(Q35166672)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21850183%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

title

Nonsyndromic bilateral and unilateral optic nerve aplasia: first familial occurrence and potential implication of CYP26A1 and CYP26C1 genes (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21850183%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21850183%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Björn Menten

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21850183%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Elfride De Baere

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21850183%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

5

Christian Van Nechel

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21850183%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

author name string

Françoise Meire

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21850183%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Isabelle Delpierre

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21850183%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Françoise Roulez

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21850183%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Fanny Depasse

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21850183%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Catherine Christophe

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21850183%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

publication date

5 August 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21850183%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21850183%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

volume

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21850183%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

page(s)

2072-2079

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21850183%20AND%20SRC:MED&resulttype=core&format=json

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

11 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156792

Abnormal vessel morphology in boys born after intracytoplasmic sperm injection

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156792

Developmental abnormalities of the optic nerve and chiasm

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156792

The diploid genome sequence of an individual human

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156792

CYP26A1 and CYP26C1 cooperatively regulate anterior-posterior patterning of the developing brain and the production of migratory cranial neural crest cells in the mouse

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156792

Bilateral aplasia of the optic nerve, chiasm, and tracts in an otherwise healthy infant

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156792

arrayCGHbase: an analysis platform for comparative genomic hybridization microarrays

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156792

Shifting boundaries of retinoic acid activity control hindbrain segmental gene expression

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156792

Heterozygous mutations of OTX2 cause severe ocular malformations

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156792

Mutations of the PAX6 Gene Detected in Patients with a Variety of Optic-Nerve Malformations

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156792

Mutations in SOX2 cause anophthalmia

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156792

Clinical importance of the cytochromes P450

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156792

The retinoic acid-metabolizing enzyme, CYP26A1, is essential for normal hindbrain patterning, vertebral identity, and development of posterior structures

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156792

The retinoic acid-inactivating enzyme CYP26 is essential for establishing an uneven distribution of retinoic acid along the anterio-posterior axis within the mouse embryo

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156792

13 July 2018

Optic nerve hypoplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156792

Bilateral aplasia of the optic nerves, chiasm, and tracts in an otherwise healthy infant

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156792

Hypothalamic-hypophyseal dysgenesis as a neuroimaging correlate of pituitary hormone deficiency in anophthalmia

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156792

Aplasia of the optic nerve in two cases of partial trisomy 10q24-ter.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156792

Aplasia of the optic nerve

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156792

Growth charts for both cross-sectional and longitudinal data

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156792

Standards for children's height at ages 2-9 years allowing for heights of parents

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156792

Growth hormone state after completion of treatment with growth hormone.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156792

An update of the Swedish reference standards for weight, length and head circumference at birth for given gestational age (1977-1981).

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156792

Aplasia of the Optic Nerve and Disk

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156792

Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156792

Effects of visual deprivation on intra-limb coordination during walking in children and adults

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156792

Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156792

Unilateral optic nerve aplasia associated with rudimental retinal vasculature.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156792

Optic nerve axons: life and death before birth

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156792

Optic nerve aplasia in an infant with congenital hypopituitarism and posterior pituitary ectopia

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156792

Cyp26C1 encodes a novel retinoic acid-metabolizing enzyme expressed in the hindbrain, inner ear, first branchial arch and tooth buds during murine development

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156792

Choroidal neovascularization associated with aplasia of the optic nerve

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156792

Cloning of a novel retinoic-acid metabolizing cytochrome P450, Cyp26B1, and comparative expression analysis with Cyp26A1 during early murine development

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156792

Posterior segment neovascularization associated with optic nerve aplasia

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156792

Ocular manifestations in children born after in vitro fertilization

27 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21850183

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

1 reference

https://pubmed.ncbi.nlm.nih.gov/21850183

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The prevalence of severe growth hormone deficiency in adults who received growth hormone replacement in childhood [see comment]

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21850183

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21850183%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

PubMed publication ID

21850183

1 reference