Lista de obras -

A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family

artículo científico publicado en 2011

An unusual retinal phenotype associated with a novel mutation in RHO.

artículo científico publicado en 2010

CRB1 mutations in inherited retinal dystrophies

artículo científico publicado en 2011

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

artículo científico publicado en 2012

EYS is a major gene for rod-cone dystrophies in France.

artículo científico publicado en 2010

Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy

artículo científico publicado en 2016

Lrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB)

scientific journal article

MERTK mutations update in inherited retinal diseases.

artículo científico publicado en 2018

Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome

artículo científico publicado en 2014

Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation

artículo científico publicado en 2015

Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort.

artículo científico publicado en 2011

Phenotypic Characteristics of a French Cohort of Patients with X-Linked Retinoschisis

article

Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports

artículo científico publicado en 2010

RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation

artículo científico

Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients

artículo científico publicado en 2010

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness

artículo científico publicado en 2009

The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.

artículo científico publicado en 2013

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders

scientific article published on 28 March 2019

Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy

artículo científico publicado en 2018

Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

artículo científico publicado en 2012

Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy

artículo científico publicado en 2014

Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness

artículo científico publicado en 2012

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness

artículo científico publicado en 2012

Lista de obras de

A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family

An unusual retinal phenotype associated with a novel mutation in RHO.

CRB1 mutations in inherited retinal dystrophies

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

EYS is a major gene for rod-cone dystrophies in France.

Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy

Lrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB)

MERTK mutations update in inherited retinal diseases.

Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome

Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation

Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort.

Phenotypic Characteristics of a French Cohort of Patients with X-Linked Retinoschisis

Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports

RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation

Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness

The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders

Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy

Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy

Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness