(Q51912360)

17 April 2018

title

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

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17 April 2018

author

Frank Kooy

series ordinal

3

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17 April 2018

author name string

Liesbeth Rooms

series ordinal

1

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17 April 2018

Edwin Reyniers

series ordinal

2

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17 April 2018

publication date

1 February 2007

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17 April 2018

published in

Human Mutation

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17 April 2018

volume

28

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17 April 2018

issue

2

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17 April 2018

page(s)

177-182

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17 April 2018

Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs

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

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

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7 January 2021

Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangements.

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Alu repeats and human disease

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7 January 2021

The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

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7 January 2021

Chromosomal stabilisation by a subtelomeric rearrangement involving two closely related Alu elements.

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7 January 2021

The use of telomere probes to investigate submicroscopic rearrangements associated with mental retardation.

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7 January 2021

A palindrome-mediated mechanism distinguishes translocations involving LCR-B of chromosome 22q11.2

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7 January 2021

Maintenance of genome stability in Saccharomyces cerevisiae

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Cruciform DNA structure underlies the etiology for palindrome-mediated human chromosomal translocations

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7 January 2021

Detection of breakpoints in submicroscopic chromosomal translocation, illustrating an important mechanism for genetic disease

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7 January 2021

THE COMPLEX STRUCTURE AND DYNAMIC EVOLUTION OF HUMAN SUBTELOMERES

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Repeat instability: mechanisms of dynamic mutations

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Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA).

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7 January 2021

Subtelomeric rearrangements in the mentally retarded: a comparison of detection methods.

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7 January 2021

Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics.

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7 January 2021

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

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7 January 2021

A truncated human chromosome 16 associated with α thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)n

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7 January 2021

Identifiers

DOI

10.1002/HUMU.20421

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17 April 2018

1 reference

17 April 2018