(Q41822254)

12 October 2017

Telomere shortening and telomere position effect in mild ring 17 syndrome (English)

1 reference

12 October 2017

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24393457%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Cecilia Surace

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24393457%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Francesco Berardinelli

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24393457%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Andrea Masotti

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24393457%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Raffaella Cusmai

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24393457%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

author name string

Maria Cristina Roberti

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24393457%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Letizia Da Sacco

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24393457%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Gemma D'Elia

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24393457%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Pietro Sirleto

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24393457%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Maria Cristina Digilio

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24393457%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Simona Grotta

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24393457%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Stefano Petrocchi

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24393457%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

May El Hachem

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24393457%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Elisa Pisaneschi

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24393457%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Laura Ciocca

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24393457%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Serena Russo

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24393457%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Antonella Sgura

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24393457%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Adriano Angioni

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24393457%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

publication date

7 January 2014

1 reference

12 October 2017

Epigenetics & Chromatin

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24393457%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

volume

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24393457%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24393457%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

page(s)

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24393457%20AND%20SRC:MED&resulttype=core&format=json

Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome.

13 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3892072

Mild ring 17 syndrome shares common phenotypic features irrespective of the chromosomal breakpoints location.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3892072

Telomere position effect and silencing of transgenes near telomeres in the mouse.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3892072

Inherited ring chromosome 8 without loss of subtelomeric sequences

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3892072

Genomic analysis of facioscapulohumeral muscular dystrophy

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3892072

Long-range silencing and position effects at telomeres and centromeres: parallels and differences

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3892072

Quantifying Telomere Lengths of Human Individual Chromosome Arms by Centromere-Calibrated Fluorescence in Situ Hybridization and Digital Imaging

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3892072

Perturbations of chromatin structure in human genetic disease: recent advances.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3892072

Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3892072

Further delineation of the chromosome 14q terminal deletion syndrome

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3892072

Transcriptional silencing at Saccharomyces telomeres: implications for other organisms

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3892072

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3892072

Molecular genetics of facioscapulohumeral muscular dystrophy (FSHD)

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3892072

Inherited ring chromosomes: an analysis of published cases

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3892072

Transient activation of the ALT pathway in human primary fibroblasts exposed to high-LET radiation.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3892072

Molecular cloning and analysis of breakpoints on ring chromosome 17 in a patient with autism.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3892072

A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3892072

Utility of subtelomeric fluorescent DNA probes for detection of chromosome anomalies in 425 patients.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3892072

Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3892072

Telomere position effect in human cells

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3892072

Does "ring syndrome" exist? An analysis of 207 case reports on patients with a ring autosome

18 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24393457

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Ring syndrome caused by ring chromosome 7 without loss of subtelomeric sequences

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24393457

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1756-8935-7-1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24393457%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

13 June 2020

1 reference

9 September 2019

https://scigraph.springernature.com/pub.10.1186/1756-8935-7-1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24393457%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

PubMed publication ID

24393457

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24393457%20AND%20SRC:MED&resulttype=core&format=json