Lista de obras - Francesca Capon - Dominio Público Uruguay

A Single Strand Conformation Polymorphism-Based Carrier Test for Spinal Muscular Atrophy

artículo científico publicado en 2001

A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13

scientific article published on 01 September 1999

A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.

artículo científico publicado en 2010

A possible role of NAIP gene deletions in sex-related spinal muscular atrophy phenotype variation

article

A tool for the molecular analysis of an early lethal disease: slide-PCR in spinal muscular atrophy patients

AP1S3 Mutations Cause Skin Autoinflammation by Disrupting Keratinocyte Autophagy and Up-Regulating IL-36 Production

artículo científico publicado en 2016

AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking

artículo científico publicado en 2014

Activating CARD14 Mutations Are Associated with Generalized Pustular Psoriasis but Rarely Account for Familial Recurrence in Psoriasis Vulgaris.

artículo científico publicado en 2015

Advances in the search for psoriasis susceptibility genes.

artículo científico publicado en 2000

Allele-specific cytokine responses at the HLA-C locus: implications for psoriasis

artículo científico publicado en 2011

An analysis of IL-36 signature genes and individuals with IL1RL2 knockout mutations validates IL-36 as a psoriasis therapeutic target. ⬇️

artículo científico publicado en 2017

An in-depth characterization of the major psoriasis susceptibility locus identifies candidate susceptibility alleles within an HLA-C enhancer element.

artículo científico publicado en 2013

An update on the genetics of psoriasis.

artículo científico publicado en 2004

Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to human chromosome 17p11

artículo científico publicado en 2002

Characterization of the loricrin (LOR) gene as a positional candidate for the PSORS4 psoriasis susceptibility locus.

artículo científico publicado en 2004

Clinical and genetic differences between pustular psoriasis subtypes

artículo científico publicado en 2018

Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus

artículo científico publicado en 2002

Conditional analysis identifies three novel major histocompatibility complex loci associated with psoriasis

artículo científico publicado en 2012

De novo deletions of the 5q13 region and prenatal diagnosis of spinal muscular atrophy

artículo científico publicado en 1995

Deletion analysis of SMN and NAIP genes in spinal muscular atrophy Italian families

article

Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus

artículo científico publicado en 1996

Differential contribution of CDKAL1 variants to psoriasis, Crohn's disease and type II diabetes.

artículo científico publicado en 2009

Discordant clinical outcome in type III spinal muscular atrophy sibships showing the same deletion pattern

artículo científico publicado en 1996

Enhanced meta-analysis and replication studies identify five new psoriasis susceptibility loci

artículo científico publicado en 2015

European consensus statement on phenotypes of pustular psoriasis

artículo científico publicado en 2017

Evidence for interaction between psoriasis-susceptibility loci on chromosomes 6p21 and 1q21.

artículo científico publicado en 1999

Evidence of an association between desmoglein 3 haplotypes and pemphigus vulgaris

article

Exclusion of CARD15/NOD2 as a candidate susceptibility gene to psoriasis in the Italian population.

artículo científico publicado en 2002

Expression study of survival motor neuron gene in human fetal tissues.

artículo científico publicado en 1997

Filaggrin null alleles are not associated with psoriasis

artículo científico publicado en 2007

Fine Mapping of the PSORS4 Psoriasis Susceptibility Region on Chromosome 1q21

artículo científico publicado en 2001

First-trimester prenatal diagnosis of spinal muscular atrophy using microsatellite markers

artículo científico publicado en 1994

Generalized pustular eruptions: time to adapt the disease taxonomy to the genetic architecture?

artículo científico publicado en 2013

Genetic analysis of PSORS2 markers in a UK dataset supports the association between RAPTOR SNPs and familial psoriasis.

artículo científico publicado en 2004

Genetic analysis of desmoglein 3 (DSG3) sequence variants in patients with pemphigus vulgaris

artículo científico publicado en 2009

Genetics of psoriasis.

artículo científico publicado en 2015

Genome-Wide Pathway Analysis Identifies Genetic Pathways Associated with Psoriasis

artículo científico publicado en 2015

Genome-wide high-density SNP-based linkage analysis of infantile hypertrophic pyloric stenosis identifies loci on chromosomes 11q14-q22 and Xq23.

