Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease (Q58087962)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30377383%20AND%20SRC:MED&resulttype=core&format=json

1 May 2020

title

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease (English)

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1 May 2020

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1 May 2020

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1 May 2020

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1 May 2020

Stijn Van de Sompele

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Annalaura Torella

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Marianthi Karali

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1 May 2020

Kristof Van Schil

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1 May 2020

Frank Peelman

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1 May 2020

Timothy Cherry

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1 May 2020

Toon Rosseel

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1 May 2020

Hannah Verdin

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1 May 2020

Julien Derolez

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1 May 2020

Thalia Van Laethem

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1 May 2020

Kamron N Khan

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1 May 2020

Martin McKibbin

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1 May 2020

Carmel Toomes

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1 May 2020

Manir Ali

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1 May 2020

Francesco Testa

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1 May 2020

Belen Jimenez

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1 May 2020

Francesca Simonelli

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1 May 2020

Julie De Zaeytijd

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1 May 2020

Jenneke Van den Ende

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1 May 2020

Bart P Leroy

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1 May 2020

Carmen Ayuso

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1 May 2020

Chris F Inglehearn

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1 May 2020

Sandro Banfi

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1 May 2020

Elfride De Baere

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1 May 2020

language of work or name

English

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publication date

31 October 2018

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1 May 2020

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1 May 2020

volume

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1 May 2020

issue

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1 May 2020

page(s)

1319-1329

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Fate map of the chick embryo neural tube

1 May 2020

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Retinal homeobox 1 is required for retinal neurogenesis and photoreceptor differentiation in embryonic zebrafish

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Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea

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Autosomal Dominant Retinal Dystrophy With Electronegative Waveform Associated With a Novel RAX2 Mutation

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Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families

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Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies

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Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.

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A Fourth KLK4 Mutation Is Associated with Enamel Hypomineralisation and Structural Abnormalities

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7 January 2021

Multiple phosphorylated isoforms of NRL are expressed in rod photoreceptors

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An atlas of gene expression and gene co-regulation in the human retina.

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Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa

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Interspecific variation in Rx1 expression controls opsin expression and causes visual system diversity in African cichlid fishes

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PubMed

https://pubmed.ncbi.nlm.nih.gov/30377383

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1038/S41436-018-0345-5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30377383%20AND%20SRC:MED&resulttype=core&format=json

1 May 2020

1 reference

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1 May 2020

PubMed publication ID

30377383

1 reference

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