(Q33471397)

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Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening

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scholarly article

1 reference

Europe PubMed Central

27 July 2017

Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening (English)

1 reference

Europe PubMed Central

27 July 2017

Stilianos Antonarakis

20

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Europe PubMed Central

27 July 2017

14

object named as

Catherine Ucla

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18

object named as

Anne De Paepe

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10

object named as

Björn Menten

1 reference

Europe PubMed Central

27 July 2017

Catia Attanasio

object named as

Catia Attanasio

2

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object named as

Filip Pattyn

12

0 references

Elfride De Baere

object named as

Elfride De Baere

21

0 references

17

object named as

Frank Speleman

1 reference

Europe PubMed Central

27 July 2017

19

object named as

Job Dekker

1 reference

Europe PubMed Central

27 July 2017

16

object named as

Carine Wyss

1 reference

Europe PubMed Central

27 July 2017

Colette Rossier

15

object named as

Colette Rossier

1 reference

Europe PubMed Central

27 July 2017

13

object named as

Marc Friedli

1 reference

Europe PubMed Central

27 July 2017

author name string

Barbara D'haene

1

1 reference

Europe PubMed Central

27 July 2017

Diane Beysen

3

1 reference

Europe PubMed Central

27 July 2017

Josée Dostie

4

1 reference

Europe PubMed Central

27 July 2017

Edmond Lemire

5

1 reference

Europe PubMed Central

27 July 2017

Philippe Bouchard

6

1 reference

Europe PubMed Central

27 July 2017

Michael Field

7

1 reference

Europe PubMed Central

27 July 2017

Kristie Jones

8

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27 July 2017

Birgit Lorenz

9

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Europe PubMed Central

27 July 2017

Karen Buysse

11

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27 July 2017

publication date

19 June 2009

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Europe PubMed Central

27 July 2017

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Europe PubMed Central

27 July 2017

5

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Europe PubMed Central

27 July 2017

e1000522

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27 July 2017

6

1 reference

Europe PubMed Central

27 July 2017

copyright license

Creative Commons Attribution 4.0 International

19 June 2009

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

1 reference

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14 July 2018

Using RepeatMasker to identify repetitive elements in genomic sequences

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14 July 2018

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

1 reference

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14 July 2018

Assaying the regulatory potential of mammalian conserved non-coding sequences in human cells

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14 July 2018

Mechanisms for human genomic rearrangements

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14 July 2018

Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein

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14 July 2018

Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip

1 reference

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14 July 2018

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14 July 2018

FOXL2 mutations and genomic rearrangements in BPES.

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14 July 2018

A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb

1 reference

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14 July 2018

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14 July 2018

Ultraconservation identifies a small subset of extremely constrained developmental enhancers

1 reference

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14 July 2018

Point mutations in a distant sonic hedgehog cis-regulator generate a variable regulatory output responsible for preaxial polydactyly

1 reference

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14 July 2018

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14 July 2018

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14 July 2018

miRBase: tools for microRNA genomics

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14 July 2018

Clustal W and Clustal X version 2.0

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14 July 2018

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14 July 2018

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14 July 2018

Hairpin- and cruciform-mediated chromosome breakage: causes and consequences in eukaryotic cells

1 reference

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14 July 2018

qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data

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14 July 2018

RNAdb 2.0--an expanded database of mammalian non-coding RNAs

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14 July 2018

In vivo enhancer analysis of human conserved non-coding sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689649

14 July 2018

A systematic analysis of disease-associated variants in the 3' regulatory regions of human protein-coding genes I: general principles and overview

1 reference

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14 July 2018

Sequence variants in SLITRK1 are associated with Tourette's syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689649

14 July 2018

A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689649

14 July 2018

Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes

1 reference

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14 July 2018

Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689649

14 July 2018

arrayCGHbase: an analysis platform for comparative genomic hybridization microarrays

1 reference

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14 July 2018

In vivo characterization of a vertebrate ultraconserved enhancer

1 reference

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14 July 2018

Ovarian-specific expression of a new gene regulated by the goat PIS region and transcribed by a FOXL2 bidirectional promoter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689649

14 July 2018

Conserved non-genic sequences - an unexpected feature of mammalian genomes

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14 July 2018

Highly conserved non-coding sequences are associated with vertebrate development

1 reference

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14 July 2018

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

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689649

14 July 2018

A novel insertion mutation in the FOXL2 gene is detected in a big Chinese family with blepharophimosis-ptosis-epicanthus inversus

1 reference

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14 July 2018

Naturally occurring H-DNA-forming sequences are mutagenic in mammalian cells

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14 July 2018

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14 July 2018

FOXL2 inactivation by a translocation 171 kb away: analysis of 500 kb of chromosome 3 for candidate long-range regulatory sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689649

14 July 2018

Aligning multiple genomic sequences with the threaded blockset aligner

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689649

14 July 2018

Scanning Human Gene Deserts for Long-Range Enhancers

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14 July 2018

Evolutionary discrimination of mammalian conserved non-genic sequences (CNGs).

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14 July 2018

Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs

1 reference

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14 July 2018

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

1 reference

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14 July 2018

mreps: Efficient and flexible detection of tandem repeats in DNA

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14 July 2018

MATCH: A tool for searching transcription factor binding sites in DNA sequences

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GALA, a database for genomic sequence alignments and annotations

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14 July 2018

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14 July 2018

TRANSFAC: transcriptional regulation, from patterns to profiles

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14 July 2018

Capturing chromosome conformation

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14 July 2018

A 11.7-kb deletion triggers intersexuality and polledness in goats

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14 July 2018

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689649

14 July 2018

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14 July 2018

Identification of BPESC1, a novel gene disrupted by a balanced chromosomal translocation, t(3;4)(q23;p15.2), in a patient with BPES.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689649

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1 reference

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14 July 2018

CENSOR--a program for identification and elimination of repetitive elements from DNA sequences.

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14 July 2018

Basic local alignment search tool

1 reference

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14 July 2018

Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000522

21 January 2018

A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000522

21 January 2018

Identification of an unbalanced X-autosome translocation by array CGH in a boy with a syndromic form of chondrodysplasia punctata brachytelephalangic type.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000522

21 January 2018

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1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000522

21 January 2018

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1 reference

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21 January 2018

Molecular Cytogenetic Evaluation in a Patient with a Translocation (3;21) Associated with Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome (BPES)

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https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000522

21 January 2018

Numerous potentially functional but non-genic conserved sequences on human chromosome 21

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21 January 2018

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31 October 2018

Mapping chromatin interactions by chromosome conformation capture

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https://pubmed.ncbi.nlm.nih.gov/19543368

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The sequence manipulation suite: JavaScript programs for analyzing and formatting protein and DNA sequences

1 reference

https://pubmed.ncbi.nlm.nih.gov/19543368

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA-->AAUGAA) leads to the IPEX syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/19543368

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Conserved patterns of gene expression in mice and goats in the vicinity of the Polled Intersex Syndrome (PIS) locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/19543368

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1371/JOURNAL.PGEN.1000522

1 reference

Europe PubMed Central

27 July 2017

1 reference

Europe PubMed Central

27 July 2017

1 reference

Europe PubMed Central

27 July 2017

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