Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization (Q36385065)

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English	Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization	scientific article

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scholarly article

1 reference

Europe PubMed Central

13 August 2017

Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization (English)

1 reference

Europe PubMed Central

13 August 2017

James R. Lupski

11

object named as

James R Lupski

1 reference

Europe PubMed Central

13 August 2017

Patricia Hixson

2

object named as

Patricia Hixson

1 reference

Europe PubMed Central

13 August 2017

10

object named as

Sau Wai Cheung

1 reference

Europe PubMed Central

13 August 2017

author name string

Svetlana A Yatsenko

1

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Europe PubMed Central

13 August 2017

Erin K Roney

3

1 reference

Europe PubMed Central

13 August 2017

Daryl A Scott

4

1 reference

Europe PubMed Central

13 August 2017

Christian P Schaaf

5

1 reference

Europe PubMed Central

13 August 2017

Yu-tze Ng

6

1 reference

Europe PubMed Central

13 August 2017

Robbin Palmer

7

1 reference

Europe PubMed Central

13 August 2017

Richard B Fisher

8

1 reference

Europe PubMed Central

13 August 2017

Ankita Patel

9

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Europe PubMed Central

13 August 2017

publication date

14 August 2012

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Europe PubMed Central

13 August 2017

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Europe PubMed Central

13 August 2017

131

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Europe PubMed Central

13 August 2017

12

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Europe PubMed Central

13 August 2017

1895-1910

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Europe PubMed Central

13 August 2017

https://scigraph.springernature.com/pub.10.1007/s00439-012-1216-9

0 references

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493700

30 September 2017

Human telomeres replicate using chromosome-specific, rather than universal, replication programs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493700

30 September 2017

Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493700

30 September 2017

Overcoming natural replication barriers: differential helicase requirements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493700

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493700

30 September 2017

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493700

30 September 2017

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493700

30 September 2017

Constitutional tandem duplication of 9q34 that truncates EHMT1 in a child with ganglioglioma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493700

30 September 2017

Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493700

30 September 2017

Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493700

30 September 2017

Natural mutagenesis of human genomes by endogenous retrotransposons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493700

30 September 2017

LINE-1 retrotransposition activity in human genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493700

30 September 2017

Retrotransposition and structural variation in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493700

30 September 2017

Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493700

30 September 2017

High-throughput sequencing reveals extensive variation in human-specific L1 content in individual human genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493700

30 September 2017

Mechanisms of change in gene copy number

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493700

30 September 2017

Complex human chromosomal and genomic rearrangements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493700

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493700

30 September 2017

Inverted duplications deletions: underdiagnosed rearrangements??

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493700

30 September 2017

Genomic disorders ten years on.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493700

30 September 2017

Microarray-based comparative genomic hybridization using sex-matched reference DNA provides greater sensitivity for detection of sex chromosome imbalances than array-comparative genomic hybridization with sex-mismatched reference DNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493700

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493700

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493700

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493700

30 September 2017

Differential arrival of leading and lagging strand DNA polymerases at fission yeast telomeres

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493700

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493700

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493700

30 September 2017

Cryptic telomere imbalance: a 15-year update

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493700

30 September 2017

Replication and protection of telomeres

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493700

30 September 2017

Replication fork stalling at natural impediments

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493700

30 September 2017

The Stability of Broken Ends of Chromosomes in Zea Mays.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493700

30 September 2017

Global variation in copy number in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493700

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493700

30 September 2017

Chromosomal aberrations induced by double strand DNA breaks

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493700

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493700

30 September 2017

Genome architecture, rearrangements and genomic disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493700

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493700

30 September 2017

Triplication of distal chromosome 10q.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493700

30 September 2017

Intrachromosomal triplication of distal 7p.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493700

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493700

30 September 2017

Origin of Concatemeric T7DNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493700

30 September 2017

DNA synthesis generates terminal duplications that seal end-to-end chromosome fusions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493700

28 June 2018

Mobile interspersed repeats are major structural variants in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493700

28 June 2018

Partial tetrasomy with triplication of chromosome (5) (p14-p15.33) in a patient with severe multiple congenital anomalies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493700

28 June 2018

Healing of broken human chromosomes by the addition of telomeric repeats

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493700

28 June 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1216-9

21 January 2018

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.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1216-9

21 January 2018

A 400kb duplication, 2.4Mb triplication and 130kb duplication of 9q34.3 in a patient with severe mental retardation.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1216-9

21 January 2018

Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1216-9

21 January 2018

Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1216-9

21 January 2018

Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1216-9

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1216-9

21 January 2018

Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1216-9

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1216-9

21 January 2018

Deletion or triplication of the alpha 3 (VI) collagen gene in three patients with 2q37 chromosome aberrations and symptoms of collagen-related disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/22890305

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

1 reference

https://pubmed.ncbi.nlm.nih.gov/22890305

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

9q34 rearrangements in BCR/ABL fusion-negative acute lymphoblastic leukemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/22890305

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Rearrangements of chromosome 9 in different hematological neoplasia]

1 reference

https://pubmed.ncbi.nlm.nih.gov/22890305

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation

1 reference

https://pubmed.ncbi.nlm.nih.gov/22890305

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1007/S00439-012-1216-9

1 reference

Europe PubMed Central

13 August 2017

1 reference

Europe PubMed Central

13 August 2017

1 reference

Europe PubMed Central

13 August 2017

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