Ribosomopathies (research program)
My research program focuses on ribosome biogenesis and nucleolar function. The nucleolus is a specialized compartment of the cell nucleus:…
Hirschsprung disease
Hirschsprung disease is characterized by the absence of enteric neural ganglia in the colon, resulting in intestinal blockage and death…
CHARGE Syndrome
Mutations in the gene coding chromodomain-helicase-DNA-binding protein 7 (CHD7), an ATP-dependent chromatin remodeller, are the primary cause of CHARGE syndrome…
Al-Raqad Syndrome and Early Onset Schizophrenia
Spine-shaped structures along the C. elegans motor neuron DDD dendrite. Dendritic spines are indicated by white arrows.
CHARGE Syndrome
Percentage of transfected Co7 and N2A cells relative to the subcellular localization of the different isoforms of Fam172a
CHARGE Syndrome
CHARGE Syndrome is a rare developmental disorder which affects 1/ 10 000 newborns and has a very complex clinical presentation.…
Syndrome de Waardenburg
Immunostaining of melanocytes from a mouse hair follicle. The nuclei of the cells are stained blue. All melanocytes express c-Kit…
CHARGE Syndrome
CHARGE Syndrome is a rare developmental disorder which affects 1/ 10 000 newborns and has a very complex clinical presentation.…
Simple epidermolysis bullosa
Epidermolysis bullosa simplex (EBS) is a rare genetic disease, involving mutation in the keratin genes. Therefore, there is a failure…
Congenital Mirror Movements
Congenital Mirror Movements (CMM) is a rare neurodevelopmental disorder, characterized by voluntary movements from one side of the body that…
MEDNIK Syndrome (research program)
MEDNIK syndrome is a rare genetic disease with autosomal recessive transmission, several cases of which have been identified in four…
Ribosomopathies
Crystallographic modeling of a ribosome The ribosome is the association of two subunits, one large (above) and one small (below).…