A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease (Q36177163)

12 August 2017

title

A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease (English)

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12 August 2017

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Claude Férec

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12 August 2017

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Jian-Min Chen

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12 August 2017

Peter D Stenson

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12 August 2017

publication date

28 June 2005

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12 August 2017

language of work or name

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12 August 2017

volume

117

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issue

5

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12 August 2017

page(s)

411-427

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publication type of scholarly work

12 August 2017

review article

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Unit-length line-1 transcripts in human teratocarcinoma cells

cites work

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Crossref

https://api.crossref.org/works/10.1007%2FS00439-005-1321-0

Emergence of a brain-expressed variant melanin-concentrating hormone gene during higher primate evolution: a gene "in search of a function"

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-005-1321-0

Dispersion and insertion polymorphism in two small subfamilies of recently amplified human Alu repeats.

21 January 2018

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12 December 2020

Human L1 retrotransposition: cis preference versus trans complementation

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12 December 2020

Frequent human genomic DNA transduction driven by LINE-1 retrotransposition

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12 December 2020

AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency

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12 December 2020

Unusual mutations in Btk: an insertion, a duplication, an inversion, and four large deletions

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12 December 2020

Human L1 element target-primed reverse transcription in vitro

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12 December 2020

Human L1 retrotransposon encodes a conserved endonuclease required for retrotransposition

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12 December 2020

LINE-mediated retrotransposition of marked Alu sequences

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12 December 2020

Human LINE retrotransposons generate processed pseudogenes

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12 December 2020

Genomic deletions created upon LINE-1 retrotransposition

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12 December 2020

Reading between the LINEs: human genomic variation induced by LINE-1 retrotransposition

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12 December 2020

Active Alu element "A-tails": size does matter

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12 December 2020

Insertional Mutation by Transposable Element, L1, in the DMD Gene Results in X-linked Dilated Cardiomyopathy

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12 December 2020

Two independent retrotransposon insertions at the same site within the coding region of BTK.

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12 December 2020

More active human L1 retrotransposons produce longer insertions

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12 December 2020

Genome-wide analysis of the human Alu Yb-lineage

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12 December 2020

A genome-wide survey of human pseudogenes

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12 December 2020

Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements

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12 December 2020

CENSOR--a program for identification and elimination of repetitive elements from DNA sequences

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12 December 2020

A new exon created by intronic insertion of a rearranged LINE-1 element as the cause of chronic granulomatous disease

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12 December 2020

Meta-Analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage

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12 December 2020

Alu insertion polymorphisms for the study of human genomic diversity

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12 December 2020

Inactivation of the cholinesterase gene by Alu insertion: possible mechanism for human gene transposition

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12 December 2020

Mobile elements and mammalian genome evolution.

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12 December 2020

A comprehensive analysis of recently integrated human Ta L1 elements

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12 December 2020

Molecular pathology of haemophilia B: identification of five novel mutations including a LINE 1 insertion in Indian patients.

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12 December 2020

DNA repair mediated by endonuclease-independent LINE-1 retrotransposition

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12 December 2020

Structure and variability of recently inserted Alu family members

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12 December 2020

Deletion of the C-terminal end of aspartylglucosaminidase resulting in a lysosomal accumulation disease: evidence for a unique genomic rearrangement

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12 December 2020

Following the LINEs: an analysis of primate genomic variation at human-specific LINE-1 insertion sites

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12 December 2020

Insertion of Alu element responsible for acute intermittent porphyria

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12 December 2020

The insertional history of an active family of L1 retrotransposons in humans

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12 December 2020

Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man.

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12 December 2020

Disruption of the APC gene by a retrotransposal insertion of L1 sequence in a colon cancer

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12 December 2020

Retrotransposition of Alu elements: how many sources?

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12 December 2020

Origin of the human L1 elements: proposed progenitor genes deduced from a consensus DNA sequence

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12 December 2020

Insertion of a 5' truncated L1 element into the 3' end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy

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12 December 2020

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

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12 December 2020

The age of Alu subfamilies

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12 December 2020

Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD).

