Kolexia
Pocachard-Bocquet Beatrice
Oto-rhino-laryngologie
Cabinet libéral
Villeneuve-d'Ascq, France
58 Activités
0 Followers

Scientifique
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{{person.topmesh1.name}} Rétinite pigmentaire Rétinite Dégénérescence maculaire Cécité Dystrophies rétiniennes Prédisposition génétique à une maladie Dystrophies des cônes et des batonnets Atrophie Amaurose congénitale de Leber

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Amplifon
1 collaboration(s)
Dernière en 2022
PASCALEO
1 collaboration(s)
Dernière en 2021
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Dernières activités

TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa.
JCI insight   08 novembre 2023
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Frontiers in cell and developmental biology   03 février 2023
Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with Variants.
International journal of molecular sciences   13 avril 2022
Whole locus sequencing identifies a prevalent founder deep intronic RPGRIP1 pathologic variant in the French Leber congenital amaurosis cohort
Abstracts from the 54th European Society of Human Genetics (ESHG) Conference   01 avril 2022
A ROD-CONE DYSTROPHY IS SYSTEMATICALLY ASSOCIATED TO THE RTN4IP1 RECESSIVE OPTIC ATROPHY.
Retina (Philadelphia, Pa.)   07 janvier 2022
-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor Isoforms.
International journal of molecular sciences   23 novembre 2021
Characterization of SSBP1-related optic atrophy and foveopathy.
Scientific reports   21 septembre 2021
Retinitis Punctata Albescens and RLBP1-Allied Phenotypes: Phenotype–Genotype Correlation and Natural History in the Aim of Gene Therapy
Ophthalmology science   01 septembre 2021
Maculopathies génétiques
HAS Publications   28 juillet 2021
Novel Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.
International journal of molecular sciences   15 juin 2021