abnormalities in offspring.
@en
Chromothripsis in healthy indi ...... al abnormalities in offspring.
@nl
type
label
Chromothripsis in healthy indi ...... al abnormalities in offspring.
@en
Chromothripsis in healthy indi ...... al abnormalities in offspring.
@nl
prefLabel
Chromothripsis in healthy indi ...... al abnormalities in offspring.
@en
Chromothripsis in healthy indi ...... al abnormalities in offspring.
@nl
P2093
P2860
P1476
Chromothripsis in healthy indi ...... al abnormalities in offspring.
@en
P2093
Annette F Baas
Ellen van Binsbergen
Ivo Renkens
Karen J Duran
Lars T van der Veken
Markus J van Roosmalen
Masoumeh Tavakoli-Yaraki
Mirjam S de Pagter
Ron Hochstenbach
Wigard P Kloosterman
P2860
P304
P356
10.1016/J.AJHG.2015.02.005
P407
P50
P577
2015-03-19T00:00:00Z