(Q35767690)

10 August 2017

title

Whole-Exome Sequencing in a South American Cohort Links ALDH1A3, FOXN1 and Retinoic Acid Regulation Pathways to Autism Spectrum Disorders (English)

1 reference

10 August 2017

main subject

autism spectrum disorder

0 references

1 reference

Oscar A Moreno-Ramos

1

1 reference

10 August 2017

Ana María Olivares

2

1 reference

10 August 2017

Neena B Haider

3

1 reference

10 August 2017

Liga Colombiana de Autismo

4

1 reference

10 August 2017

María Claudia Lattig

5

1 reference

10 August 2017

language of work or name

English

0 references

publication date

9 September 2015

1 reference

10 August 2017

1 reference

10 August 2017

volume

10

1 reference

10 August 2017

issue

9

1 reference

10 August 2017

page(s)

e0135927

1 reference

Creative Commons Attribution 4.0 International

10 August 2017

copyright license

start time

9 September 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564166

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27 July 2018

1 reference

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25 September 2018

1 reference

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25 September 2018

1 reference

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564166

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564166

Mutations in ALDH1A3 cause microphthalmia.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564166

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564166

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25 September 2018

1 reference

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25 September 2018

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Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

25 September 2018

1 reference

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25 September 2018

1 reference

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25 September 2018

1 reference

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25 September 2018

1 reference

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25 September 2018

1 reference

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Foxn1 is required to maintain the postnatal thymic microenvironment in a dosage-sensitive manner

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564166

Coordinated actions of the forkhead protein Foxp1 and Hox proteins in the columnar organization of spinal motor neurons

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564166

Advances in autism genetics: on the threshold of a new neurobiology

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564166

A robust characterization of retinoic acid response elements based on a comparison of sites in three species

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564166

RARbeta isoform-specific regulation of DARPP-32 gene expression: an ectopic expression study in the developing rat telencephalon.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564166

Retinoid signaling competence and RARbeta-mediated gene regulation in the developing mammalian telencephalon.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564166

Autistic traits in the general population: a twin study

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564166

Gene expression regulation by retinoic acid

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564166

Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564166

Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564166

FOXN1 homozygous mutation associated with anencephaly and severe neural tube defect in human athymic Nude/SCID fetus

25 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26352270

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0135927

1 reference

10 August 2017

0 references

1 reference

10 August 2017

1 reference