artículo científico publicado en 2008

Genomic structure, promoter characterisation and mutational analysis of the S100A7 gene: exclusion of a candidate for familial psoriasis susceptibility

artículo científico publicado en 1999

IL36RN mutations define a severe autoinflammatory phenotype of generalized pustular psoriasis

artículo científico publicado en 2014

IL36RN mutations in generalized pustular psoriasis: just the tip of the iceberg?

artículo científico publicado en 2013

Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.

artículo científico publicado en 2012

Identification of Rare, Disease-Associated Variants in the Promoter Region of the RNF114 Psoriasis Susceptibility Gene

article

Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene

scientific journal article

Identification of multiple transcribed sequences from the spinal muscular atrophy region of human chromosome 5.

artículo científico publicado en 1995

Juvenile generalized pustular psoriasis is a chronic recalcitrant disease: an analysis of 27 patients seen in a tertiary hospital in Johor, Malaysia.

artículo científico publicado en 2017

Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16q24.

artículo científico publicado en 2008

Loss of IL36RN function does not confer susceptibility to psoriasis vulgaris.

artículo científico publicado en 2013

Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C

artículo científico publicado en 2002

Mapping a dominant form of multinodular goiter to chromosome Xp22

artículo científico publicado en 2000

Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26.

artículo científico publicado en 2001

Meta-analysis confirms the LCE3C_LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6.

artículo científico publicado en 2010

Mutational analysis of Peroxiredoxin IV: exclusion of a positional candidate for multinodular goitre

artículo científico publicado en 2002

Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis.

artículo científico publicado en 2011

Negligible impact of rare autoimmune-locus coding-region variants on missing heritability

artículo científico publicado en 2013

Neonatal spinal muscular atrophy with diaphragmatic paralysis is unlinked to 5q11.2-q13

artículo científico publicado en 1995

PCR protocol for DNA recovery from Spurr's-embedded muscle biopsies

artículo científico publicado en 1993

Psoriasis and other complex trait dermatoses: from Loci to functional pathways

artículo científico publicado en 2011

Psoriasis is associated with pleiotropic susceptibility loci identified in type II diabetes and Crohn disease.

artículo científico publicado en 2007

Rare pathogenic variants in IL36RN underlie a spectrum of psoriasis-associated pustular phenotypes.

artículo científico publicado en 2013

Rare variations in IL36RN in severe adverse drug reactions manifesting as acute generalized exanthematous pustulosis.

artículo científico publicado en 2013

Searching for Psoriasis Susceptibility Genes in Italy: Genome Scan and Evidence for a New Locus on Chromosome 1

article

Searching for the major histocompatibility complex psoriasis susceptibility gene.

artículo científico publicado en 2002

Sequence variants in the genes for the interleukin-23 receptor (IL23R) and its ligand (IL12B) confer protection against psoriasis.

artículo científico publicado en 2007

Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.

artículo científico publicado en 1995

The IL23R R381Q gene variant protects against immune-mediated diseases by impairing IL-23-induced Th17 effector response in humans

artículo científico publicado en 2011

The heterogeneous mutational landscape of pustular psoriasis

artículo científico publicado en 2018

The quest for psoriasis susceptibility genes in the postgenome-wide association studies era: charting the road ahead.

artículo científico publicado en 2012

Update on psoriasis immunopathogenesis and targeted immunotherapy.

artículo científico publicado en 2015

Lista de obras de Francesca Capon

A Single Strand Conformation Polymorphism-Based Carrier Test for Spinal Muscular Atrophy

A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13

A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.

A possible role of NAIP gene deletions in sex-related spinal muscular atrophy phenotype variation

A tool for the molecular analysis of an early lethal disease: slide-PCR in spinal muscular atrophy patients

AP1S3 Mutations Cause Skin Autoinflammation by Disrupting Keratinocyte Autophagy and Up-Regulating IL-36 Production

AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking

Activating CARD14 Mutations Are Associated with Generalized Pustular Psoriasis but Rarely Account for Familial Recurrence in Psoriasis Vulgaris.

Advances in the search for psoriasis susceptibility genes.

Allele-specific cytokine responses at the HLA-C locus: implications for psoriasis

An analysis of IL-36 signature genes and individuals with IL1RL2 knockout mutations validates IL-36 as a psoriasis therapeutic target. ⬇️

An in-depth characterization of the major psoriasis susceptibility locus identifies candidate susceptibility alleles within an HLA-C enhancer element.

An update on the genetics of psoriasis.

Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to human chromosome 17p11

Characterization of the loricrin (LOR) gene as a positional candidate for the PSORS4 psoriasis susceptibility locus.

Clinical and genetic differences between pustular psoriasis subtypes

Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus

Conditional analysis identifies three novel major histocompatibility complex loci associated with psoriasis

De novo deletions of the 5q13 region and prenatal diagnosis of spinal muscular atrophy

Deletion analysis of SMN and NAIP genes in spinal muscular atrophy Italian families

Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus

Differential contribution of CDKAL1 variants to psoriasis, Crohn's disease and type II diabetes.

Discordant clinical outcome in type III spinal muscular atrophy sibships showing the same deletion pattern

Enhanced meta-analysis and replication studies identify five new psoriasis susceptibility loci

European consensus statement on phenotypes of pustular psoriasis

Evidence for interaction between psoriasis-susceptibility loci on chromosomes 6p21 and 1q21.

Evidence of an association between desmoglein 3 haplotypes and pemphigus vulgaris

Exclusion of CARD15/NOD2 as a candidate susceptibility gene to psoriasis in the Italian population.

Expression study of survival motor neuron gene in human fetal tissues.

Filaggrin null alleles are not associated with psoriasis

Fine Mapping of the PSORS4 Psoriasis Susceptibility Region on Chromosome 1q21

First-trimester prenatal diagnosis of spinal muscular atrophy using microsatellite markers

Generalized pustular eruptions: time to adapt the disease taxonomy to the genetic architecture?

Genetic analysis of PSORS2 markers in a UK dataset supports the association between RAPTOR SNPs and familial psoriasis.

Genetic analysis of desmoglein 3 (DSG3) sequence variants in patients with pemphigus vulgaris

Genetics of psoriasis.

Genome-Wide Pathway Analysis Identifies Genetic Pathways Associated with Psoriasis

Genome-wide high-density SNP-based linkage analysis of infantile hypertrophic pyloric stenosis identifies loci on chromosomes 11q14-q22 and Xq23.

Genomic structure, promoter characterisation and mutational analysis of the S100A7 gene: exclusion of a candidate for familial psoriasis susceptibility

IL36RN mutations define a severe autoinflammatory phenotype of generalized pustular psoriasis

IL36RN mutations in generalized pustular psoriasis: just the tip of the iceberg?

Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.

Identification of Rare, Disease-Associated Variants in the Promoter Region of the RNF114 Psoriasis Susceptibility Gene

Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene

Identification of multiple transcribed sequences from the spinal muscular atrophy region of human chromosome 5.

Juvenile generalized pustular psoriasis is a chronic recalcitrant disease: an analysis of 27 patients seen in a tertiary hospital in Johor, Malaysia.

Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16q24.

Loss of IL36RN function does not confer susceptibility to psoriasis vulgaris.

Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C

Mapping a dominant form of multinodular goiter to chromosome Xp22

Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26.

Meta-analysis confirms the LCE3C_LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6.

Mutational analysis of Peroxiredoxin IV: exclusion of a positional candidate for multinodular goitre

Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis.

Negligible impact of rare autoimmune-locus coding-region variants on missing heritability

Neonatal spinal muscular atrophy with diaphragmatic paralysis is unlinked to 5q11.2-q13

PCR protocol for DNA recovery from Spurr's-embedded muscle biopsies

Psoriasis and other complex trait dermatoses: from Loci to functional pathways

Psoriasis is associated with pleiotropic susceptibility loci identified in type II diabetes and Crohn disease.

Rare pathogenic variants in IL36RN underlie a spectrum of psoriasis-associated pustular phenotypes.

Rare variations in IL36RN in severe adverse drug reactions manifesting as acute generalized exanthematous pustulosis.

Searching for Psoriasis Susceptibility Genes in Italy: Genome Scan and Evidence for a New Locus on Chromosome 1

Searching for the major histocompatibility complex psoriasis susceptibility gene.

Sequence variants in the genes for the interleukin-23 receptor (IL23R) and its ligand (IL12B) confer protection against psoriasis.

Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.

The IL23R R381Q gene variant protects against immune-mediated diseases by impairing IL-23-induced Th17 effector response in humans

The heterogeneous mutational landscape of pustular psoriasis

The quest for psoriasis susceptibility genes in the postgenome-wide association studies era: charting the road ahead.

Update on psoriasis immunopathogenesis and targeted immunotherapy.