(Q79843981)

English

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

scientific article published on 01 January 2004

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scholarly article

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15053483%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

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

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15053483%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

Marzena Gajecka

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15053483%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

author name string

Blake C Ballif

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15053483%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

Lisa G Shaffer

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15053483%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

publication date

1 January 2004

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15053483%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

Chromosome Research

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15053483%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

12

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15053483%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15053483%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

133-141

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15053483%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

https://scigraph.springernature.com/pub.10.1023/b:chro.0000013165.88969.10

0 references

Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053483

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053483

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053483

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chromosome break-induced DNA replication leads to nonreciprocal translocations and telomere capture.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053483

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053483

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

FISH analysis of terminal deletions in patients diagnosed with cri-du-chat syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053483

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Maintenance of genome stability in Saccharomyces cerevisiae

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053483

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Use of inverse PCR to amplify and sequence breakpoints of HPRT deletion and translocation mutations.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053483

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chromosome breakage hotspots and delineation of the critical region for the 9p-deletion syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053483

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Frequent chromosomal translocations induced by DNA double-strand breaks

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053483

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Telomeres and their control

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053483

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An 18q- syndrome breakpoint resides between the duplicated serpins SCCA1 and SCCA2 and arises via a cryptic rearrangement with satellite III DNA.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053483

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Healing of broken human chromosomes by the addition of telomeric repeats

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053483

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053483

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nonhomologous Robertsonian translocations form predominantly during female meiosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053483

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genome architecture, rearrangements and genomic disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053483

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053483

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alu repeats and human disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053483

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of cryptic rearrangements in patients with 18q- deletion syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053483

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053483

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053483

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/15053483

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

FISHing for mechanisms of cytogenetically defined terminal deletions using chromosome-specific subtelomeric probes.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053483

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Minisatellite instability and germline mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053483

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Telomere capture stabilizes chromosome breakage

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053483

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053483

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053483

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053483

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence for replicative repair of DNA double-strand breaks leading to oncogenic translocation and gene amplification

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053483

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053483

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular mechanisms for constitutional chromosomal rearrangements in humans

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053483

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Interstitial deletions and intrachromosomal amplification initiated from a double-strand break targeted to a mammalian chromosome

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053483

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

AT-rich palindromes mediate the constitutional t(11;22) translocation.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053483

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mechanisms of chromosome-end protection

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053483

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Instability of repetitive DNA sequences: the role of replication in multiple mechanisms

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053483

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DOP-vector PCR: a method for rapid isolation and sequencing of insert termini from PAC clones

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053483

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The constitutional t(17;22): another translocation mediated by palindromic AT-rich repeats

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053483

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053483

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053483

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Initial sequencing and analysis of the human genome

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053483

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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