List of works - Olivier Roche

Asymptomatic atrophy of the temporal median raphe of the retina associated with cerebral vasculopathy in homozygous sickle cell disease.

scientific article published in August 2012

Carotid artery dissection revealed by an oculosympathetic spasm

scientific article published on 02 May 2008

Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling

Dynamics of dense granular flows of small-and-large-grain mixtures in an ambient fluid.

scientific article published on 20 August 2012

Eight previously unidentified mutations found in the OA1 ocular albinism gene

scientific article published in 2006

Erosion and mobility in granular collapse over sloping beds

scholarly article

Evolution of Irruputuncu volcano, Central Andes, northern Chile

scientific article published in November 2015

Experimental Measurement of the Solid Particle Concentration in Geophysical Turbulent Gas-Particle Mixtures

Experimental study of dense pyroclastic density currents using sustained, gas-fluidized granular flows

Familial congenital oculomotor apraxia: clinical and electro-oculographic features

scientific article published on 13 August 2008

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

scientific article

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

scientific article published on 19 October 2013

Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome

scientific article

Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report

scientific article

Impact of Fluidized Granular Flows into Water: Implications for Tsunamis Generated by Pyroclastic Flows

scientific article published in May 2020

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

scientific article published on 30 November 2011

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

scientific article

MeMoVolc consensual document: a review of cross-disciplinary approaches to characterizing small explosive magmatic eruptions

article

Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.

scientific article published in December 2007

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

scientific article

Nonpenetrating external trabeculectomy for congenital glaucoma: a retrospective study

scientific article published in November 2007

On the run-out distance of geophysical gravitational flows: Insight from fluidized granular collapse experiments

scholarly article

Ophthalmologic findings in suspected child abuse victims with subdural hematomas

scientific article published in September 2003

Organic causes of bad visual development in the child

scientific article published in November 2007

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

scientific article published on 20 April 2016

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

scientific article published on 10 May 2016

Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype

scientific article

Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype

scientific article published in March 2010

Superficial punctate keratitis and conjunctival erosions associated with congenital tufting enteropathy

scientific article published on 5 May 2010

TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy

scientific article

Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities

scientific article published on 2 April 2007

List of works by Olivier Roche

Asymptomatic atrophy of the temporal median raphe of the retina associated with cerebral vasculopathy in homozygous sickle cell disease.

Carotid artery dissection revealed by an oculosympathetic spasm

Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling

Dynamics of dense granular flows of small-and-large-grain mixtures in an ambient fluid.

Eight previously unidentified mutations found in the OA1 ocular albinism gene

Erosion and mobility in granular collapse over sloping beds

Evolution of Irruputuncu volcano, Central Andes, northern Chile

Experimental Measurement of the Solid Particle Concentration in Geophysical Turbulent Gas-Particle Mixtures

Experimental study of dense pyroclastic density currents using sustained, gas-fluidized granular flows

Familial congenital oculomotor apraxia: clinical and electro-oculographic features

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

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

Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome

Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report

Impact of Fluidized Granular Flows into Water: Implications for Tsunamis Generated by Pyroclastic Flows

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

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

MeMoVolc consensual document: a review of cross-disciplinary approaches to characterizing small explosive magmatic eruptions

Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.

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

Nonpenetrating external trabeculectomy for congenital glaucoma: a retrospective study

On the run-out distance of geophysical gravitational flows: Insight from fluidized granular collapse experiments

Ophthalmologic findings in suspected child abuse victims with subdural hematomas

Organic causes of bad visual development in the child

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

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

Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype

Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype

Superficial punctate keratitis and conjunctival erosions associated with congenital tufting enteropathy

TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy

Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities