Kolexia
Puech Bernard Ophtalmologie
Puech Bernard
Ophtalmologie
CHU Lille
Lille, France
30 Activités
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{{person.topmesh1.name}} Dégénérescence maculaire Prédisposition génétique à une maladie Dystrophie maculaire vitelliforme Dystrophies héréditaires de la cornée Atrophie Cécité Dystrophies rétiniennes Maladie de Stargardt Rétinopathies

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Defoort-Dhellemmes Sabine
Defoort-Dhellemmes Sabine
Hôpital Roger Salengro, Lille, France
Meunier Isabelle
Meunier Isabelle
Hôpital Gui de Chauliac, Montpellier, France
Dhaenens Claire-Marie
Dhaenens Claire-Marie
Centre de Biologie - Pathologie, Lille, France
Drumare Bouvet Isabelle
Drumare Bouvet Isabelle
Hôpital Roger Salengro, Lille, France

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Thea
1 collaboration(s)
Dernière en 2017
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Dernières activités

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Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.
Genetics in medicine : official journal of the American College of Medical Genetics   20 avril 2020
A recurrent intergenic variant upstream of PRDM13 causes autosomal dominant progressive bifocal chorioretinal atrophy in two unrelated pedigrees
Abstracts from the 51st European Society of Human Genetics (ESHG) Conference, in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG)   01 juillet 2019
Congenital Macular Dystrophy is caused by non-coding duplications downstream of the IRXA cluster
Abstracts from the 51st European Society of Human Genetics (ESHG) Conference, in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG)   01 juillet 2019
Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease.
Human mutation   18 juin 2019
Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy.
Human mutation   14 février 2019
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.
Genetics in medicine : official journal of the American College of Medical Genetics   15 janvier 2019
Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients.
Scientific reports   01 mai 2018
Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus.
Scientific reports   08 août 2017
Genome-wide linkage and haplotype sharing analysis implicates the MCDR3 locus as a candidate region for a developmental macular disorder in association with digit abnormalities.
Ophthalmic genetics   02 mars 2017
A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene.
Scientific reports   07 septembre 2016