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

Disease-causing mutations in BEST1 gene are associated with altered sorting of bestrophin-1 protein

artículo científico publicado en 2013

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

artículo científico publicado en 2010

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

scientific journal article

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

artículo científico publicado en 2014

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

artículo científico publicado en 2011

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

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

Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophy

artículo científico publicado en 2015

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

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

Disease-causing mutations in BEST1 gene are associated with altered sorting of bestrophin-1 protein

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

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

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

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

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

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

Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophy

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.

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