(Q36383742)

13 August 2017

Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome (English)

1 reference

13 August 2017

microdeletion syndrome

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26689541%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Mariateresa Falco

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26689541%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Anna Conti

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26689541%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Enza Mozzillo

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26689541%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Daniela Melis

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26689541%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

9

Lucio Nitsch

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26689541%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

author name string

Rita Genesio

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26689541%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Angela Mormile

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26689541%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Alberto Casertano

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26689541%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Adriana Franzese

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26689541%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

publication date

18 December 2015

1 reference

13 August 2017

Molecular Cytogenetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26689541%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

volume

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26689541%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

page(s)

96

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26689541%20AND%20SRC:MED&resulttype=core&format=json

Human Structural Variation: Mechanisms of Chromosome Rearrangements

9 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=4683855

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4683855

A familial Cri-du-Chat/5p deletion syndrome resulted from rare maternal complex chromosomal rearrangements (CCRs) and/or possible chromosome 5p chromothripsis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4683855

Pure 16q21q22.1 deletion in a complex rearrangement possibly caused by a chromothripsis event

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4683855

The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4683855

Punctuated evolution of prostate cancer genomes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4683855

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4683855

Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4683855

Massive genomic rearrangement acquired in a single catastrophic event during cancer development

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4683855

Kinetic Scaffolding Mediated by a Phospholipase C- and Gq Signaling Complex

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4683855

The effect of translocation-induced nuclear reorganization on gene expression

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4683855

Thyrocyte-specific Gq/G11 deficiency impairs thyroid function and prevents goiter development

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4683855

The role of heterotrimeric G proteins in platelet activation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4683855

Binding Sites for Epidermal Growth Factor in Human Fetal Membranes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4683855

A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4683855

Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4683855

Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline†

21 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26689541

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Constitutional chromothripsis involving chromosome 19 in a child with subtle dysmorphic features

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26689541

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/S13039-015-0199-3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26689541%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

9 June 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26689541%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

PubMed publication ID

26689541

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26689541%20AND%20SRC:MED&resulttype=core&format=json