Lista de obras - Jean-Louis Dufier - Dominio Público Uruguay

A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q

artículo científico publicado en 2003

A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q21-q22.

artículo científico publicado en 2006

A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p

article

A novel mutation in the GUCY2D gene responsible for an early onset severe RP different from the usual GUCY2D-LCA phenotype

artículo científico publicado en 2005

Acro-osteolysis, keloid like-lesions, distinctive facial features, and overgrowth: Two newly recognized patients with premature aging syndrome, penttinen type

artículo científico publicado en 2013

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

artículo científico publicado en 2012

Benefit of Bi-Ocular Visual Stimulation for Postural Control in Children with Strabismus ⬇️

artículo científico publicado el 2 de abril de 2013

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

Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline

artículo científico publicado en 2005

Disease-associated variants of the rod-derived cone viability factor (RdCVF) in Leber congenital amaurosis. Rod-derived cone viability variants in LCA.

artículo científico publicado en 2006

Early therapeutic trials for retinitis pigmentosa

artículo científico publicado en 2003

Eight previously unidentified mutations found in the OA1 ocular albinism gene

artículo científico publicado en 2006

Evolution of ocular manifestations in nephropathic cystinosis: a long-term study of a population treated with cysteamine.

artículo científico publicado en 2003

Familial congenital oculomotor apraxia: clinical and electro-oculographic features

artículo científico publicado en 2008

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features

artículo científico publicado en 2014

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

artículo científico publicado en 2006

Identification of novel genes and altered signaling pathways in the retinal pigment epithelium during the Royal College of Surgeons rat retinal degeneration.

artículo científico publicado en 2003

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

artículo científico publicado en 2006

Leber congenital amaurosis--genotyping required for possible inclusion in a clinical trial

artículo científico publicado en 2003

Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis

artículo científico publicado en 2004

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

artículo científico publicado en 2007

NDP gene mutations in 14 French families with Norrie disease

artículo científico publicado en 2003

Non-penetrating deep sclerectomy for glaucoma associated with Sturge-Weber syndrome

artículo científico publicado en 2006

Nonpenetrating external trabeculectomy for congenital glaucoma: a retrospective study

artículo científico publicado en 2007

Ophthalmologic findings in suspected child abuse victims with subdural hematomas

artículo científico publicado en 2003

Organic causes of bad visual development in the child

artículo científico publicado en 2007

Persisting reversed clock syndrome

artículo científico publicado en 2005

Population history and infrequent mutations: how old is a rare mutation? GUCY2D as a worked example

artículo científico publicado en 2007

Postural Control in Nonamblyopic Children with Early-Onset Strabismus ⬇️

artículo científico publicado el 17 de enero de 2013

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

artículo científico publicado en 2016

Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis

artículo científico publicado en 2004

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

artículo científico publicado en 2007

Subtypes of developmental coordination disorder: research on their nature and etiology.

artículo científico publicado en 2011

Superficial punctate keratitis and conjunctival erosions associated with congenital tufting enteropathy

artículo científico publicado en 2010

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

artículo científico publicado en 2009

Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network

artículo científico publicado en 2016

The ABCA4 gene in autosomal recessive cone-rod dystrophies

artículo científico publicado en 2002

The sensitive period for strabismic amblyopia in humans

artículo científico publicado en 1993

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

artículo científico publicado en 2007

Truncation of PITX2 differentially affects its activity on physiological targets.

artículo científico publicado en 2010

USH1A: chronicle of a slow death

artículo científico publicado en 2006

Vertical and horizontal smooth pursuit eye movements in children: a neuro-developmental study

artículo científico publicado en 2008

[Diagnosis of visual impairment]

artículo científico publicado en 2007

Lista de obras de Jean-Louis Dufier

A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q

A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q21-q22.

A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p

A novel mutation in the GUCY2D gene responsible for an early onset severe RP different from the usual GUCY2D-LCA phenotype

Acro-osteolysis, keloid like-lesions, distinctive facial features, and overgrowth: Two newly recognized patients with premature aging syndrome, penttinen type

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

Benefit of Bi-Ocular Visual Stimulation for Postural Control in Children with Strabismus ⬇️

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

Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline

Disease-associated variants of the rod-derived cone viability factor (RdCVF) in Leber congenital amaurosis. Rod-derived cone viability variants in LCA.

Early therapeutic trials for retinitis pigmentosa

Eight previously unidentified mutations found in the OA1 ocular albinism gene

Evolution of ocular manifestations in nephropathic cystinosis: a long-term study of a population treated with cysteamine.

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

High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features

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

Identification of novel genes and altered signaling pathways in the retinal pigment epithelium during the Royal College of Surgeons rat retinal degeneration.

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

Leber congenital amaurosis--genotyping required for possible inclusion in a clinical trial

Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis

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

NDP gene mutations in 14 French families with Norrie disease

Non-penetrating deep sclerectomy for glaucoma associated with Sturge-Weber syndrome

Nonpenetrating external trabeculectomy for congenital glaucoma: a retrospective study

Ophthalmologic findings in suspected child abuse victims with subdural hematomas

Organic causes of bad visual development in the child

Persisting reversed clock syndrome

Population history and infrequent mutations: how old is a rare mutation? GUCY2D as a worked example

Postural Control in Nonamblyopic Children with Early-Onset Strabismus ⬇️

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

Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis

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

Subtypes of developmental coordination disorder: research on their nature and etiology.

Superficial punctate keratitis and conjunctival erosions associated with congenital tufting enteropathy

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

Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network

The ABCA4 gene in autosomal recessive cone-rod dystrophies

The sensitive period for strabismic amblyopia in humans

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

Truncation of PITX2 differentially affects its activity on physiological targets.

USH1A: chronicle of a slow death

Vertical and horizontal smooth pursuit eye movements in children: a neuro-developmental study

[Diagnosis of visual impairment]