(Q30486258)

21 August 2017

A missense mutation in ALDH1A3 causes isolated microphthalmia/anophthalmia in nine individuals from an inbred Muslim kindred (English)

1 reference

21 August 2017

Adi Mory

1

1 reference

21 August 2017

Francesc X Ruiz

2

1 reference

21 August 2017

Efrat Dagan

3

1 reference

21 August 2017

Evgenia A Yakovtseva

4

1 reference

21 August 2017

Alina Kurolap

5

1 reference

21 August 2017

Xavier Parés

6

1 reference

21 August 2017

Jaume Farrés

7

1 reference

21 August 2017

Ruth Gershoni-Baruch

8

1 reference

21 August 2017

24 July 2013

1 reference

European Journal of Human Genetics

21 August 2017

1 reference

21 August 2017

22

1 reference

21 August 2017

3

1 reference

21 August 2017

419-422

1 reference

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

21 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925280

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925280

A paradoxical teratogenic mechanism for retinoic acid.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925280

Retinaldehyde is a substrate for human aldo-keto reductases of the 1C subfamily

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925280

The genetics of anophthalmia and microphthalmia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925280

Disease-associated variants of microsomal retinol dehydrogenase 12 (RDH12) are degraded at mutant-specific rates

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925280

Systemic and ophthalmological anomalies in congenital anophthalmic or microphthalmic patients

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925280

Design of anti- and pro-aggregation variants to assess the effects of methionine oxidation in human prion protein

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925280

Keeping an eye on retinoic acid signaling during eye development

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925280

Anophthalmia and microphthalmia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925280

Retinoic acid guides eye morphogenetic movements via paracrine signaling but is unnecessary for retinal dorsoventral patterning

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925280

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925280

The BDNF val66met polymorphism affects activity-dependent secretion of BDNF and human memory and hippocampal function

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925280

Environmental risk factors in congenital malformations of the eye.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925280

OPHTHALMIC INVOLVEMENT IN THE FETAL ALCOHOL SYNDROME: CLINICAL AND ANIMAL MODEL STUDIES

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925280

Effect of COMT Val108/158 Met genotype on frontal lobe function and risk for schizophrenia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925280

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925280

Ethanol exposure affects gene expression in the embryonic organizer and reduces retinoic acid levels

20 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2013.157

Analysis of lipophilic antioxidants in human serum and tissues: tocopherols and carotenoids

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2013.157

Ethanol induces embryonic malformations by competing for retinaldehyde dehydrogenase activity during vertebrate gastrulation

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2013.157

Improved normal-phase and reversed-phase gradient high-performance liquid chromatography procedures for the analysis of retinoids and carotenoids in human serum, plant and animal tissues

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925280

Hereditary microphthalmia with colobomatous cyst

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23881059

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2013.157

1 reference

Dimensions Publication ID

21 August 2017

0 references

1 reference

21 August 2017

PubMed publication ID

23881059

1 reference