(Q59799580)

1

0 references

Stéphane Claverol

3

0 references

Marc Bonneu

4

0 references

Didier Lacombe

5

0 references

Caroline Rooryck

Creative Commons Attribution 4.0 International

6

0 references

language of work or name

English

0 references

publication date

30 November 2018

0 references

published in

Scientific Reports

0 references

volume

8

0 references

issue

1

0 references

page(s)

17492

0 references

copyright license

start time

30 November 2018

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

From Bench to Bedside and Back: Improving Diagnosis and Treatment of Craniofacial Malformations Utilizing Animal Models

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function.

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS.

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

2.3 Mb terminal deletion in 12p13.33 associated with oculoauriculovertebral spectrum and evaluation of WNT5B as a candidate gene.

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

A novel de novo mutation in MYT1, the unique OAVS gene identified so far.

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

Infants of diabetic mothers are at increased risk for the oculo-auriculo-vertebral sequence: A case-based and case-control approach

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

A quantitative study of the lethal and teratogenic effects of hypoxia on the three-day chick embryo

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

Hypoxia and the Edema Syndrome: elucidation of a mechanism of teratogenesis

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

Tamoxifen and pregnancy

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

Goldenhar syndrome associated with prenatal maternal Fluoxetine ingestion: Cause or coincidence?

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

Retinoic acid embryopathy

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

Craniofacial features of isotretinoin embryopathy

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

Morphogenesis of malformations in hamsters caused by retinoic acid: relation to dose and stage at treatment. Teratology 5:103-18. 1972.

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

Metabolic characterization of all-trans-retinoic acid (ATRA)-induced craniofacial development of murine embryos using in vivo proton magnetic resonance spectroscopy

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

A paradoxical teratogenic mechanism for retinoic acid.

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

Cranio-facial dysmorphism: experimental study in the mouse, clinical applications

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

Cyp26 genes a1, b1 and c1 are down-regulated in Tbx1 null mice and inhibition of Cyp26 enzyme function produces a phenocopy of DiGeorge Syndrome in the chick.

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

Atypical microdeletion in 22q11 deletion syndrome reveals new candidate causative genes: A case report and literature review.

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

A nutritional model of late embryonic vitamin A deficiency produces defects in organogenesis at a high penetrance and reveals new roles for the vitamin in skeletal development

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

Genetic evidence that oxidative derivatives of retinoic acid are not involved in retinoid signaling during mouse development

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

Mechanisms of retinoic acid signalling and its roles in organ and limb development

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

Vitamin A and retinoid signaling: genomic and nongenomic effects

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

Dhrs3a regulates retinoic acid biosynthesis through a feedback inhibition mechanism

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

Antagonism between retinoic acid and fibroblast growth factor signaling during limb development

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

Retinoic Acid and Pitx2 Regulate Early Neural Crest Survival and Migration in Craniofacial and Ocular Development

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

Retinoic acid affects craniofacial patterning by changing Fgf8 expression in the pharyngeal ectoderm

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

TBX1, a DiGeorge syndrome candidate gene, is inhibited by retinoic acid

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

The effect of hypoxia on facial shape variation and disease phenotypes in chicken embryos.

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification.

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

Genetic disruption of CYP26B1 severely affects development of neural crest derived head structures, but does not compromise hindbrain patterning

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

Impaired development of left anterior heart field by ectopic retinoic acid causes transposition of the great arteries.

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

PARP-1 determines specificity in a retinoid signaling pathway via direct modulation of mediator

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

Convergence of 9-cis retinoic acid and peroxisome proliferator signalling pathways through heterodimer formation of their receptors

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

Increased MAPK activation and impaired insulin signaling in subcutaneous microvascular endothelial cells in type 2 diabetes: the role of endothelin-1.

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

The retinol-binding protein receptor STRA6 regulates diurnal insulin responses.

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

Hypoxia-inducible factor-1 alpha (HIF-1 alpha) escapes O(2)-driven proteasomal degradation irrespective of its subcellular localization: nucleus or cytoplasm

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

Hif1α down-regulation is associated with transposition of great arteries in mice treated with a retinoic acid antagonist

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

Inactivation of Cdc42 in neural crest cells causes craniofacial and cardiovascular morphogenesis defects

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

Thrombophilic gene mutations and recurrent spontaneous abortion: prothrombin mutation increases the risk in the first trimester

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

Hypoxia-mediated carbohydrate metabolism and transport promote early-stage murine follicle growth and survival

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

The ubiquitin ligase Nedd4 regulates craniofacial development by promoting cranial neural crest cell survival and stem-cell like properties

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

A key role for poly(ADP-ribose) polymerase 3 in ectodermal specification and neural crest development

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

Vascular and morphogenetic abnormalities associated with exposure of cigarette smoke condensate during chicken and murine embryogenesis

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

Toxicological effects of the different substances in tobacco smoke on human embryonic development by a systems chemo-biology approach

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

Cigarette smoke condensate affects the retinoid pathway in human amnion.

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

Zebrafish retinal defects induced by ethanol exposure are rescued by retinoic acid and folic acid supplement

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

Competition between ethanol clearance and retinoic acid biosynthesis in the induction of Fetal Alcohol Syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-35681-0

7 January 2021

[A case of Goldenhar syndrome: acute vitamin A intoxication in the mother during pregnancy]

1 reference

12 December 2020

Hemorrhage in development of the face

1 reference

12 December 2020

Retinoic acid embryopathy: case report and review of literature

1 reference

12 December 2020

Oculoauriculovertebral abnormalities in children of diabetic mothers

1 reference

12 December 2020

Congenital anomalies in the rat produced by excessive intake of vitamin A during pregnancy

1 reference

12 December 2020

Effects of retinoic acid on the differentiation of chondrogenic progenitor cells, ATDC5.

1 reference

12 December 2020

Hypoxia-Inducible Factor (HIF)-1 regulatory pathway and its potential for therapeutic intervention in malignancy and ischemia

1 reference

12 December 2020

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

1 reference

12 December 2020

Qualitative research of alternatively splice variants of fibronectin in different development stage of mice heart

1 reference

12 December 2020