Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair. (Q34767093)

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5 January 2020

title

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

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7

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Pierre Blanc

14

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16

Jean-Pierre Fryns

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11

Karen Govaerts

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5 January 2020

author name string

Marijke Bauters

1

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5 January 2020

Hilde Van Esch

2

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Michael J Friez

3

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Odile Boespflug-Tanguy

4

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Martin Zenker

5

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5 January 2020

Angela M Vianna-Morgante

6

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Jaakko Ignatius

8

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Martine Raynaud

9

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Karen Hollanders

10

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Kris Vandenreijt

12

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Florence Niel

13

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5 January 2020

Roger E Stevenson

15

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5 January 2020

Peter Marynen

17

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Charles E Schwartz

18

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Guy Froyen

19

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publication date

2 April 2008

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5 January 2020

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volume

18

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5 January 2020

page(s)

847-858

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5 January 2020

issue

6

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

5 January 2020

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7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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

7 July 2018

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

7 July 2018

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7 July 2018

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7 July 2018

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

7 July 2018

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7 July 2018

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7 July 2018

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

7 July 2018

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7 July 2018

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7 July 2018

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

7 July 2018

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

7 July 2018

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

7 July 2018

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

7 July 2018

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

7 July 2018

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7 July 2018

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7 July 2018

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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

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7 July 2018

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7 July 2018

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7 July 2018

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26 October 2018

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

26 October 2018

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

26 October 2018

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26 October 2018

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

26 October 2018

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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

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

26 October 2018

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

26 October 2018

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

26 October 2018

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

9 December 2018

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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

1 reference