(Q34767093)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18385275%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

title

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18385275%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

7

1 reference

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5 January 2020

Pierre Blanc

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18385275%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

16

Jean-Pierre Fryns

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18385275%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

11

Karen Govaerts

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18385275%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

author name string

Marijke Bauters

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18385275%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Hilde Van Esch

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18385275%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Michael J Friez

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18385275%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Odile Boespflug-Tanguy

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18385275%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Martin Zenker

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18385275%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Angela M Vianna-Morgante

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18385275%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Jaakko Ignatius

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18385275%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Martine Raynaud

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18385275%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Karen Hollanders

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18385275%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Kris Vandenreijt

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18385275%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Florence Niel

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18385275%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Roger E Stevenson

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18385275%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Peter Marynen

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18385275%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Charles E Schwartz

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18385275%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Guy Froyen

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18385275%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

publication date

2 April 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18385275%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18385275%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

volume

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18385275%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18385275%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

page(s)

847-858

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18385275%20AND%20SRC:MED&resulttype=core&format=json

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

5 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413152

X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413152

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413152

Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413152

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413152

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413152

A palindrome-driven complex rearrangement of 22q11.2 and 8q24.1 elucidated using novel technologies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413152

Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413152

Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413152

Human genomic deletions mediated by recombination between Alu elements.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413152

Break-induced replication and recombinational telomere elongation in yeast

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413152

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413152

Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413152

Recent advances in array comparative genomic hybridization technologies and their applications in human genetics

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413152

Identification of disease genes by whole genome CGH arrays

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413152

Comparative genomic hybridization

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413152

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413152

Functional disomy of the Xq28 chromosome region

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413152

Gene conversion and evolution of Xq28 duplicons involved in recurring inversions causing severe hemophilia A

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413152

Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413152

Eucaryotic genome evolution through the spontaneous duplication of large chromosomal segments

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413152

Genetics of color vision deficiencies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413152

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413152

The role of Alu repeat clusters as mediators of recurrent chromosomal aberrations in tumors

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413152

Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413152

Physical and genetic characterization reveals a pseudogene, an evolutionary junction, and unstable loci in distal Xq28.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413152

Break-induced replication: a review and an example in budding yeast

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413152

Coupled homologous and nonhomologous repair of a double-strand break preserves genomic integrity in mammalian cells

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413152

Interspersed repeats and other mementos of transposable elements in mammalian genomes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413152

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413152

Emerin deletions occurring on both Xq28 inversion backgrounds

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413152

Mechanisms of tandem duplication in the Duchenne muscular dystrophy gene include both homologous and nonhomologous intrachromosomal recombination

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413152

Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413152

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413152

Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413152

Diverse chromosome breakage mechanisms underlie subtelomeric rearrangements, a common cause of mental retardation.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413152

Genome structural variation and sporadic disease traits

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413152

X chromosome array-CGH for the identification of novel X-linked mental retardation genes.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413152

Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413152

Distance from the chromosome end determines the efficiency of double strand break repair in subtelomeres of haploid yeast

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413152

XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413152

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413152

Juxtaposed regions of extensive and minimal linkage disequilibrium in human Xq25 and Xq28

9 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413152

Rapid molecular cloning of rearrangements of the IGHJ locus using long-distance inverse polymerase chain reaction

9 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18385275

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The origin of chromosome imbalances in neuroblastoma

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18385275

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18385275

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1101/GR.075903.107

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18385275%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18385275%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

PubMed publication ID

18385275

1 reference