(Q41774584)

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Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients.

scientific article published on 11 May 2017

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scholarly article

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20 March 2020

Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients (English)

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20 March 2020

congenital disorder

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microdeletion syndrome

1 reference

based on heuristic

inferred from title

Felipe Benavides

2

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20 March 2020

Guillermo Lay-Son

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20 March 2020

author name string

Luis E León

1

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20 March 2020

Karena Espinoza

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20 March 2020

Cecilia Vial

4

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Patricia Alvarez

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20 March 2020

Mirta Palomares

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20 March 2020

Macarena Miranda

8

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20 March 2020

Gabriela M Repetto

9

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11 May 2017

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20 March 2020

Scientific Reports

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20 March 2020

7

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20 March 2020

1795

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20 March 2020

1

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20 March 2020

copyright license

Creative Commons Attribution 4.0 International

11 May 2017

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April 2022 Public Data File from Crossref

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Cytoscape

CytoScape

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

https://scigraph.springernature.com/pub.10.1038/s41598-017-01896-w

0 references

22q11.2 deletion syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5431949

6 June 2018

Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5431949

6 June 2018

Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5431949

6 June 2018

Chromosome 17q21.31 duplication syndrome: Description of a new familiar case and further delineation of the clinical spectrum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5431949

6 June 2018

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5431949

6 June 2018

22q11 deletion syndrome: current perspective

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5431949

6 June 2018

Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome

1 reference

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6 June 2018

Genetic structure characterization of Chileans reflects historical immigration patterns

1 reference

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6 June 2018

Epigenetic mechanisms in heart development and disease

1 reference

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6 June 2018

Clinical interpretation of CNVs with cross-species phenotype data

1 reference

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6 June 2018

Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5431949

6 June 2018

Decreased DGCR8 expression and miRNA dysregulation in individuals with 22q11.2 deletion syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5431949

6 June 2018

Chromatin modifications remodel cardiac gene expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5431949

6 June 2018

Structural analysis of the KANSL1/WDR5/KANSL2 complex reveals that WDR5 is required for efficient assembly and chromatin targeting of the NSL complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5431949

6 June 2018

A case of 17q21.31 microduplication and 7q31.33 microdeletion, associated with developmental delay, microcephaly, and mild dysmorphic features.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5431949

6 June 2018

De novo mutations in histone-modifying genes in congenital heart disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5431949

6 June 2018

ParseCNV integrative copy number variation association software with quality tracking.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5431949

6 June 2018

Genotype-phenotype correlation in 22q11.2 deletion syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5431949

6 June 2018

Copy number variants in candidate genes are genetic modifiers of Hirschsprung disease

1 reference

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6 June 2018

miRWalk--database: prediction of possible miRNA binding sites by "walking" the genes of three genomes

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6 June 2018

dmGWAS: dense module searching for genome-wide association studies in protein-protein interaction networks

1 reference

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6 June 2018

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

1 reference

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6 June 2018

The GeneMANIA prediction server: biological network integration for gene prioritization and predicting gene function

1 reference

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6 June 2018

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

1 reference

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6 June 2018

Subunit composition and substrate specificity of a MOF-containing histone acetyltransferase distinct from the male-specific lethal (MSL) complex

1 reference

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6 June 2018

Network-based model weighting to detect multiple loci influencing complex diseases

1 reference

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6 June 2018

Genetic modifiers of the physical malformations in velo-cardio-facial syndrome/DiGeorge syndrome

1 reference

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6 June 2018

Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements

1 reference

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6 June 2018

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

1 reference

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6 June 2018

Copy-number variation and association studies of human disease

1 reference

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6 June 2018

A human phenome-interactome network of protein complexes implicated in genetic disorders

1 reference

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6 June 2018

The UCSC Genome Browser Database: update 2006

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Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

1 reference

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6 June 2018

Cytoscape: a software environment for integrated models of biomolecular interaction networks

1 reference

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6 June 2018

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

1 reference

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6 June 2018

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18 August 2018

Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies.

1 reference

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18 August 2018

A significant effect of the TSPY1 copy number on spermatogenesis efficiency and the phenotypic expression of the gr/gr deletion

1 reference

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18 August 2018

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.

1 reference

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18 August 2018

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1 reference

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18 August 2018

Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2.

1 reference

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18 August 2018

Identifiers

10.1038/S41598-017-01896-W

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Europe PubMed Central

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20 March 2020

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Europe PubMed Central

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20 March 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28496102%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

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