Kolexia
Moriniere Vincent
Radio-diagnostic
Hôpital Necker Enfants Malades
Paris, France
39 Activités
0 Followers

Scientifique
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{{person.topmesh1.name}} Maladies du rein Syndrome néphrotique Maladies kystiques rénales Polykystose rénale autosomique dominante Malformations urogénitales Polykystoses rénales Prédisposition génétique à une maladie Défaillance rénale chronique Néphrite interstitielle

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Dernières activités

Steroid-Resistant Nephrotic Syndrome due to NPHS2 Variants Is Not Associated With Posttransplant Recurrence
Kidney international reports   10 janvier 2024
P168: MUC1 gene coding-VNTR alignment-free genotyping approach augmented ADTKD diagnosis in a cohort of 3735 patients with hereditary kidney diseases
2024 ACMG Annual Clinical Genetics Meeting   01 janvier 2024
P135: X-linked Alport syndrome: From transcriptomic diagnosis to preclinical assessment of splice-switching oligonucleotide therapy using patient-derived cells and kidney organoids*
2024 ACMG Annual Clinical Genetics Meeting   01 janvier 2024
VNtyper enables accurate alignment-free genotyping of coding VNTR using short-read sequencing data in autosomal dominant tubulointerstitial kidney disease.
iScience   17 juin 2023
A wave of deep intronic mutations in X-linked Alport syndrome.
Kidney international   23 mai 2023
The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.
Kidney international   23 mai 2023
Bi-allelic pathogenic variants in ITGA8 cause slowly progressive renal disease of unknown etiology.
Clinical genetics   17 septembre 2022
Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.
The Journal of clinical investigation   02 juin 2022
Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.
Human mutation   10 janvier 2022
Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes.
Pediatric nephrology (Berlin, Germany)   13 février 2021