(Q34533498)

2 August 2017

title

Enhancer chip: detecting human copy number variations in regulatory elements (English)

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2 August 2017

Marco Savarese

1

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Giulio Piluso

object named as

Giulio Piluso

2

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Vincenzo Nigro

object named as

Vincenzo Nigro

12

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author name string

Daniela Orteschi

3

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2 August 2017

Giuseppina Di Fruscio

4

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2 August 2017

Manuela Dionisi

5

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2 August 2017

Francesca del Vecchio Blanco

6

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2 August 2017

Annalaura Torella

7

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2 August 2017

Teresa Giugliano

8

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2 August 2017

Michele Iacomino

9

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2 August 2017

Marcella Zollino

10

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2 August 2017

Giovanni Neri

11

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2 August 2017

language of work or name

English

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publication date

20 December 2012

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2 August 2017

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2 August 2017

volume

7

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2 August 2017

issue

12

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2 August 2017

page(s)

e52264

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Creative Commons Attribution 4.0 International

2 August 2017

copyright license

start time

20 December 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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Copy-number variations, noncoding sequences, and human phenotypes

7 July 2018

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Copy number variation of microRNA genes in the human genome

7 July 2018

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Detection of clinically relevant exonic copy-number changes by array CGH.

7 July 2018

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

7 July 2018

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Origins and functional impact of copy number variation in the human genome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527541

Genomic views of distant-acting enhancers

7 July 2018

1 reference

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Identifying regulatory elements in eukaryotic genomes

7 July 2018

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7 July 2018

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Microarray-based comparative genomic hybridization using sex-matched reference DNA provides greater sensitivity for detection of sex chromosome imbalances than array-comparative genomic hybridization with sex-mismatched reference DNA

7 July 2018

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Population analysis of large copy number variants and hotspots of human genetic disease

7 July 2018

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Integrated detection and population-genetic analysis of SNPs and copy number variation

7 July 2018

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Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions.

7 July 2018

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Using galaxy to perform large-scale interactive data analyses

7 July 2018

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Deletion of ultraconserved elements yields viable mice

7 July 2018

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VISTA Enhancer Browser--a database of tissue-specific human enhancers

7 July 2018

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In vivo enhancer analysis of human conserved non-coding sequences

7 July 2018

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Highly conserved non-coding sequences are associated with vertebrate development

7 July 2018

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Long-range control of gene expression: emerging mechanisms and disruption in disease

7 July 2018

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Detection of large-scale variation in the human genome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527541

Ultraconserved Elements in the Human Genome

7 July 2018

1 reference

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A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly

7 July 2018

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7 July 2018

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Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia

7 July 2018

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Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region

7 July 2018

1 reference

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Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527541

Evaluation of the RET regulatory landscape reveals the biological relevance of a HSCR-implicated enhancer.

7 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0052264

Motor chip: a comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disorders.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0052264

β-Globin gene inactivation by DNA translocation in γβ-thalassaemi

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0052264

10.1371/JOURNAL.PONE.0052264

21 January 2018

Identifiers

DOI

1 reference

2 August 2017

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2 August 2017

1 reference