Olivier Roche

Paris, France

Last Updated: 09/26/2026

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Found 14 publications

Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma.

Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma.

Journal: European journal of human genetics : EJHG

Published: November 07, 2019

Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis.

Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis.

Journal: Journal of human genetics

Published: July 24, 2019

Relevance of Identifying JAG1 Mutations in Patients With Isolated Posterior Embryotoxon.

Relevance of Identifying JAG1 Mutations in Patients With Isolated Posterior Embryotoxon.

Journal: Journal of glaucoma

Published: November 08, 2016

Recurrent lacrimal gland choristoma of the ciliary body in an infant mimicking a medulloepithelioma.

Recurrent lacrimal gland choristoma of the ciliary body in an infant mimicking a medulloepithelioma.

Journal: European journal of ophthalmology

Published: April 07, 2016

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.

Journal: American journal of human genetics

Published: November 16, 2015

Submicroscopic deletions at 13q32.1 cause congenital microcoria.

Submicroscopic deletions at 13q32.1 cause congenital microcoria.

Journal: American journal of human genetics

Published: October 08, 2014

Visual Impairment in Pseudoxanthoma Elasticum: A Survey of 40 Patients.

Visual Impairment in Pseudoxanthoma Elasticum: A Survey of 40 Patients.

Journal: Ophthalmic genetics

Published: April 23, 2014

Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form.

Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form.

Journal: Human genetics

Published: June 02, 2013

From congenital glaucoma to chronic open angle glaucoma in adulthood: a clinical and genetic continuum

From congenital glaucoma to chronic open angle glaucoma in adulthood: a clinical and genetic continuum

Journal: Bulletin de l'Academie nationale de medecine

Published: January 01, 2013

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.

Journal: Nature genetics

Published: April 09, 2012

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.

Journal: American journal of human genetics

Published: January 04, 2012

Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?

Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?

Journal: European journal of human genetics : EJHG

Published: December 01, 2011

Showing 1-12 of 14

Last Updated: 09/26/2026