A novel homozygous R764H mutation in crumbs homolog 1 causes autosomal recessive retinitis pigmentosa

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The focus of the work presented in this thesis is the exploration of the genetic architecture of complex human traits - at the dawn of genomic medicine. The underlying mechanisms explaining the enormously polygenic nature of most human complex traits are ...

Our genome is a long sequence of DNA that contains all the information to be able to constitute a living organism like us, similarly to what the letters in a book do to create a story. This sequence, which is a stretch of molecules called nucleotides, is a ...

Advances in single-cell genomics now enable large-scale comparisons of cell states across two or more experimental conditions. Numerous statistical tools are available to identify individual genes, proteins or chromatin regions that differ between conditio ...

Retinal prostheses hold the promise of restoring vision in totally blind people. However, a decade of clinical trials highlighted quantitative limitations hampering the possibility of reaching this goal. A key challenge in retinal stimulation is to indepen ...

We designed and tested a device to stimulate specifically one photoreceptor type, or a combination of some of them, of the human eye by using up to six primaries. The device produces a homogeneous light field over 40 degrees which is projected onto the ret ...

Telomeres protect chromosome ends from nucleolytic degradation, uncontrolled recombination by DNA repair enzymes and checkpoint signaling, and they provide mechanisms for their maintenance by semiconservative DNA replication, telomerase and homologous reco ...

Inherited retinal diseases (IRDs) form a group of diverse disorders that lead to the degeneration of the light-sensing cells of the retina: the photoreceptors. IRDs are among the leading causes of blindness in working-age adults living in industrialized co ...

An ophthalmic illumination and imaging system with transscleral / transpalpebral illumination of the eye fundus comprises a light-delivering device with a plurality of emitting areas; each of the emitting areas being configured to be independently controll ...

Objective. Retinal prostheses hold the potential to restore artificial vision in blind patients suffering from outer retinal dystrophies. The optimal number, density and coverage of the electrodes that a retinal prosthesis should have to provide adequate a ...

We report the molecular basis of the largest Tunisian cohort with inherited retinal dystrophies (IRD) reported to date, identify disease-causing pathogenic variants and describe genotype-phenotype correlations. A subset of 26 families from a cohort of 73 f ...

The technological evolution in materials science and microengineering favored the production of advanced visual prostheses useful for fighting blindness and to improve patients quality of life. Visual prostheses aim at replacing lost visual functions by ar ...

Purpose : Based on oblique partially coherent illumination of transparent samples, we developed a simple custom Optical Phase Imaging (OPI) microscope providing a label-free, semi-quantitative phase contrast imaging. The aim of this study was to explore th ...

A novel homozygous R764H mutation in crumbs homolog 1 causes autosomal recessive retinitis pigmentosa

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The genetic architecture of complex human traits at the dawn of genomic medicine

Toward a mechanistic understanding of variable chromatin modules

Prioritization of cell types responsive to biological perturbations in single-cell data with Augur

Photovoltaic retinal prosthesis restores high-resolution responses to single-pixel stimulation in blind retinas

Homogeneous light stimulation of melanopsin and cones with a Maxwellian view device for the human eye

The makings of TERRA R-loops at chromosome ends

In vivo evaluation of gene editing and prosthetic strategies to restore vision in small and large animal models of retinal degeneration

Ophthalmic system and method for clinical device using transcleral illumination with multiple points source

Virtual reality simulation of epiretinal stimulation highlights the relevance of the visual angle in prosthetic vision

Genetic spectrum of retinal dystrophies in Tunisia

Development of a new visual prosthesis for preclinical studies on artificial vision

Optical phase contrast imaging of human retinal cells by changing the tissue refractive index