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12 December 2020

Many human L1 elements are capable of retrotransposition

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12 December 2020

Biology of Mammalian L1 Retrotransposons

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12 December 2020

A Chinese G gamma + (A gamma delta beta)zero thalassemia deletion: comparison to other deletions in the human beta-globin gene cluster and sequence analysis of the breakpoints

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12 December 2020

Identity by descent and DNA sequence variation of human SINE and LINE elements.

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12 December 2020

A de novo Alu insertion results in neurofibromatosis type 1

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12 December 2020

Molecular archeology of L1 insertions in the human genome.

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12 December 2020

Sequence patterns indicate an enzymatic involvement in integration of mammalian retroposons

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12 December 2020

Genomic characterization of recent human LINE-1 insertions: evidence supporting random insertion

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12 December 2020

Exon shuffling by L1 retrotransposition

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12 December 2020

High-affinity, non-sequence-specific RNA binding by the open reading frame 1 (ORF1) protein from long interspersed nuclear element 1 (LINE-1).

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12 December 2020

An Alu insert as the cause of a severe form of hemophilia A.

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12 December 2020

Birth of two chimeric genes in the Hominidae lineage

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12 December 2020

Active Alu elements are passed primarily through paternal germlines

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12 December 2020

Millions of years of evolution preserved: a comprehensive catalog of the processed pseudogenes in the human genome

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12 December 2020

Natural genetic variation caused by transposable elements in humans

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12 December 2020

A Genome-Wide Screen for Normally Methylated Human CpG Islands That Can Identify Novel Imprinted Genes

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12 December 2020

Hot L1s account for the bulk of retrotransposition in the human population

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12 December 2020

A 20.7 kb deletion within the factor VIII gene associated with LINE-1 element insertion

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12 December 2020

Inactivation of the Fas gene by Alu insertion: retrotransposition in an intron causing splicing variation and autoimmune lymphoproliferative syndrome.

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12 December 2020

Whole-genome screening indicates a possible burst of formation of processed pseudogenes and Alu repeats by particular L1 subfamilies in ancestral primates

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12 December 2020

Human l1 retrotransposition is associated with genetic instability in vivo

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12 December 2020

Positional cloning of the gene for X-linked retinitis pigmentosa 2

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12 December 2020

Major structural defects in the antithrombin gene in four families with type I antithrombin deficiency--partial/complete deletions and rearrangement of the antithrombin gene

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12 December 2020

Processed pseudogenes: characteristics and evolution

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12 December 2020

Full-Length L1 Elements Have Arisen Recently in the Same 1-kb Region of the Gorilla and Human Genomes

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12 December 2020

LINE-1 preTa elements in the human genome.

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12 December 2020

L1 (LINE-1) retrotransposon evolution and amplification in recent human history

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12 December 2020

Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1

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12 December 2020

Reverse Transcriptase Encoded by a Human Transposable Element

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12 December 2020

Characterization of breakpoint sequences of five rearrangements in L1CAM and ABCD1 (ALD) genes

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12 December 2020

Genomic rearrangements of the APC tumor-suppressor gene in familial adenomatous polyposis.

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12 December 2020

The L1Md long interspersed repeat family in the mouse: almost all examples are truncated at one end

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12 December 2020

Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon

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12 December 2020

Defining the beginning and end of KpnI family segments

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12 December 2020

Isolation of an active human transposable element

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12 December 2020

Hereditary desmoid disease in a family with a germline Alu I repeat mutation of the APC gene

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12 December 2020

Analysis of the human Alu Ya-lineage

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12 December 2020

A novel mobile element inserted in the alpha spectrin gene: spectrin dayton. A truncated alpha spectrin associated with hereditary elliptocytosis

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12 December 2020

Mammalian retroelements.

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12 December 2020

Two additional potential retrotransposons isolated from a human L1 subfamily that contains an active retrotransposable element

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12 December 2020

Gene repeat expansion and contraction by spontaneous intrachromosomal homologous recombination in mammalian cells

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12 December 2020

Exon skipping caused by an intronic insertion of a young Alu Yb9 element leads to severe hemophilia A.

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12 December 2020

Evidence consistent with human L1 retrotransposition in maternal meiosis I.

