(Q39875477)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19271239%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

title

Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19271239%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

author

Carla Sustek D'Angelo

1

1 reference

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23 January 2020

Marzena Gajecka

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19271239%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

Chong Ae Kim

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19271239%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

author name string

Andrew J Gentles

4

1 reference

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23 January 2020

Caron D Glotzbach

5

1 reference

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23 January 2020

Lisa G Shaffer

6

1 reference

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23 January 2020

Célia P Koiffmann

7

1 reference

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23 January 2020

publication date

7 March 2009

1 reference

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23 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19271239%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

volume

125

1 reference

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23 January 2020

issue

5-6

1 reference

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23 January 2020

page(s)

551-563

1 reference

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https://scigraph.springernature.com/pub.10.1007/s00439-009-0650-9

23 January 2020

exact match

0 references

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12 December 2020

A computer aided thermodynamic approach for predicting the formation of Z-DNA in naturally occurring sequences

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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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Telomeres and chromosome instability

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Defective break-induced replication leads to half-crossovers in Saccharomyces cerevisiae

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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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12 December 2020

Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities

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12 December 2020

Population data suggest that deletions of 1p36 are a relatively common chromosome abnormality

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De novo truncation of chromosome 16p and healing with (TTAGGG)n in the alpha-thalassemia/mental retardation syndrome (ATR-16).

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The clinical utility of enhanced subtelomeric coverage in array CGH

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Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure

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12 December 2020

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

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

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Nonhomologous Robertsonian translocations form predominantly during female meiosis

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Non-B DNA conformations, genomic rearrangements, and human disease

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

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12 December 2020

Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome

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12 December 2020

Identification of cryptic imbalance in phenotypically normal and abnormal translocation carriers.

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12 December 2020

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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12 December 2020

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12 December 2020

Unexpected complexity at breakpoint junctions in phenotypically normal individuals and mechanisms involved in generating balanced translocations t(1;22)(p36;q13)

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12 December 2020

Eucaryotic genome evolution through the spontaneous duplication of large chromosomal segments

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12 December 2020

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

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12 December 2020

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12 December 2020

Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.

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12 December 2020

Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome

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12 December 2020

Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome

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12 December 2020

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

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The role of the nonhomologous end-joining DNA double-strand break repair pathway in telomere biology

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

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12 December 2020

Identification of sequence motifs at the breakpoint junctions in three t(1;9)(p36.3;q34) and delineation of mechanisms involved in generating balanced translocations

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12 December 2020

Cryptic telomere imbalance: a 15-year update

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Molecular characterization of de novo secondary trisomy 13.

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12 December 2020

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

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12 December 2020

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12 December 2020

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

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12 December 2020

Hierarchy of nonhomologous end-joining, single-strand annealing and gene conversion at site-directed DNA double-strand breaks

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12 December 2020

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

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12 December 2020

Characterization of terminal deletions at 7q32 and 22q13.3 healed by De novo telomere addition

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12 December 2020