Publications by authors named "Patrick 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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Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia.
Yesim Kesim, Fabiola Ceroni, Alejandra Damián, Fiona Blanco-Kelly, Carmen Ayuso, Patrick Calvas

Eur J Hum Genet· October 2023

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Correction: Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia.
Yesim Kesim, Fabiola Ceroni, Alejandra Damián, Fiona Blanco-Kelly, Carmen Ayuso, Patrick Calvas

Eur J Hum Genet· October 2023

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[Not Available].
Patrick Calvas

J Int Bioethique Ethique Sci· September 2023

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[Not Available].
Myriam Guedj, Marion Rosier, Patrick Calvas, Sophie Julia, Christelle Garnier

J Int Bioethique Ethique Sci· September 2023

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Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.
Véronique Caron, Nicolas Chassaing, Nicola Ragge, Felix Boschann, Angelina My-Hoa Ngu, Patrick Calvas

Genet Med· August 2023

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Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye.
Bertrand Chesneau, Véronique Ivashchenko, Christophe Habib, Véronique Gaston, Fréderic Escudié, Patrick Calvas

Eur J Hum Genet· May 2023

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Correction to: Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye.
Bertrand Chesneau, Véronique Ivashchenko, Christophe Habib, Véronique Gaston, Fréderic Escudié, Patrick Calvas

Eur J Hum Genet· May 2023

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Bi-allelic variants in disrupt the development of multiple organs in humans.
Samir Bouasker, Nisha Patel, Rebecca Greenlees, Diana Wellesley, Lucas Fares Taie, Patrick Calvas

J Med Genet· March 2023

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Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in in Congenital Aniridia.
Alejandra Tamayo, Gonzalo Núñez-Moreno, Carolina Ruiz, Julie Plaisancie, Alejandra Damian, Patrick Calvas

Int J Mol Sci· January 2023

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Individuals with heterozygous variants in the Wnt-signalling pathway gene delineate a phenotype characterized by isolated coloboma and variable expressivity.
Richard Holt, David Goudie, Alejandra Damián Verde, Alice Gardham, Francis Ramond, Patrick Calvas

Ophthalmic Genet· December 2022

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GM2 gangliosidosis AB variant: first case of late onset and review of the literature.
Benjamin Ganne, Benjamin Dauriat, Laurence Richard, Foudil Lamari, Karima Ghorab, Patrick Calvas

Neurol Sci· November 2022

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EPHA2 biallelic disruption causes syndromic complex microphthalmia with iris hypoplasia.
Cécile Courdier, Anna Gemahling, Damien Guindolet, Amandine Barjol, Claire Scaramouche, Patrick Calvas

Eur J Med Genet· October 2022

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Activation of cryptic donor splice sites by non-coding and coding variants contributes to congenital aniridia.
Maria Tarilonte, Patricia Ramos, Jennifer Moya, Guilermo Fernandez-Sanz, Fiona Blanco-Kelly, Patrick Calvas

J Med Genet· May 2022

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First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.
Bertrand Chesneau, Marion Aubert-Mucca, Félix Fremont, Jacmine Pechmeja, Vincent Soler, Patrick Calvas

Clin Genet· May 2022

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Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trial.
Giulia Coarelli, Anna Heinzmann, Claire Ewenczyk, Clara Fischer, Marie Chupin, Fabienne Calvas, Patrick Calvas

Lancet Neurol· March 2022

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High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.
Mehdi Benkirane, Cecilia Marelli, Claire Guissart, Agathe Roubertie, Elizabeth Ollagnon, Patrick Calvas

Genet Med· November 2021

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Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma.
Marion Aubert-Mucca, Julie Pernin-Grandjean, Sébastien Marchasson, Veronique Gaston, Christophe Habib, Patrick Calvas

Eur J Hum Genet· January 2021

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Lessons learned from 40 novel PIGA patients and a review of the literature.
Allan Bayat, Alexej Knaus, Manuela Pendziwiat, Alexandra Afenjar, Tahsin Stefan Barakat, Patrick Calvas

Epilepsia· June 2020

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Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule.
Laure Cayrefourcq, Marie-Claire Vincent, Sandra Pierredon, Céline Moutou, Marion Imbert-Bouteille, Patrick Calvas

Sci Rep· June 2020

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Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis.
Celia Zazo-Seco, Julie Plaisancié, Pierre Bitoun, Marta Corton, Ana Arteche, Patrick Calvas

J Hum Genet· May 2020

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