(Q41660473)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8301647%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

title

Types, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequences (English)

1 reference

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29 October 2019

2

1 reference

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29 October 2019

author name string

E Rossi

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8301647%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

M Casali

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8301647%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

C Danesino

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8301647%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

G Chiumello

5

1 reference

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29 October 2019

F Bernardi

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8301647%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

I Magnani

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8301647%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

L Papi

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8301647%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

M Mura

9

1 reference

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29 October 2019

O Zuffardi

10

1 reference

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29 October 2019

language of work or name

English

0 references

publication date

1 November 1993

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8301647%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

29 October 2019

published in

1 reference

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29 October 2019

volume

30

1 reference

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29 October 2019

page(s)

926-931

1 reference

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29 October 2019

issue

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8301647%20AND%20SRC:MED&resulttype=core&format=json

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

29 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016601

Presence of telomeric and subtelomeric sequences at the fusion points of ring chromosomes indicates that the ring syndrome is caused by ring instability.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016601

A new chromosome instability disorder.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016601

The fragile site (16) (q22). I. Induction by AT-specific DNA-ligands and population frequency

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016601

Uniparental disomy as a mechanism for human genetic disease

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016601

Telomeric repeat from T. thermophila cross hybridizes with human telomeres

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016601

Human telomeres: fusion and interstitial sites.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016601

Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans?

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016601

Segregation analysis of the X-chromosome in a family with Rett syndrome in two generations

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016601

Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016601

Developmentally programmed healing of chromosomes by telomerase in Tetrahymena

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016601

New telomere formation after developmentally regulated chromosomal breakage during the process of chromatin diminution in Ascaris lumbricoides.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016601

Aphidicolin-inducible common fragile-site expression: results from a population survey of twins

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016601

Structure and function of telomeres

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016601

Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016601

Maternal uniparental disomy for chromosome 14

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016601

The presence of interstitial telomeric sequences in constitutional chromosome abnormalities

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016601

Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016601

Centromeres--primary constrictions are primarily complicated

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016601

Centric fission of chromosome No. 4 in the mother of two patients with trisomy 4p

6 June 2018

1 reference

12 December 2020

Organization and genomic distribution of "82H" alpha satellite DNA. Evidence for a low-copy or single-copy alphoid domain located on human chromosome 14

1 reference

12 December 2020

New classes of common fragile sites induced by 5-azacytidine and bromodeoxyuridine

1 reference

12 December 2020

A possible new type of chromosome rearrangement: telomere-centromere translocation (tct) followed by double duplication

1 reference

12 December 2020

Malformation syndrome with t(2;22) in a cancer family with chromosome instability

1 reference

12 December 2020

Distribution of non-telomeric sites of the (TTAGGG)n telomeric sequence in vertebrate chromosomes

1 reference

12 December 2020

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

1 reference

12 December 2020

Interstitial hybridization sites of the (TTAGGG)n telomeric sequence on the chromosomes of some North American hylid frogs

1 reference

12 December 2020

A "hot spot" of recombination coincides with an interstitial telomeric sequence in the Armenian hamster

1 reference

12 December 2020

Cytogenetic instability in a family with gastric cancer recurrence

1 reference

12 December 2020

Parental origin effects in mice

1 reference

12 December 2020

Human telomeric 6; 19 translocation chromosome with a tendency to break at the fusion point

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.30.11.926

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8301647%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8301647%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

1 reference