Estelle Lopez
Bordeaux, 33000, France
Last Updated: 09/26/2026
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Found 12 publications
A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum.
Journal: Human genetics
Published: October 15, 2020
Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS.
Journal: Molecular genetics & genomic medicine
Published: February 18, 2020
In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses.
Journal: Birth defects research
Published: July 21, 2017
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
Journal: Journal of medical genetics
Published: December 14, 2016
Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS.
Journal: Journal of medical genetics
Published: January 12, 2016
MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone.
Journal: PLoS biology
Published: July 16, 2015
The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.
Journal: Nature genetics
Published: December 23, 2013
Cohen syndrome is associated with major glycosylation defects.
Journal: Human molecular genetics
Published: December 17, 2013
C5orf42 is the major gene responsible for OFD syndrome type VI.
Journal: Human genetics
Published: July 23, 2013
Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome.
Journal: European journal of medical genetics
Published: November 28, 2012
The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.
Journal: Journal of medical genetics
Published: October 27, 2012
OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment.
Journal: Clinical genetics
Published: June 18, 2012
Showing 1-12 of 12
Last Updated: 09/26/2026