(Q50342077)

5 March 2018

title

Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia. (English)

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5 March 2018

author

Volkan Okur

9

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5 March 2018

author name string

C Nur Semerci

1

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5 March 2018

Ersan Kalay

2

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5 March 2018

Cem Yıldırım

3

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5 March 2018

Tuba Dinçer

4

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5 March 2018

Akgün Olmez

5

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5 March 2018

Bayram Toraman

6

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5 March 2018

Ali Koçyiğit

7

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5 March 2018

Yunus Bulgu

8

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5 March 2018

Lale Satıroğlu-Tufan

10

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5 March 2018

Nurten A Akarsu

11

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5 March 2018

language of work or name

English

0 references

publication date

25 February 2014

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5 March 2018

British Journal of Ophthalmology

published in

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5 March 2018

volume

98

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5 March 2018

issue

6

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5 March 2018

page(s)

832-840

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5 March 2018

Anophthalmia and microphthalmia

cites work

1 reference

https://api.crossref.org/works/10.1136%2FBJOPHTHALMOL-2013-304058

A practical guide to the management of anophthalmia and microphthalmia

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FBJOPHTHALMOL-2013-304058

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FBJOPHTHALMOL-2013-304058

ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FBJOPHTHALMOL-2013-304058

Mutations in ALDH1A3 cause microphthalmia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FBJOPHTHALMOL-2013-304058

A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FBJOPHTHALMOL-2013-304058

ALX4 dysfunction disrupts craniofacial and epidermal development

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FBJOPHTHALMOL-2013-304058

Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FBJOPHTHALMOL-2013-304058

Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FBJOPHTHALMOL-2013-304058

Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FBJOPHTHALMOL-2013-304058

Aldehyde dehydrogenase 6, a cytosolic retinaldehyde dehydrogenase prominently expressed in sensory neuroepithelia during development

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FBJOPHTHALMOL-2013-304058

A newborn lethal defect due to inactivation of retinaldehyde dehydrogenase type 3 is prevented by maternal retinoic acid treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FBJOPHTHALMOL-2013-304058

Normal and abnormal mechanisms of gene splicing and relevance to inherited skin diseases

21 January 2018

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https://api.crossref.org/works/10.1136%2FBJOPHTHALMOL-2013-304058

Improved splice site detection in Genie

21 January 2018

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Retinoic acid signaling in mammalian eye development

21 January 2018

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First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FBJOPHTHALMOL-2013-304058

Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FBJOPHTHALMOL-2013-304058

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation

21 January 2018

1 reference

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CDD: a Conserved Domain Database for the functional annotation of proteins

21 January 2018

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Structure of mitochondrial aldehyde dehydrogenase: the genetic component of ethanol aversion

21 January 2018

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Sheep liver cytosolic aldehyde dehydrogenase: the structure reveals the basis for the retinal specificity of class 1 aldehyde dehydrogenases

21 January 2018

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The pathogenesis of autism: insights from congenital blindness

21 January 2018

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Reversible autism among congenitally blind children? A controlled follow-up study.

21 January 2018

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Autism in visually impaired individuals.

21 January 2018

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https://api.crossref.org/works/10.1136%2FBJOPHTHALMOL-2013-304058

Controversies in autism: is a broader model of social disorders needed?

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FBJOPHTHALMOL-2013-304058

Prenatal diagnosis of bilateral anophthalmia by 3D "reverse face" view ultrasound and magnetic resonance imaging.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FBJOPHTHALMOL-2013-304058

10.1136/BJOPHTHALMOL-2013-304058

21 January 2018

Identifiers

DOI

1 reference

5 March 2018

1 reference

5 March 2018