Lista de obras -

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 novel locus for autosomal dominant “uncomplicated” hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3

A novel locus for autosomal recessive spastic ataxia on chromosome 17p

artículo científico publicado en 2007

A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis

artículo científico publicado en 2002

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

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia

artículo científico publicado en 2013

AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation

artículo científico publicado en 2012

Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy.

artículo científico publicado en 2016

Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds

artículo científico publicado en 2018

De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene

scientific article published on 01 July 2018

Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study

artículo científico publicado en 2018

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

Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin

artículo científico publicado en 2002

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

scientific journal article

Identification of an Endoglin Variant Associated With HCV-Related Liver Fibrosis Progression by Next-Generation Sequencing

artículo científico publicado en 2019

Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome

artículo científico publicado en 2008

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

artículo científico publicado en 2011

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

Leber congenital amaurosis: retinol dehydrogenases are the culprit

artículo científico publicado en 2004

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

artículo científico publicado en 2006

Low prevalence of gamma-secretase complex gene mutations in a large cohort of predominantly Caucasian patients with Hidradenitis Suppurativa

artículo científico publicado en 2020

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

artículo científico publicado en 2012

Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy

artículo científico publicado en 2012

Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas.

artículo científico publicado en 2017

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

artículo científico publicado en 2007

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

artículo científico publicado en 2012

NDP gene mutations in 14 French families with Norrie disease

artículo científico publicado en 2003

NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.

artículo científico publicado en 2018

Neutropenia in Patients with Common Variable Immunodeficiency: a Rare Event Associated with Severe Outcome

artículo científico publicado en 2017

Nuclear outsourcing of RNA interference components to human mitochondria

artículo científico publicado en 2011

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

artículo científico publicado en 2007

Prenatal human ocular degeneration occurs in Leber's Congenital Amaurosis (LCA1 and 2).

artículo científico publicado en 2003

Prenatal human ocular degeneration occurs in Leber's congenital amaurosis (LCA2).

artículo científico publicado en 2002

Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families

artículo científico publicado en 2007

Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis

artículo científico publicado en 2004

Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description

article

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

artículo científico publicado en 2007

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

artículo científico publicado en 2010

TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane

artículo científico publicado en 2013

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

artículo científico publicado en 2009

The ABCA4 gene in autosomal recessive cone-rod dystrophies

artículo científico publicado en 2002

[Mutations in NMNAT1 cause Leber congenital amaurosis with severe macular and optic atrophy].

artículo científico publicado en 2013

[Twenty years of on-site clinical genetics consultations for people with ASD]

scientific article published on 01 November 2019

Lista de obras de

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 novel locus for autosomal dominant “uncomplicated” hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3

A novel locus for autosomal recessive spastic ataxia on chromosome 17p

A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis

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

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia

AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation

Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy.

Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds

De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene

Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study

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

Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

Identification of an Endoglin Variant Associated With HCV-Related Liver Fibrosis Progression by Next-Generation Sequencing

Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome

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

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

Leber congenital amaurosis: retinol dehydrogenases are the culprit

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

Low prevalence of gamma-secretase complex gene mutations in a large cohort of predominantly Caucasian patients with Hidradenitis Suppurativa

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy

Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas.

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

NDP gene mutations in 14 French families with Norrie disease

NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.

Neutropenia in Patients with Common Variable Immunodeficiency: a Rare Event Associated with Severe Outcome

Nuclear outsourcing of RNA interference components to human mitochondria

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

Prenatal human ocular degeneration occurs in Leber's Congenital Amaurosis (LCA1 and 2).

Prenatal human ocular degeneration occurs in Leber's congenital amaurosis (LCA2).

Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families

Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis

Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description

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

TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane

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

The ABCA4 gene in autosomal recessive cone-rod dystrophies

[Mutations in NMNAT1 cause Leber congenital amaurosis with severe macular and optic atrophy].

[Twenty years of on-site clinical genetics consultations for people with ASD]