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List of works by Valérie Dupé

A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis

scientific article published on 19 October 2018

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

scientific journal article

Array-CGH Analysis Suggests Genetic Heterogeneity in Rhombencephalosynapsis.

scientific article published on August 2013

Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing

scientific article published on 7 January 2016

Conditional ablation of integrin alpha-6 in mouse epidermis leads to skin fragility and inflammation

scientific article published on 20 October 2010

Contribution of cellular retinol-binding protein type 1 to retinol metabolism during mouse development

scientific journal article

Differential contributions of AF-1 and AF-2 activities to the developmental functions of RXR alpha

scientific article published in June 2001

Dynamic expression of Notch-dependent neurogenic markers in the chick embryonic nervous system.

scientific article published on 18 December 2014

Evolutionary Conservation of the Early Axon Scaffold in the Vertebrate Brain

scientific article

From cyclops to reality: a fresh look at the genetics of holoprosencephaly

scientific article published in November 2017

Genetic control of the development by retinoic acid

scientific article published in January 1997

Genetic evidence that the retinoid signal is transduced by heterodimeric RXR/RAR functional units during mouse development

scientific article published in January 1997

Holoprosencephaly: An update on cytogenetic abnormalities.

scientific article published on February 2010

Homozygous STIL mutation causes holoprosencephaly and microcephaly in two siblings

scientific article

Impaired locomotion and dopamine signaling in retinoid receptor mutant mice

scientific article published in February 1998

Impairing retinoic acid signalling in the neural crest cells is sufficient to alter entire eye morphogenesis.

scientific article published on 11 May 2008

In vivo functional analysis of the Hoxa-1 3' retinoic acid response element (3'RARE).

scientific article published in January 1997

Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly

article

Key roles of retinoic acid receptors alpha and beta in the patterning of the caudal hindbrain, pharyngeal arches and otocyst in the mouse

scientific article published in November 1999

Local retinoic acid signaling directs emergence of the extraocular muscle functional unit

scientific article published on 17 November 2020

Mesectoderm is a major target of retinoic acid action

scientific article published in January 1998

Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway

scientific article published in July 2016

NODAL and SHH dose-dependent double inhibition promotes an HPE-like phenotype in chick embryos.

scientific article published on 20 December 2012

NOTCH, a new signaling pathway implicated in holoprosencephaly.

scientific article

New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases ⬇️

scientific article published on September 22, 2011

Notch signaling and proneural genes work together to control the neural building blocks for the initial scaffold in the hypothalamus

scientific article

Novel genes upregulated when NOTCH signalling is disrupted during hypothalamic development.

scientific article

RXR gamma null mice are apparently normal and compound RXR alpha +/-/RXR beta -/-/RXR gamma -/- mutant mice are viable.

scientific article published on August 1996

Recent advances in understanding inheritance of holoprosencephaly

scientific article published on 22 May 2018

Regulation of downstream neuronal genes by proneural transcription factors during initial neurogenesis in the vertebrate brain.

scientific article published on 07 December 2016

Retinoic acid receptors exhibit cell-autonomous functions in cranial neural crest cells

scientific article published in October 2009

Retinoic acid-dependent eye morphogenesis is orchestrated by neural crest cells

scientific journal article

Role of the retinoic acid receptor beta (RARbeta) during mouse development

scientific article published in June 1997

Roles of retinoic acid receptors and of Hox genes in the patterning of the teeth and of the jaw skeleton.

scientific article published on February 1995

Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders

scientific article published on 05 March 2019

Temporally controlled targeted somatic mutagenesis in embryonic surface ectoderm and fetal epidermal keratinocytes unveils two distinct developmental functions of BRG1 in limb morphogenesis and skin barrier formation

scientific journal article

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