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Anne Sophie Denomme-Pichon

Explore the profile of Anne Sophie Denomme-Pichon including associated specialties, affiliations and a list of published articles. Areas
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Citations 19
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Recent Articles
1.
Zagorec N, Calamel A, Delaporte M, Olinger E, Orr S, Sayer J, et al.
Am J Kidney Dis . 2024 Dec; PMID: 39732359
Rationale & Objective: Monoallelic predicted loss-of-function (pLoF) variants in IFT140 have recently been associated with an autosomal dominant polycystic kidney disease (ADPKD)-like phenotype. This study enhanced the characterization of this...
2.
Scala M, Nishikawa M, Ito H, Tabata H, Khan T, Accogli A, et al.
Brain . 2022 Jul; 145(9):3308-3327. PMID: 35851598
Variants in RAC3, encoding a small GTPase RAC3 which is critical for the regulation of actin cytoskeleton and intracellular signal transduction, are associated with a rare neurodevelopmental disorder with structural...