Characterization of terminal deletions at 7q32 and 22q13.3 healed by De novo telomere addition (Q34142619)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10924407%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

title

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

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9 November 2019

3

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9 November 2019

Nicola J Royle

series ordinal

4

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9 November 2019

author name string

Varley H

series ordinal

1

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9 November 2019

Di S

series ordinal

2

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9 November 2019

language of work or name

English

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publication date

1 August 2000

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American Journal of Human Genetics

9 November 2019

published in

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9 November 2019

volume

67

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9 November 2019

issue

3

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9 November 2019

page(s)

610-622

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The Stability of Broken Ends of Chromosomes in Zea Mays.

9 November 2019

cites work

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High levels of sequence polymorphism and linkage disequilibrium at the telomere of 12q: implications for telomere biology and human evolution.

5 July 2018

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The DNA sequence of human chromosome 22

5 July 2018

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Localization of Jacobsen syndrome breakpoints on a 40-Mb physical map of distal chromosome 11q

5 July 2018

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Molecular characterization of a common fragile site (FRA7H) on human chromosome 7 by the cloning of a simian virus 40 integration site.

5 July 2018

1 reference

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The relationship between chromosome structure and function at a human telomeric region

5 July 2018

1 reference

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

5 July 2018

1 reference

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Telomerase activity in human germline and embryonic tissues and cells.

5 July 2018

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Specific RNA residue interactions required for enzymatic functions of Tetrahymena telomerase

5 July 2018

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NIGMS human/rodent somatic cell hybrid mapping panels 1 and 2.

5 July 2018

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Isolation of human simple repeat loci by hybridization selection.

5 July 2018

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Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287521

The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

5 July 2018

1 reference

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Healing of broken human chromosomes by the addition of telomeric repeats

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287521

Mechanisms underlying telomere repeat turnover, revealed by hypervariable variant repeat distribution patterns in the human Xp/Yp telomere

5 July 2018

1 reference

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"A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum

5 July 2018

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A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287521

A highly conserved repetitive DNA sequence, (TTAGGG)n, present at the telomeres of human chromosomes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287521

The telomere terminal transferase of Tetrahymena is a ribonucleoprotein enzyme with two kinds of primer specificity

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287521

A rapid procedure for colony screening using nylon filters

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287521

The human telomere terminal transferase enzyme is a ribonucleoprotein that synthesizes TTAGGG repeats

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287521

Human telomeres contain at least three types of G-rich repeat distributed non-randomly

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287521

Oligonucleotide-priming methods for the chromosome-specific labelling of alpha satellite DNA in situ

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287521

A telomeric sequence in the RNA of Tetrahymena telomerase required for telomere repeat synthesis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287521

Structure and variability of human chromosome ends

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287521

Structure and polymorphism of human telomere-associated DNA.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287521

How does the end begin? Formation and maintenance of telomeres in ciliates and yeast

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287521

Structural and transcriptional analysis of a human subtelomeric repeat

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287521

A novel human DNA polymorphism resulting from transfer of DNA from chromosome 6 to chromosome 16.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287521

Minisatellite repeat coding as a digital approach to DNA typing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287521

Developmentally programmed healing of chromosomes by telomerase in Tetrahymena

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287521

Reconstruction and analysis of human alu genes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287521

Functional Evidence for an RNA Template in Telomerase

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287521

Partial deletion of long arm of chromosome 11[del(11)(q23)]: Jacobsen syndrome. Two new cases and review of the clinical findings

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287521

DNA sequencing with chain-terminating inhibitors

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287521

The plasticity of human telomeres demonstrated by a hypervariable telomere repeat array that is located on some copies of 16p and 16q.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287521

Sequence comparison of human and yeast telomeres identifies structurally distinct subtelomeric domains.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287521

Physical mapping of the holoprosencephaly critical region on chromosome 7q36.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287521

A subterminal satellite located adjacent to telomeres in chimpanzees is absent from the human genome

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287521

Cloning of human telomeres by complementation in yeast

28 October 2018

1 reference

12 December 2020

Recognition of a chromosome truncation site associated with α-thalassaemia by human telomerase

1 reference

12 December 2020

Tetrahymena telomerase catalyzes nucleolytic cleavage and nonprocessive elongation

1 reference

12 December 2020

[18p-Syndrome. Deletion of the short arm of chromosome 18]

1 reference

12 December 2020

Mutation rate heterogeneity and the generation of allele diversity at the human minisatellite MS205 (D16S309)

1 reference

12 December 2020

Chromosome deletion at 11q23 in an abnormal child from a family with inherited fragility at 11q23

1 reference

12 December 2020

Telomerase primer specificity and chromosome healing

1 reference

12 December 2020

Isolation of telomere junction fragments by anchored polymerase chain reaction

1 reference

12 December 2020

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

1 reference

12 December 2020

Most Jacobsen syndrome deletion breakpoints occur distal to FRA11B

1 reference

12 December 2020

Identifiers

DOI

10.1086/303050

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10924407%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10924407%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference