Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3. (Q35766412)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25908615%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

title

Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3. (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25908615%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25908615%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25908615%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

James R Lupski

1 reference

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6 March 2020

Carlos A Bacino

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25908615%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Paweł Stankiewicz

1 reference

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6 March 2020

Sau Wai Cheung

1 reference

6 March 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25908615%20AND%20SRC:MED&resulttype=core&format=json

Bo Yuan

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25908615%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Christine R Beck

1 reference

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6 March 2020

Claudia M B Carvalho

1 reference

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6 March 2020

Sandesh C S Nagamani

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25908615%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Ayelet Erez

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25908615%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Ankita Patel

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25908615%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Chad A Shaw

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25908615%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Weimin Bi

1 reference

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6 March 2020

publication date

23 April 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25908615%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

published in

Human Molecular Genetics

1 reference

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6 March 2020

volume

1 reference

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6 March 2020

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25908615%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

page(s)

4061-4077

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25908615%20AND%20SRC:MED&resulttype=core&format=json

Mechanism of microhomology-mediated end-joining promoted by human DNA polymerase θ

6 March 2020

cites work

1 reference

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Chromosome rearrangements via template switching between diverged repeated sequences

2 October 2017

1 reference

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Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications.

2 October 2017

1 reference

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Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders

2 October 2017

1 reference

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The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles

2 October 2017

1 reference

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Genome-wide high-resolution mapping of chromosome fragile sites in Saccharomyces cerevisiae

2 October 2017

1 reference

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Nascent DNA synthesis during homologous recombination is synergistically promoted by the rad51 recombinase and DNA homology

2 October 2017

1 reference

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Alu elements: an intrinsic source of human genome instability

2 October 2017

1 reference

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Replicative mechanisms for CNV formation are error prone

2 October 2017

1 reference

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Migrating bubble during break-induced replication drives conservative DNA synthesis

2 October 2017

1 reference

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Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays

2 October 2017

1 reference

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Break-induced replication: functions and molecular mechanism

2 October 2017

1 reference

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Mobile element scanning (ME-Scan) identifies thousands of novel Alu insertions in diverse human populations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization

2 October 2017

1 reference

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Chromothripsis and human disease: piecing together the shattering process.

2 October 2017

1 reference

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Alu elements: know the SINEs

2 October 2017

1 reference

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Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD)

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

Evidence for disease penetrance relating to CNV size: Pelizaeus–Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

Massive genomic rearrangement acquired in a single catastrophic event during cancer development

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

Structural variation of the human genome: mechanisms, assays, and role in male infertility

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

Competitive repair by naturally dispersed repetitive DNA during non-allelic homologous recombination

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

A human genome structural variation sequencing resource reveals insights into mutational mechanisms

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

A common molecular mechanism underlies two phenotypically distinct 17p13.1 microdeletion syndromes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

Detection of clinically relevant exonic copy-number changes by array CGH.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

Mechanisms of change in gene copy number

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture

2 October 2017

1 reference

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The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

2 October 2017

1 reference

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Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome

2 October 2017

1 reference

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A microhomology-mediated break-induced replication model for the origin of human copy number variation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

Increased LIS1 expression affects human and mouse brain development

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

L1 recombination-associated deletions generate human genomic variation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

MMEJ repair of double-strand breaks (director's cut): deleted sequences and alternative endings

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

Double-strand breaks associated with repetitive DNA can reshape the genome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

The complete genome of an individual by massively parallel DNA sequencing

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

Identification of a novel human Rad51 variant that promotes DNA strand exchange

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

Alu elements mediate MYB gene tandem duplication in human T-ALL

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

Inviting instability: Transposable elements, double-strand breaks, and the maintenance of genome integrity.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

Human genomic deletions mediated by recombination between Alu elements.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

Human subtelomeres are hot spots of interchromosomal recombination and segmental duplication

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

Mechanism and regulation of human non-homologous DNA end-joining

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

The human genome browser at UCSC

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

Alu repeats and human genomic diversity

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

Initial sequencing and analysis of the human genome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

Alu repeats and human disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

Multiple pathways of recombination induced by double-strand breaks in Saccharomyces cerevisiae

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

The partial tandem duplication of ALL1 (MLL) is consistently generated by Alu-mediated homologous recombination in acute myeloid leukemia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

Evidence for transposition of dispersed repetitive DNA families in yeast

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

Healing of broken human chromosomes by the addition of telomeric repeats

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

Evolution of the master Alu gene(s)

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

A prenatal case of split-hand malformation associated with 17p13.3 triplication - a dilemma in genetic counseling

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

Chromosomal translocations in yeast induced by low levels of DNA polymerase a model for chromosome fragile sites.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

Molecular description of three macro-deletions and an Alu-Alu recombination-mediated duplication in the HPRT gene in four patients with Lesch-Nyhan disease

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

Cryptic pericentric inversion of chromosome 17 detected by fluorescence in situ hybridization study in familial Miller-Dieker syndrome

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

The yeast transposon Ty1 generates duplications of target DNA on insertion

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476451

High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis

25 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDV146

Monosomy 1p36 breakpoints indicate repetitive DNA sequence elements may be involved in generating and/or stabilizing some terminal deletions

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25908615

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The clinical utility of enhanced subtelomeric coverage in array CGH

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25908615

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDV146

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25908615%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25908615%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

PubMed publication ID

25908615

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25908615%20AND%20SRC:MED&resulttype=core&format=json