(Q33340273)

25 July 2017

Genetic and epigenetic factors at COL2A1 and ABCA4 influence clinical outcome in congenital toxoplasmosis (English)

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25 July 2017

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congenital toxoplasmosis

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inferred from title

author

Babill Stray-Pedersen

22

object named as

Babill Stray-Pedersen

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25 July 2017

14

Wilma Buffolano

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25 July 2017

26

Eskild Petersen

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25 July 2017

29

Jenefer M Blackwell

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25 July 2017

6

Heather J Cordell

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25 July 2017

Sarra E Jamieson

1

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25 July 2017

Lee-Anne de Roubaix

2

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25 July 2017

Mario Cortina-Borja

3

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25 July 2017

Hooi Kuan Tan

4

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25 July 2017

Ernest J Mui

5

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25 July 2017

Michael J Kirisits

7

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25 July 2017

E Nancy Miller

8

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25 July 2017

Christopher S Peacock

9

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25 July 2017

Aubrey C Hargrave

10

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25 July 2017

Jessica J Coyne

11

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25 July 2017

Kenneth Boyer

12

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25 July 2017

Marie-Hélène Bessieres

13

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25 July 2017

Nicole Ferret

15

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25 July 2017

Jacqueline Franck

16

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25 July 2017

François Kieffer

17

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25 July 2017

Paul Meier

18

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25 July 2017

Dorota E Nowakowska

19

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25 July 2017

Malgorzata Paul

20

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25 July 2017

François Peyron

21

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25 July 2017

Andrea-Romana Prusa

23

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25 July 2017

Philippe Thulliez

24

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25 July 2017

Martine Wallon

25

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25 July 2017

Rima McLeod

27

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25 July 2017

Ruth E Gilbert

28

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25 July 2017

language of work or name

English

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publication date

4 June 2008

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25 July 2017

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25 July 2017

3

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25 July 2017

6

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25 July 2017

e2285

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Creative Commons Attribution 4.0 International

25 July 2017

start time

4 June 2008

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Toxoplasmosis-associated neovascular lesions treated successfully with ranibizumab and antiparasitic therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390765

Widespread monoallelic expression on human autosomes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390765

Effectiveness of prenatal treatment for congenital toxoplasmosis: a meta-analysis of individual patients' data

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390765

Toxoplasma co-opts host gene expression by injection of a polymorphic kinase homologue

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390765

Peg1/Mest in obese adipose tissue is expressed from the paternal allele in an isoform-specific manner

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390765

Vitreoretinal morphology in active ocular toxoplasmosis: a prospective study by optical coherence tomography

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390765

Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390765

High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390765

Epigenetic status of human embryonic stem cells.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390765

MatInspector and beyond: promoter analysis based on transcription factor binding sites

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390765

Retinal-specific ATP-binding cassette transporter (ABCR/ABCA4) is expressed at the choroid plexus in rat brain.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390765

Collagens and collagen-related matrix components in the human and mouse eye.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390765

The gene for Stargardt disease, ABCA4, is a major retinal gene: a mini-review

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390765

Identification of novel imprinted genes in a genome-wide screen for maternal methylation.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390765

A unified stepwise regression procedure for evaluating the relative effects of polymorphisms within a gene using case/control or family data: application to HLA in type 1 diabetes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390765

Age-dependent changes in the expression of matrix components in the mouse eye

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390765

Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390765

Structural macromolecules and supramolecular organisation of the vitreous gel.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390765

Testing for linkage disequilibrium, maternal effects, and imprinting with (In)complete case-parent triads, by use of the computer program LEM.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390765

A note on power approximations for the transmission/disequilibrium test

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390765

A log-linear approach to case-parent-triad data: assessing effects of disease genes that act either directly or through maternal effects and that may be subject to parental imprinting

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390765

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390765

Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390765

Gametic disequilibrium measures: proceed with caution

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390765

Expression of the mouse alpha 1(II) collagen gene is not restricted to cartilage during development

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390765

Association between prenatal treatment and clinical manifestations of congenital toxoplasmosis in infancy: a cohort study in 13 European centres

21 June 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0002285

Outcome of treatment for congenital toxoplasmosis, 1981-2004: the National Collaborative Chicago-Based, Congenital Toxoplasmosis Study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0002285

HLA-class II genes modify outcome of Toxoplasma gondii infection.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0002285

The ABCA4 gene in autosomal recessive cone-rod dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0002285

Prognostic factors for the long-term development of ocular lesions in 327 children with congenital toxoplasmosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0002285

Early and longitudinal evaluations of treated infants and children and untreated historical patients with congenital toxoplasmosis: the Chicago Collaborative Treatment Trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0002285

The family based association test method: strategies for studying general genotype--phenotype associations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0002285

Ocular manifestations in congenital toxoplasmosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0002285

N-retinylidene-phosphatidylethanolamine is the preferred retinoid substrate for the photoreceptor-specific ABC transporter ABCA4 (ABCR).

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0002285

Distinct spatio-temporal expression of ABCA and ABCG transporters in the developing and adult mouse brain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0002285

DDC and COBL, flanking the imprinted GRB10 gene on 7p12, are biallelically expressed

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0002285

A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0002285

Verteporfin photodynamic therapy for choroidal neovascularization associated with toxoplasmic retinochoroiditis.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390765

Effect of timing and type of treatment on the risk of mother to child transmission of Toxoplasma gondii

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390765

AliBaba2: context specific identification of transcription factor binding sites.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390765

Localization of type II collagen mRNA isoforms in the developing eyes of normal and transgenic mice with a mutation in type II collagen gene.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390765

Expression of Sox9 and type IIA procollagen during ocular development and aging in transgenic Del1 mice with a mutation in the type II collagen gene

31 October 2018

1 reference

12 December 2020

Mother-to-child transmission of toxoplasmosis: risk estimates for clinical counselling

1 reference

12 December 2020

Detection of a novel parasite kinase activity at the Toxoplasma gondii parasitophorous vacuole membrane capable of phosphorylating host IkappaBalpha

1 reference

12 December 2020

Stickler syndrome: clinical characteristics and diagnostic criteria

1 reference

12 December 2020

1 reference

12 December 2020

Host and parasite-derived IKK activities direct distinct temporal phases of NF-kappaB activation and target gene expression following Toxoplasma gondii infection

1 reference

12 December 2020

Optic nerve changes in ocular toxoplasmosis

1 reference

12 December 2020

Predictors of retinochoroiditis in children with congenital toxoplasmosis: European, prospective cohort study

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0002285

Identifiers

DOI

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25 July 2017

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25 July 2017

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