Patrick Calvas

Toulouse, France

Last Updated: 09/26/2026

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Found 81 publications

Insights Into the FOXE3 Transcriptional Network and Disease Mechanisms From the Investigation of a Regulatory Variant Driving Complex Microphthalmia.

Insights Into the FOXE3 Transcriptional Network and Disease Mechanisms From the Investigation of a Regulatory Variant Driving Complex Microphthalmia.

Journal: Investigative ophthalmology & visual science

Published: August 20, 2025

ITPR1: The missing gene in miosis-ataxia syndrome?

ITPR1: The missing gene in miosis-ataxia syndrome?

Journal: American journal of medical genetics. Part A

Published: January 24, 2024

Structural Variant Disrupting the Expression of the Remote FOXC1 Gene in a Patient with Syndromic Complex Microphthalmia.

Structural Variant Disrupting the Expression of the Remote FOXC1 Gene in a Patient with Syndromic Complex Microphthalmia.

Journal: International journal of molecular sciences

Published: January 17, 2024

Congenital microcoria deletion in mouse links Sox21 dysregulation to disease and suggests a role for TGFB2 in glaucoma and myopia.

Congenital microcoria deletion in mouse links Sox21 dysregulation to disease and suggests a role for TGFB2 in glaucoma and myopia.

Journal: American journal of human genetics

Published: January 12, 2024

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Journal: Journal international de bioethique et d'ethique des sciences

Published: September 08, 2023

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Journal: Journal international de bioethique et d'ethique des sciences

Published: September 08, 2023

Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development.

Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development.

Journal: Nature communications

Published: July 31, 2023

Correction: Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia.

Correction: Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia.

Journal: European journal of human genetics : EJHG

Published: April 27, 2023

Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity.

Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity.

Journal: Ophthalmic genetics

Published: January 25, 2023

Correction to: Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye.

Correction to: Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye.

Journal: European journal of human genetics : EJHG

Published: December 02, 2022

Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia.

Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia.

Journal: International journal of molecular sciences

Published: December 01, 2022

Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia.

Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia.

Journal: European journal of human genetics : EJHG

Published: August 26, 2022

Showing 1-12 of 81

Last Updated: 09/26/2026