Meta-Analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage
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Active Alu retrotransposons in the human genomeThe mechanism of expansion and the volatility it created in three pheromone gene clusters in the mouse (Mus musculus) genomeMechanisms underlying structural variant formation in genomic disordersA review of bacteria-animal lateral gene transfer may inform our understanding of diseases like cancerU6 snRNA Pseudogenes: Markers of Retrotransposition Dynamics in MammalsLINE-1 elements in structural variation and diseaseIn with the old, in with the new: the promiscuity of the duplication process engenders diverse pathways for novel gene creationExpansion of CORE-SINEs in the genome of the Tasmanian devilMolecular poltergeists: mitochondrial DNA copies (numts) in sequenced nuclear genomesResidue mutations and their impact on protein structure and function: detecting beneficial and pathogenic changes.Glycine receptor mutants of the mouse: what are possible routes of inhibitory compensation?Short template switch events explain mutation clusters in the human genome.Genome and gene alterations by insertions and deletions in the evolution of human and chimpanzee chromosome 22.Natural insertions in rice commonly form tandem duplications indicative of patch-mediated double-strand break induction and repair.Roles of retrotransposons in benign and malignant hematologic disease.Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLSFamilial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal lociThe reference human nuclear mitochondrial sequences compilation validated and implemented on the UCSC genome browser.Drosophila duplication hotspots are associated with late-replicating regions of the genomeA novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangementsClinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene.An investigation into FOXE1 polyalanine tract length in premature ovarian failure.Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.A complex rearrangement in GBE1 causes both perinatal hypoglycemic collapse and late-juvenile-onset neuromuscular degeneration in glycogen storage disease type IV of Norwegian forest cats.Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.De novo exon duplication in a new allele of mouse Glra1 (spasmodic)On 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.A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family.Aberrant firing of replication origins potentially explains intragenic nonrecurrent rearrangements within genes, including the human DMD gene.Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells.Complex human chromosomal and genomic rearrangements.Distinct roles of DNMT1-dependent and DNMT1-independent methylation patterns in the genome of mouse embryonic stem cellsA complex rearrangement in the APC gene uncovered by multiplex ligation-dependent probe amplificationThe genomic landscape of short insertion and deletion polymorphisms in the chicken (Gallus gallus) Genome: a high frequency of deletions in tandem duplicates.Do human transposable element small RNAs serve primarily as genome defenders or genome regulators?FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formationAn isolated case of lissencephaly caused by the insertion of a mitochondrial genome-derived DNA sequence into the 5' untranslated region of the PAFAH1B1 (LIS1) gene.NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlationMechanisms for human genomic rearrangements
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Meta-Analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage
description
article
@en
im Januar 2005 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в січні 2005
@uk
name
Meta-Analysis of gross inserti ...... e role of replication slippage
@en
Meta-Analysis of gross inserti ...... e role of replication slippage
@nl
type
label
Meta-Analysis of gross inserti ...... e role of replication slippage
@en
Meta-Analysis of gross inserti ...... e role of replication slippage
@nl
prefLabel
Meta-Analysis of gross inserti ...... e role of replication slippage
@en
Meta-Analysis of gross inserti ...... e role of replication slippage
@nl
P2093
P2860
P356
P1433
P1476
Meta-Analysis of gross inserti ...... e role of replication slippage
@en
P2093
Claude Férec
Jian-Min Chen
Peter D. Stenson
P2860
P304
P356
10.1002/HUMU.20133
P577
2005-01-10T00:00:00Z