Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies. - sprookjes - yvandenbroek - TriplyDB

Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies.

Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies.

http://www.wikidata.org/entity/Q34999556

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Functional analysis of FOXE3 mutations causing dominant and recessive ocular anterior segment disease Growth inhibition of human lens epithelial cells by short hairpin RNA in transcription factor forkhead box E3 (FOXE3)A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia FOXE3 plays a significant role in autosomal recessive microphthalmia A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly A novel histopathologic finding in the Descemet's membrane of a patient with Peters Anomaly: a case-report and literature review Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization Foxf2: a novel locus for anterior segment dysgenesis adjacent to the Foxc1 gene Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.Identification of a novel C-terminal extension mutation in EPHA2 in a family affected with congenital cataract Prostaglandins in the eye: Function, expression, and roles in glaucoma.Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators Chromosome abnormalities and the genetics of congenital corneal opacification.Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma VSX2 mutations in autosomal recessive microphthalmia Parent-of-origin effects in SOX2 anophthalmia syndrome Absence of NR2E1 mutations in patients with aniridia.Genetics of anterior segment dysgenesis disorders.An epidemiological investigation of a Forkhead box protein E3 founder mutation underlying the high frequency of sclerocornea, aphakia, and microphthalmia in a Mexican village.Peters Anomaly in Twins: A Case Report of a Rare Incident with Novel Comorbidities Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders.Aetiology and management of hereditary aortopathy.Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.Autosomal recessive transmission of TRAPS in a family with a novel TNFRSF1A mutation.Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects.Exome sequencing reveals novel homozygous FOXE3 mutation in microphthalmos with staphylomatous malformation.

P2860

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P2860

Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies.

http://www.wikidata.org/entity/Q34999556

description

2009 nî lūn-bûn

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2009 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

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2009 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2009年の論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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Seeing clearly: the dominant a ...... n eye developmental anomalies.

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Seeing clearly: the dominant a ...... n eye developmental anomalies.

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Seeing clearly: the dominant a ...... n eye developmental anomalies.

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Seeing clearly: the dominant a ...... n eye developmental anomalies.

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Alexander William Wyatt

http://www.w3.org/2001/XMLSchema#string

Angela Martin

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Christian Kluck

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Ghazala Mirza

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Helen Herbert

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J Richard O Collin

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Jiannis Ragoussis

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Martin Farrall

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Nicola K Ragge

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Robert J Osborne

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P2860

A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian family

SOX2 anophthalmia syndrome.

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1378-1386

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scholarly article

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10.1002/HUMU.21079

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10

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30

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Peter Nürnberg

Gudrun Nürnberg

Sibel Aylin Ugur

Muhammad Sajid Hussain

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2009-10-01T00:00:00Z

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19708017

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