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12 December 2020

High frequency retrotransposition in cultured mammalian cells

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12 December 2020

Ancestral, mammalian-wide subfamilies of LINE-1 repetitive sequences

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12 December 2020

Targeting of human retrotransposon integration is directed by the specificity of the L1 endonuclease for regions of unusual DNA structure

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12 December 2020

Mutation analysis in the BRCA2 gene in primary breast cancers

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12 December 2020

Frequency of recent retrotransposition events in the human factor IX gene

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12 December 2020

LINE drive. retrotransposition and genome instability

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12 December 2020

Human genome organization: Alu, LINES, and the molecular structure of metaphase chromosome bands

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12 December 2020

Identification of a novel large F9 gene mutation-an insertion of an Alu repeated DNA element in exon e of the factor 9 gene

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12 December 2020

SVA elements are nonautonomous retrotransposons that cause disease in humans

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12 December 2020

Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1.

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12 December 2020

Tracing the LINEs of human evolution

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12 December 2020

Recently integrated Alu elements and human genomic diversity.

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12 December 2020

Trans mobilization of genomic DNA as a mechanism for retrotransposon-mediated exon shuffling

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12 December 2020

LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis

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12 December 2020

Transcriptional disruption by the L1 retrotransposon and implications for mammalian transcriptomes

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12 December 2020

Insertion of an Alu sequence in the Ca(2+)-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

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12 December 2020

Amplification of CFTR Exon 9 Sequences to Multiple Locations in the Human Genome

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12 December 2020

A deletion/insertion mutation in the BRCA2 gene in a breast cancer family: a possible role of the Alu-polyA tail in the evolution of the deletion

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12 December 2020

A new retrotransposable human L1 element from the LRE2 locus on chromosome 1q produces a chimaeric insertion

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12 December 2020

Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome

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12 December 2020

Mobile elements: drivers of genome evolution

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12 December 2020

ATLAS: a system to selectively identify human-specific L1 insertions.

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12 December 2020

Duplication, coclustering, and selection of human Alu retrotransposons

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12 December 2020

Haemophilia B due to a de novo insertion of a human-specific Alu subfamily member within the coding region of the factor IX gene

1 reference

12 December 2020

Potential Gene Conversion and Source Genes for Recently Integrated Alu Elements

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12 December 2020

Reverse transcription of R2Bm RNA is primed by a nick at the chromosomal target site: A mechanism for non-LTR retrotransposition

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12 December 2020

Length distribution of long interspersed nucleotide elements (LINEs) and processed pseudogenes of human endogenous retroviruses: implications for retrotransposition and pseudogene detection

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12 December 2020

Monophyletic origin of Alu elements in primates

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12 December 2020

Human Gene Mutation Database (HGMD): 2003 update

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12 December 2020

Large-scale analysis of pseudogenes in the human genome

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12 December 2020

Molecular mechanisms of autosomal recessive hypercholesterolemia

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12 December 2020

Alu repeats: a source for the genesis of primate microsatellites.

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12 December 2020

De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome

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12 December 2020

Alu repeats and human genomic diversity

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12 December 2020

Transduction of 3'-flanking sequences is common in L1 retrotransposition

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12 December 2020

Twin Priming: A Proposed Mechanism for the Creation of Inversions in L1 Retrotransposition

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12 December 2020

Repair by retrotransposition

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12 December 2020

Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms

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12 December 2020

Human Alu element retrotransposition induced by genotoxic stress

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12 December 2020

Standardized nomenclature for Alu repeats

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12 December 2020

Full-length human L1 insertions retain the capacity for high frequency retrotransposition in cultured cells

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12 December 2020

Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)

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12 December 2020

De novo insertion of an Alu sequence in the coding region of the CLCN5 gene results in Dent's disease

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12 December 2020

Initial sequencing and analysis of the human genome

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12 December 2020

The distribution of interspersed repeats is nonuniform and conserved in the mouse and human genomes.

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12 December 2020

A genome-wide screen for normally methylated human CpG islands that can identify novel imprinted genes

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12 December 2020

10.1007/S00439-005-1321-0

Identifiers

DOI

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12 August 2017

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