(Q35606491)

9 August 2017

title

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

1 reference

9 August 2017

author

Claudia Gonzaga-Jauregui

5

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9 August 2017

18

1 reference

9 August 2017

Davut Pehlivan

3

0 references

Huda Zoghbi

object named as

Huda Y Zoghbi

19

0 references

James R. Lupski

21

object named as

James R Lupski

1 reference

9 August 2017

17

Sau Wai Cheung

1 reference

9 August 2017

2

Melissa B Ramocki

1 reference

9 August 2017

9

Stacy Hines-Dowell

1 reference

9 August 2017

Claudia M B Carvalho

1

1 reference

9 August 2017

Luis M Franco

4

1 reference

9 August 2017

Ping Fang

6

1 reference

9 August 2017

Alanna McCall

7

1 reference

9 August 2017

Eniko Karman Pivnick

8

1 reference

9 August 2017

Laurie H Seaver

10

1 reference

9 August 2017

Linda Friehling

11

1 reference

9 August 2017

Sansan Lee

12

1 reference

9 August 2017

Rosemarie Smith

13

1 reference

9 August 2017

Daniela Del Gaudio

14

1 reference

9 August 2017

Marjorie Withers

15

1 reference

9 August 2017

Pengfei Liu

16

1 reference

9 August 2017

P J Hastings

20

1 reference

9 August 2017

language of work or name

English

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publication date

2 October 2011

1 reference

9 August 2017

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9 August 2017

volume

43

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9 August 2017

issue

11

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9 August 2017

page(s)

1074-1081

1 reference

Co-directional replication-transcription conflicts lead to replication restart

9 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235474

Break-induced replication is highly inaccurate

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235474

Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235474

Fusion of nearby inverted repeats by a replication-based mechanism leads to formation of dicentric and acentric chromosomes that cause genome instability in budding yeast

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235474

Mechanisms of change in gene copy number

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235474

Complex human chromosomal and genomic rearrangements

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235474

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235474

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235474

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235474

Replication stalling at unstable inverted repeats: interplay between DNA hairpins and fork stabilizing proteins

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235474

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235474

A recurrent inversion on the eutherian X chromosome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235474

The mechanism of human nonhomologous DNA end joining

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235474

Double complex mutations involving F8 and FUNDC2 caused by distinct break-induced replication

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235474

Live-cell imaging reveals replication of individual replicons in eukaryotic replication factories

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235474

On the mechanism of gene amplification induced under stress in Escherichia coli

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235474

DNA replication origin plasticity and perturbed fork progression in human inverted repeats

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235474

Mechanisms of transcription-replication collisions in bacteria

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235474

Haploview: analysis and visualization of LD and haplotype maps

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235474

alpha-Synuclein locus triplication causes Parkinson's disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235474

Recent segmental duplications in the human genome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235474

Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on Brain

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235474

"Break copy" duplication: a model for chromosome fragment formation in Saccharomyces cerevisiae

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235474

Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235474

Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235474

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235474

Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235474

The MECP2 duplication 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=3235474

Nearby inverted repeats fuse to generate acentric and dicentric palindromic chromosomes by a replication template exchange mechanism.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235474

A triplication of the Williams-Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235474

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235474

Template switching during break-induced replication

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235474

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235474

Break-induced replication and recombinational telomere elongation in yeast

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235474

Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235474

Mechanism of intrachromosomal triplications 15q11-q13: a new clinical report.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235474

Intrachromosomal triplication of 2q11.2-q21 in a severely malformed infant: case report and review of triplications and their possible mechanism

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235474

25 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.944

Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.944

Intrachromosomal triplications: molecular cytogenetic and clinical studies

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21964572

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Prenatal diagnosis of PLP1 copy number by array comparative genomic hybridization

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21964572

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.944

1 reference

Dimensions Publication ID

9 August 2017

0 references

1 reference

9 August 2017

1 reference