Publications by authors named "P Calvas"

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Insights Into the FOXE3 Transcriptional Network and Disease Mechanisms From the Investigation of a Regulatory Variant Driving Complex Microphthalmia.
Julie Plaisancié, Clémentine Angée, Elisa Erjavec, Isabelle Raymond-Letron, Jean-Yves Douet, Patrick Calvas

Invest Ophthalmol Vis Sci· August 2025

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Congenital microcoria deletion in mouse links Sox21 dysregulation to disease and suggests a role for TGFB2 in glaucoma and myopia.
Elisa Erjavec, Clémentine Angée, Djihad Hadjadj, Bruno Passet, Pierre David, Patrick Calvas

Am J Hum Genet· October 2024

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Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development.
Fabiola Ceroni, Munevver B Cicekdal, Richard Holt, Elena Sorokina, Nicolas Chassaing, Patrick Calvas

Nat Commun· October 2024

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ITPR1: The missing gene in miosis-ataxia syndrome?
Bertrand Chesneau, Patrick Calvas, Myriam Cassagne, Fanny Varenne, Jean-Michel Rozet

Am J Med Genet A· September 2024

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Structural Variant Disrupting the Expression of the Remote Gene in a Patient with Syndromic Complex Microphthalmia.
Julie Plaisancié, Bertrand Chesneau, Lucas Fares-Taie, Jean-Michel Rozet, Jacmine Pechmeja, Patrick Calvas

Int J Mol Sci· February 2024

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