(Q33752098)

29 July 2017

title

Enrichment of ultraconserved elements among genomic imbalances causing mental delay and congenital anomalies (English)

1 reference

29 July 2017

Silvestre Oltra

4

1 reference

ORCID Public Data File 2021

author name string

Francisco Martínez

1

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29 July 2017

Sandra Monfort

2

1 reference

29 July 2017

Mónica Roselló

3

1 reference

29 July 2017

David Blesa

5

1 reference

29 July 2017

Ramiro Quiroga

6

1 reference

29 July 2017

Sonia Mayo

7

1 reference

29 July 2017

Carmen Orellana

8

1 reference

29 July 2017

publication date

23 November 2010

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29 July 2017

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29 July 2017

volume

3

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29 July 2017

page(s)

54

1 reference

The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes

29 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002293

Deletion of ultraconserved elements yields viable mice

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002293

Human genome ultraconserved elements are ultraselected

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002293

Ultraconserved elements are associated with homeostatic control of splicing regulators by alternative splicing and nonsense-mediated decay

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002293

In vivo enhancer analysis of human conserved non-coding sequences

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002293

Mammalian ultraconserved elements are strongly depleted among segmental duplications and copy number variants

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002293

NCBI Reference Sequence (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002293

Ultraconserved Elements in the Human Genome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002293

The UCSC Genome Browser Database

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002293

Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents

21 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1755-8794-3-54

Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1755-8794-3-54

Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1755-8794-3-54

21 January 2018

Identifiers

DOI

10.1186/1755-8794-3-54

1 reference

Dimensions Publication ID

29 July 2017

0 references

1 reference

29 July 2017

1 reference