Understanding the impact of 1q21.1 copy number variant (Q21202865)

20

object named as

Evica Rajcan-Separovic

Evica

Rajcan-Separovic

1 reference

18 August 2022

Mark O'Driscoll

19

Mark

O'Driscoll

1 reference

18 August 2022

Paul Pavlidis

15

Paul

Pavlidis

1 reference

18 August 2022

Chansonette Harvard

1

Chansonette

Harvard

1 reference

18 August 2022

Emma Strong

2

Emma

Strong

1 reference

18 August 2022

Eloi Mercier

3

Eloi

Mercier

1 reference

18 August 2022

Rita Colnaghi

4

Rita

Colnaghi

1 reference

18 August 2022

Diana Alcantara

5

Diana

Alcantara

1 reference

18 August 2022

Eva Chow

6

Eva

Chow

1 reference

18 August 2022

Sally Martell

7

Sally

Martell

1 reference

18 August 2022

Christine Tyson

8

Christine

Tyson

1 reference

18 August 2022

Monica Hrynchak

9

Monica

Hrynchak

1 reference

18 August 2022

Barbara McGillivray

10

Barbara

McGillivray

1 reference

18 August 2022

Sara Hamilton

11

Sara

Hamilton

1 reference

18 August 2022

Sandra Marles

12

Sandra

Marles

1 reference

18 August 2022

Aziz Mhanni

13

Aziz

Mhanni

1 reference

18 August 2022

Angelika J Dawson

14

Angelika J

Dawson

1 reference

18 August 2022

Ying Qiao

16

Ying

Qiao

1 reference

18 August 2022

Jeanette J Holden

17

Jeanette J

Holden

1 reference

18 August 2022

Suzanne M E Lewis

18

Suzanne ME

Lewis

1 reference

Orphanet Journal of Rare Diseases

18 August 2022

language of work or name

English

0 references

publication date

2011

0 references

published in

0 references

volume

6

0 references

page(s)

54

0 references

issue

1

0 references

describes a project that uses

limma

object named as

limma

2 references

Europe PubMed Central

22 June 2022

https://europepmc.org/article/PMC/3180300

based on heuristic

inferred from PubMed Central ID database lookup

CZ Software Mentions: A large dataset of software mentions in the biomedical literature

exact match

https://scigraph.springernature.com/pub.10.1186/1750-1172-6-54

0 references

cites work

BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1

1 reference

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Poly(ADP-ribosyl)ation directs recruitment and activation of an ATP-dependent chromatin remodeler

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180300

Poly(ADP-ribose)-dependent regulation of DNA repair by the chromatin remodeling enzyme ALC1

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180300

AMPK in the brain: its roles in energy balance and neuroprotection

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180300

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180300

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180300

Large recurrent microdeletions associated with schizophrenia

19 March 2017

1 reference

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Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180300

Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180300

mTOR interacts with raptor to form a nutrient-sensitive complex that signals to the cell growth machinery

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180300

Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180300

Linear models and empirical bayes methods for assessing differential expression in microarray experiments

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180300

Confirmed rare copy number variants implicate novel genes in schizophrenia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180300

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180300

Activation of mammalian target of rapamycin signaling in spatial learning

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180300

AMP-activated protein kinase: ancient energy gauge provides clues to modern understanding of metabolism

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180300

Molecular mechanisms of micronucleus, nucleoplasmic bridge and nuclear bud formation in mammalian and human cells

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180300

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180300

Phenotypic variability and genetic susceptibility to genomic disorders

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180300

Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis Syndrome

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180300

Topoisomerase IIalpha maintains genomic stability through decatenation G(2) checkpoint signaling

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180300

Gene function analysis in complex data sets using ErmineJ.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180300

Dosage sensitivity shapes the evolution of copy-number varied regions.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180300

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180300

Transgenic CHD1L expression in mouse induces spontaneous tumors

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180300

Copy number variation influences gene expression and metabolic traits in mice

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180300

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180300

Human DNA damage response and repair deficiency syndromes: linking genomic instability and cell cycle checkpoint proficiency

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180300

Copy number variants, diseases and gene expression

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180300

AMP-activated protein kinase phosphorylates retinoblastoma protein to control mammalian brain development

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180300

Genomic landscape of a three-generation pedigree segregating affective disorder

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180300

Genetic and epigenetic defects in mental retardation.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180300

The decatenation checkpoint

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180300

Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180300

Differences in malsegregation rates obtained by scoring ana-telophases or binucleate cells

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180300

Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180300

Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease.

30 May 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-54

Gene dosage in the developing and adult brain in a mouse model of 22q11 deletion syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-54

Outcome of array CGH analysis for 255 subjects with intellectual disability and search for candidate genes using bioinformatics.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-54

PARylation: strengthening the connection between cancer and pluripotency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-54

The G2-phase decatenation checkpoint is defective in Werner syndrome cells

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180300

Molecular characterization of 22q11 deletion in a three-generation family with maternal transmission.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180300

29 November 2018

Identifiers

DOI

10.1186/1750-1172-6-54

1 reference

1041705

0 references

1041705

1 reference

1 reference

1 reference